39 results on '"Negron CI"'
Search Results
2. Telomere Biology Disorders: Report on Clinical and Angiographic Findings.
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da Cruz NFS, Sengillo JD, Shah SM, López-Font FJ, Negron CI, and Berrocal AM
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Purpose: To evaluate the retinal vasculature in pediatric patients with telomere biology disorders (TBDs)., Design: Retrospective consecutive case series., Subjects: Pediatric patients with a diagnosis of TBD who underwent widefield fluorescein angiography (FA)., Methods: Electronic medical records of pediatric patients with TBD at a tertiary referral eye center were reviewed from January 2019 to July 2023. Vascular phenotype was assessed by reviewing FA images., Main Outcome Measures: Incomplete peripheral vascularization, aneurysmal dilatation, terminal arborization, anastomotic loops, capillary dropout, neovascularization, tortuosity, leakage from tractional membranes, and blockage from hemorrhage., Results: Fourteen eyes from 7 patients were included. All patients were genetically confirmed for TBD. The most common genetic variants were in CTC1 (5 patients; 71.4%), ACD (1 patient; 14.3%), and RTEL1 (1 patient; 14.3%). On FA, the most common findings were incomplete peripheral vascularization (14 eyes, 100%), aneurysmal dilatation (12 eyes, 85.7%), terminal arborization (12 eyes, 85.7%), anastomotic loops (12 eyes, 85.7%), capillary dropout (10 eyes, 71.4%), and neovascularization (9 eyes, 64.3%). Regarding treatment, laser photocoagulation (14 eyes, 100%), intravitreal bevacizumab injection (13 eyes, 92.6%), and subtenon's Kenalog (11 eyes, 78.6%) were utilized. All patients managed with laser photocoagulation and bevacizumab required multiple treatments., Conclusions: Our study describes a spectrum of vascular changes evidenced by widefield FA in pediatric patients with genetically confirmed TBD. Although further research is warranted to fully understand the etiology of these subtle vascular anomalies, widefield FA should be conducted in patients with genetically confirmed or suspected TBD., Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article., (Copyright © 2024 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
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- 2024
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3. Fluorescein Angiography Parameters in Premature Neonates.
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da Cruz NFS, Hoyek S, Sengillo JD, Rodríguez A, de Oliveira G, Negron CI, Patel NA, and Berrocal AM
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Purpose: To describe fluorescein angiography (FA) parameters observed in premature neonates with retinopathy of prematurity (ROP)., Design: Retrospective case series., Subjects: Patients with ROP who underwent FA imaging using Retcam at Holtz Children's Hospital from November 2014 to October 2022., Methods: Fluorescein angiography images of the included patients were analyzed with a focus on the timing of angiography phases, including choroidal flush, retinal, and recirculation phases. Gestational age, birth weight (BW), age at imaging, treatment choice, and any FA complications were documented., Main Outcome Measures: Dose of fluorescein administered, onset and duration of each angiography phase, and FA findings in ROP-treated patients., Results: A total of 72 images of 72 eyes were reviewed. Image quality was deemed suitable for inclusion in 64 eyes (88.9%) of 43 patients. The mean gestational age and BW at birth were 24.4 ± 1.9 weeks and 607.8 ± 141.3 g, respectively. The mean postmenstrual age at FA imaging was 50.5 ± 40.8 weeks. All eyes (100%) received treatment with intravitreal injection of anti-VEGF at a mean age of 35.5 ± 2.4 weeks. The onset and duration of angiography phases were relatively variable within the cohort. Choroidal flush occurred at a mean time of 12.2 seconds (range: 6-22 seconds). A subsequent retinal phase was documented at a mean time of 11.96 seconds (range: 3-22 seconds). Recirculation phase was complete at an average time of 2.15 minutes (range: 1-5.45 minutes) postfluorescein injection. None of patients developed allergic reactions to fluorescein injection, such as rash, respiratory distress, tachycardia, fever, or local injection site reactions., Conclusions: Angiographic phases on FA in preterm infants with ROP are variable and may occur earlier than the established references for adults., Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article., (© 2024 Published by Elsevier Inc. on behalf of the American Academy of Ophthalmology.)
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- 2024
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4. Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR -associated oculo-facio-cardio-dental (OFCD) syndrome.
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Fan J, Santos da Cruz NF, Negron CI, Zhu AY, Chang TC, and Berrocal AM
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Purpose: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy., Observations: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome., Conclusions and Importance: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 Published by Elsevier Inc.)
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- 2024
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5. Intraoperative OCT Angiography in Pediatric Patients with Persistent Fetal Vasculature.
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da Cruz NFS, Sengillo JD, Hudson JL, Carletti P, de Oliveira G, Negron CI, Felder MB, and Berrocal AM
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- Humans, Child, Tomography, Optical Coherence methods, Cross-Sectional Studies, Prospective Studies, Fluorescein Angiography methods, Persistent Hyperplastic Primary Vitreous diagnosis
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Purpose: To describe abnormalities of the optic nerve microvasculature in patients with persistent fetal vasculature (PFV) and their fellow eyes using OCT angiography (OCTA)., Design: Cross-sectional study., Subjects: Fifty eyes of 25 patients with PFV who underwent prospective imaging using supine OCTA during examination under anesthesia at Bascom Palmer Eye Institute from March 1, 2019, to December 31, 2022., Methods: OCT angiography images of the optic nerve of the included patients were analyzed with a primary focus on blood flow. Demographic, clinical, and treatment factors were compared with morphologic changes in the optic disc microvasculature., Main Outcome Measures: Prevalence of optic nerve microvascular abnormalities on OCTA in the affected and fellow eyes of patients with PFV., Results: A total of 50 eyes from 25 patients were reviewed, and 28% (7/25) met image quality criteria for OCTA analysis. Optic nerve OCTA showed a persistent hyaloid artery (PHA) in all (7/7) PFV eyes analyzed. Of these, flow on OCTA was detectable in 57% (4/7). A Bergmeister papilla was evident in 100% (25/25) fellow eyes, of which flow was detected in 68% (17/25). Fluorescein angiography (FA) demonstrated blood flow within the stalk in 40% (10/25) of PFV eyes and within the Bergmeister papilla in 25% (6/25) of fellow eyes. Similar findings of abnormal blood flow and presence of fibrovascular stalk were seen in both treatment-naïve and treated groups., Conclusions: OCT angiography allows for high-resolution visualization of subtle vascular abnormalities that are not readily apparent using RetCam FA and may serve as a useful noninvasive test to confirm the patency of the PHA and Bergmeister papilla in children. The results of the present study suggest that PFV may be a bilateral and asymmetric process., Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article., (Copyright © 2023 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
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- 2023
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6. Patients With Dragged Optic Disc Vessels and Retinal Folds: Clinical Features, Multimodal Imaging, and Histopathology.
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Iyer PG, Ashkenazy N, Carletti P, Hudson JL, Patel NA, Sengillo JD, Kunkler AL, Lazzarini TA, Khzam RA, Tang V, Negron CI, Dubovy S, Flynn HW Jr, and Berrocal AM
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- Male, Adult, Female, Infant, Newborn, Humans, Child, Preschool, Retina pathology, Multimodal Imaging, Retrospective Studies, Optic Disk pathology, Retinal Diseases pathology, Vascular Diseases pathology
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Background and Objective: To describe the multimodal imaging and histopathological features of patients with dragged optic disc vessels (DODV)., Patients and Methods: This is a retrospective, observational analysis using multimodal imaging of eyes with DODV in patients with retinal vascular diseases including familial exudative vitreoretinopathy, inflammatory disease, and others. In addition, two additional enucleated eyes with DODV underwent histopathological analysis., Results: Of the 13 patients, eight were girls and five were boys. Mean age was 5 years (ranging from 4 months to 10 years old). Of the 15 eyes, 12 (80%) demonstrated temporal dragging and three (20%) had nasal dragging. Retinal vascular abnormalities were present in 11 of the fellow eyes. Multimodal imaging demonstrated features of DODV including direction of traction, outer retinal thickening, increased flow, and other features. Only two (13.3%) eyes required surgical intervention. Mean follow-up was 14 (range 3 to 30 months) months. At last follow-up all eyes remained stable. Last visual acuity ranged from 20/100 to counting fingers. As well, two enucleated globes of adults with retinopathy of prematurity underwent histopathologic evaluation, showing optic nerve fibers that extended from the optic nerve into the DODV., Conclusions: DODV is a sign of various late-stage retinal vascular diseases, associated with poor visual function. Multimodal imaging and histopathology can assist in understanding the disease pathology. [ Ophthalmic Surg Lasers Imaging Retina 2023;54:634-642.] .
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- 2023
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7. Retinal Detachments in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Surgical Outcomes.
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Sengillo JD, Al-Khersan H, Rohowetz L, Shoji MK, Robles-Holmes H, Cruz NFSD, Negron CI, Yannuzzi NA, Patel NA, and Berrocal AM
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- Male, Humans, Child, Female, Retrospective Studies, Treatment Outcome, Scleral Buckling methods, Vitrectomy methods, Retinal Detachment diagnosis, Retinal Detachment etiology, Retinal Detachment surgery, Retinoschisis diagnosis, Retinoschisis etiology, Retinoschisis surgery, Macula Lutea
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Background and Objective: Retinal detachments (RDs) are a complication of X-linked retinoschisis (XLRS) with a poor prognosis. This study aims to report outcomes of XLRS-RD repair in pediatric patients., Materials and Methods: The study is a retrospective analysis of pediatric patients undergoing vitreoretinal surgery for XLRS-RDs from 2000 to 2022., Results: Nine patients (11 eyes) met inclusion criteria. All patients were boys, with a mean age of 8 years. Most RDs arose inferiorly (64%). Seven (64%) detachments were macula-involving. Seven (64%) detachments were repaired with combined scleral buckling and vitrectomy, two (18%) detachments were repaired with vitrectomy alone, one (9%) detachment underwent a primary scleral buckling procedure, and one (9%) asymptomatic detachment with a pigment demarcation line was observed. Silicone oil was used in eight of nine (89%) eyes undergoing vitrectomy. Final visual acuity was 20/200 or better in eight (73%) eyes. One eye that underwent surgical intervention remained unattached at follow-up., Conclusion: Surgical repair in patients with XLRSRDs was associated with successful reattachment, although visual prognosis varied. [ Ophthalmic Surg Lasers Imaging Retina 2023;54:574-579.] .
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- 2023
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8. Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration.
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Ashkenazy N, Sengillo JD, Iyer PG, Negron CI, Yannuzzi NA, and Berrocal AM
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- Female, Humans, Adolescent, Vitreous Body pathology, Tomography, Optical Coherence methods, Retinoschisis diagnosis, Retinoschisis genetics, Retinoschisis pathology, Retinal Degeneration diagnosis, Retinal Degeneration genetics, Retinal Degeneration pathology, Retinal Detachment diagnosis, Retinal Detachment genetics, Retinal Detachment surgery, Retinal Perforations pathology
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Introduction: An 18-year old highly myopic woman presented with bilateral retinoschisis associated with a unilateral macular hole in the right eye and vitreomacular traction in the left eye., Methods: Genetic studies disclosed a heterozygous pathogenic variant in the KCNJ13 gene was identified (c.484C>T (p.Arg162Trp)), consistent with a diagnosis of snowflake vitreoretinal degeneration (SVD)., Results: While there were no corneal guttata, juvenile cataracts, or perivascular sheathing in this case, salient features of SVD included a fibrillar vitreous structure, crystalline retinopathy, and flattened optic nerves. The patient developed a FTMH in the left eye at 17 months follow up, followed by a rhegmatogenous retinal detachment (RRD) requiring 2 surgical repairs., Conclusion: This case expands on the spectrum of clinical features in SVD, including retinoschisis and FTMH. It also characterizes optical coherence tomography findings in this rare disease entity. We emphasize the importance of using panel-based genetic testing to clinically distinguish and further define atypical vitreoretinopathies.
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- 2023
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9. A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics.
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Fan J, da Cruz NFS, Fan KC, Negron CI, Amescua G, Grajewski AL, Chang TC, and Berrocal AM
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Purpose: To report a case of Axenfeld-Rieger and Stickler Syndrome in a pediatric patient., Observations: A 3-month-old male was referred to the glaucoma clinic after he was noted to have elevated intraocular pressures in both eyes. His family history was notable for infantile glaucoma on his maternal side and retinal detachment on his paternal side. He was found to have anterior segment dysgenesis with iris strands, iridocorneal adhesions, and corectopia, as well as veil-like vitreous in both eyes. He required trabeculotomy, goniotomy, and multiple Baerveldt glaucoma implants in both eyes to achieve intraocular pressure control. Furthermore, the patient later developed macula-involving retinal detachments in both eyes, requiring pars plana vitrectomy with silicone oil tamponade. Genetic analysis confirmed heterozygous pathogenic variants in both the FOXC1 and COL2A1 genes, leading to the concurrent diagnoses of Axenfeld-Rieger and Stickler syndromes., Conclusions and Importance: This is a rare case of a patient with concurrent Axenfeld-Rieger and Stickler syndromes. The severity of pathology in both the anterior and posterior segments required a collaborative multidisciplinary approach. In the diagnostic evaluation of congenital eye diseases, if there is strong family history of atypical findings for a given diagnosis, concurrent syndromes should be considered and ruled out. A comprehensive eye genetics panel may be a useful tool in these cases., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2023 The Authors.)
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- 2023
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10. Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.
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da Cruz NFS, Sengillo JD, Al-Khersan H, Negron CI, Felder MB, Patel NA, and Berrocal AM
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- Child, Humans, Bevacizumab, Retina, Retrospective Studies, Vitreous Hemorrhage diagnosis, Vitreous Hemorrhage etiology, Retinoschisis diagnosis
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Objective: To report the management and outcomes of vitreous hemorrhage in pediatric patients with X-linked retinoschisis (XLRS)., Materials and Methods: Retrospective case series of pediatric patients with XLRS with vitreous hemorrhage between January 2000 and January 2022 at the Bascom Palmer Eye Institute., Results: Nine patients (12 eyes) met inclusion criteria. The average age at presentation was 5.75 years and mean follow-up time was 6 years. All eyes (58.3%) that underwent fluorescein angiography exhibited peripheral capillary dropout. Six of 12 eyes (50%) were observed without intervention. Four of 12 eyes (33.3%) underwent intravitreal injection of bevacizumab and 2 (16.6%) underwent vitreoretinal surgery. Seven of 12 eyes (58.3%) had documented recurrence of vitreous hemorrhage during follow-up. All retinas were attached and had clear media at final follow-up., Conclusion: Fluorescein angiography is a helpful tool to evaluate the vascular phenotype in XLRS. Favorable anatomic outcomes were noted in this cohort, but recurrence of vitreous hemorrhage was common. [ Ophthalmic Surg Lasers Imaging Retina 2023;54:513-518.] .
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- 2023
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11. Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia.
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da Cruz NFS, Sengillo JD, Fan J, Negron CI, Felder MB, and Berrocal AM
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- Humans, Child, Infant, Adolescent, Retinal Vessels, Retrospective Studies, Retina, Fluorescein Angiography methods, Optic Disk, Optic Nerve Hypoplasia
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Purpose: This study aims to report the association of optic nerve hypoplasia (ONH), peripheral retinal nonperfusion, and secondary complications in pediatric patients., Design: Retrospective case series., Methods: The study was conducted between January 2015 and January 2022 at the Bascom Palmer Eye Institute. Inclusion criteria were clinical diagnosis of optic disc hypoplasia, age <18 years, and a fluorescein angiography (FA) of acceptable quality., Results: Seven patients (11 eyes) met inclusion criteria. Average age at presentation was 3.5 years (range 1 month-8 years) and the mean follow-up time was 34.28 months (range 2-87 months). Four patients (57.14%) showed bilateral optic disc hypoplasia. All eyes exhibited peripheral retina nonperfusion on FA, in which mild severity was found in 7 eyes (63.63%), moderate in 2 eyes (18.18%), severe in 1 eye (9.09%) and extreme in 1 eye (9.09%). Eight eyes (72.72%) showed evidence of 360 degrees of retinal nonperfusion. Two patients (18.18%) were diagnosed with concurrent retinal detachment that were deemed inoperable at the time of diagnosis. All cases were observed without intervention. None of the patients were observed to have complications during follow-up., Conclusion: Among pediatric patients with ONH, there appears to be a high rate of concurrent retinal nonperfusion. In these cases, FA is a helpful tool to detect peripheral nonperfusion. Retinal findings are subtle in some cases and may not be detectable in children with suboptimal imaging performed without examination under anesthesia., (Copyright © 2023 Elsevier Inc. All rights reserved.)
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- 2023
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12. Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI.
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Patel MM, Lazzarini TA, Uhr JH, Negron CI, and Berrocal AM
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- Humans, Hematoma surgery, Hematoma complications, Patients, Vitreoretinal Surgery, Ehlers-Danlos Syndrome complications, Ehlers-Danlos Syndrome diagnosis
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- 2023
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13. TRANSCORNEAL INTRAVITREAL INJECTION TECHNIQUE FOR PEDIATRIC PATIENTS WITH APHAKIA AND POSTVITRECTOMIZED EYES.
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da Cruz NFS, Fernandez MP, Sengillo JD, Negron CI, and Berrocal AM
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- Humans, Child, Intravitreal Injections, Vitreous Body, Aphakia
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- 2023
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14. Familial Exudative Vitreoretinopathy-Like Phenotype in a Patient With Microcephaly and TUBGCP6 Mutations.
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Sengillo JD, Ashkenazy N, Shoji MK, Iyer P, Robles-Holmes HK, Lopez A, Yannuzzi NA, Negron CI, and Berrocal AM
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Purpose: To describe a case of microcephaly, unilateral retinal fold, and familial exudative vitreoretinopathy (FEVR)-like phenotype in the context of 2 TUBGCP6 variants. Methods: A case and its findings were analyzed. Results: A 4-month-old boy with no family history of eye disease presented by referral for management of presumed persistent fetal vasculature in the left eye. An external examination showed microcephaly. The patient grimaced to light in both eyes, and the anterior segments were unremarkable. On dilated fundus examination, diffuse chorioretinal atrophy was present bilaterally. In the left eye, a retinal fold emanated from the optic nerve head. There was early termination of retinal vasculature, especially in zone 3 in the left eye, resembling a FEVR-like phenotype. Panel-based genetic testing was performed and found 2 mutations in TUBGCP6 . Conclusions: Microcephaly, chorioretinopathy, and retinal folds may be associated with TUBGCP6 mutations and masquerade as PFV., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)
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- 2023
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15. A Comparison of Intensity-Modulated Radiotherapy With Simultaneous Integrated Boost With Three-Dimensional Conformal Radiotherapy With Sequential Boost for Locally Advanced Cervical Cancer: A Dosimetric Study.
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Figueredo Negron CI, Gamboa Garay O, Pabón Girón A, Esguerra Cantillo JA, and Guerrero Lizcano E
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Objective The aim of this study was to compare the dosimetric criteria between the intensity-modulated radiation therapy (IMRT) technique with a simultaneous integrated boost (SIB) and the three-dimensional conformal radiation therapy (3DCRT) technique with a sequential boost (SB) plans for patients with locally advanced cervical cancer (LACC). Materials and methods A retrospective dosimetric comparison was performed in 15 patients with locally advanced cervical cancer who had previously been treated with fractions of 1.8 Gy up to doses of 45, 54-55.8, and 59.4 Gy in 28-33 sessions using the three-dimensional conformal radiation therapy (3DCRT) technique with a sequential boost (SB) and who had a new planning that was made using the intensity-modulated radiation therapy (IMRT) technique with a simultaneous integrated boost (SIB) in 25 sessions. The conformity index, quality of coverage, homogeneity index, mean doses, maximum doses, and different organ at risk (OAR) dose constraints were calculated for the dosimetric comparison of treatment plans. Descriptive analysis was performed using measures of central tendency and dispersion for the quantitative variables and absolute and relative frequencies for the qualitative variables. The comparison was made using the Wilcoxon signed rank sum test for a type I error level of 0.05. The statistical software Stata 11 (StataCorp LLC, College Station, Texas, USA) was used in the analysis. Results The mean age of the patients was 52 years, 33% were stage IIIB, and 67% had squamous cell carcinomas. The conformity index was 0.74 and 0.46 (difference: 0.28; p<0.01), the quality of coverage was 0.84 and 0.94 (difference: -0.10; p<0.01), and the homogeneity index was 0.12 and 0.070 (difference: 0.052; p<0.01) for IMRT-SIB and 3DCRT-SB, respectively. When the mean doses of the OARs were compared, all were lower with the IMRT-SIB technique, with statistically significant differences in the rectum and bladder. Conclusions The IMRT-SIB technique achieves a greater conformation of the doses on the treatment volumes with a significant reduction of the doses on the bladder and rectum., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Figueredo Negron et al.)
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- 2022
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16. CRVO associated with COVID-19 and MTHFR mutation in a 15-year-old male.
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Staropoli PC, Payson A, Negron CI, Prakhunhungsit S, Laufer P, and Berrocal AM
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Purpose: To report a case of a central retinal vein occlusion (CRVO) associated with COVID-19 in a patient predisposed to clotting due to a genetic mutation in methylenetetrahydrofolate reductase (MTHFR)., Observations: A 15-year-old male presented with 1 day of painless blurry vision in the left eye. Exam disclosed trace anterior chamber cell, anterior vitreous cell, optic nerve head edema, temporally displaced macular star, dilated tortuous veins, and diffuse intraretinal hemorrhages. Exam and FA was consistent with CRVO, however the macular star and OCT were suggestive of a neuroretinitis.The patient then presented to a children's hospital for further evaluation. A routine screen for COVID-19 via nasopharyngeal swab was positive with a high viral load. He also had a known history of an MTHFR mutation. Extensive laboratory and neuroradiologic evaluation excluded other infectious, inflammatory, and coagulopathic etiologies., Conclusions and Importance: This is a case of CRVO associated with COVID-19 infection and an underlying systemic hypercoagulable mutation, with an initial presentation that mimicked neuroretinitis. This case provides valuable diagnostic learning points and expands our knowledge of possible ocular complications of COVID-19., Competing Interests: None., (© 2022 Published by Elsevier Inc.)
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- 2022
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17. Retinal Folds as a Clinical Feature of X-Linked Retinoschisis: A Series of Three Cases.
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Laura DM, Ashkenazy N, Anzaldo EF, Negron CI, and Berrocal AM
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- Eye Proteins genetics, Humans, Multimodal Imaging, Retina, Tomography, Optical Coherence methods, Visual Acuity, Retinoschisis diagnosis, Retinoschisis genetics
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Background and Objective: The most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS., Patients and Methods: This was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging., Results: Three patients with XLRS were found to have retinal folds, including a newly characterized "retinal scroll" seen on examination and multimodality imaging., Conclusions: The presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management. [ Ophthalmic Surg Lasers Imaging 2022;53(6):326-331.] .
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- 2022
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18. Intraoperative OCT Angiography in Children with Incontinentia Pigmenti.
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Kunkler AL, Patel NA, Russell JF, Fan KC, Al-Khersan H, Iyer PG, Acon D, Negron CI, Yannuzzi NA, and Berrocal AM
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- Child, Fluorescein Angiography, Humans, Retinal Vessels, Tomography, Optical Coherence, Incontinentia Pigmenti complications, Incontinentia Pigmenti diagnosis, Incontinentia Pigmenti surgery
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- 2022
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19. Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma.
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Fan J, Venkateswaran N, Fan KC, Cernichiaro LA, Negron CI, McKeown CA, and Berrocal AM
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Purpose: To report the first case of retinal astrocytic hamartoma (RAH) arising in the setting of Familial Exudative Vitreoretinopathy (FEVR)., Observations: An otherwise healthy 3-month-old male was clinically diagnosed with Familial Exudative Vitreoretinopathy, with subsequent confirmation of a Frizzled-4 nonsense gene mutation. He was treated with multiple rounds of laser photocoagulation after demonstrated peripheral non-perfusion on fluorescein angiography. At 4 years of age, he was noted to have a solitary retinal astrocytic hamartoma in an area of anterior retinal traction which remains under observation., Conclusions and Importance: This case describes the first reported instance of a retinal astrocytic hamartoma arising in the setting of FEVR. Multiple factors may have contributed to the formation of this benign tumor, including retinal dysgenesis, genetic background, or even laser photocoagulation. More case reports and/or molecular studies are required to further clarify the potential role of these insults in the pathogenesis of RAH., Competing Interests: The following authors have no financial disclosures: JF, NV, KCF, LAC, CIN, CAM, AMB., (© 2022 Published by Elsevier Inc.)
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- 2022
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20. Retinopathy of Prematurity: Advances in the Screening and Treatment of Retinopathy of Prematurity Using a Single Center Approach.
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Berrocal AM, Fan KC, Al-Khersan H, Negron CI, and Murray T
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- Birth Weight, Gestational Age, Humans, Incidence, Infant, Low Birth Weight, Infant, Newborn, Neonatal Screening, Retrospective Studies, Risk Factors, Retinopathy of Prematurity diagnosis, Retinopathy of Prematurity epidemiology, Retinopathy of Prematurity therapy
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Purpose: To focus on the longitudinal evaluation of high-risk infants for the development of retinopathy of prematurity (ROP) at a single tertiary neonatal intensive care unit (NICU), and to evaluate evolving demographics of ROP and the transition of treatment-warranted disease., Design: Retrospective cohort study., Methods: A consecutive retrospective review was performed of all infants screened for ROP between 1990 and 2019 at the Jackson Memorial Hospital neonatal intensive care unit. All inborn infants meeting a birth criteria of <32 weeks' gestational age (GA) or a birthweight (BW) of 1500 g were included. Longitudinal demographic, diagnostic, and treatment data were reported., Results: Between January 1, 1990, and June 20, 2019, a total of 25,567 examinations were performed and 7436 patients were included. Longitudinal trends over 3 decades demonstrated a decreasing incidence of ROP (P < .05). Although the mean BW and GA increased over 3 decades, patients with ROP demonstrated lower BW and GA over time (P < .05). The prevalence of micro-premature infants (as defined by BW <750 g) continues to rise over time. Micro-preemies demonstrated increasing severity of zone and stage grading, plus disease, and propensity to require treatment (P < .05). The rate of progression of ROP to stage 4 and 5 disease has decreased over time, and there has been an associated increased adoption of intravitreal bevacizumab as primary and salvage therapy., Conclusions: Understanding the evolution of ROP infants and treatment over time is critical in identifying high-risk infants and in reducing the incidence of severe-stage ROP. Micro-prematurity is one of the significant risk factors for treatment-warranted ROP that continues to increase as neonatal care improves. NOTE: Publication of this article is sponsored by the American Ophthalmological Society., (Copyright © 2021 Elsevier Inc. All rights reserved.)
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- 2022
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21. Fundus Pigmentation in the Diagnosis and Treatment of Retinopathy of Prematurity.
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Fan KC, Read SP, Patel NA, Vanner EA, Al-Khersan H, Laura DM, Pakravan P, Negron CI, and Berrocal AM
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- Birth Weight, Female, Gestational Age, Humans, Infant, Newborn, Intravitreal Injections, Male, Retrospective Studies, Vascular Endothelial Growth Factor A antagonists & inhibitors, Angiogenesis Inhibitors therapeutic use, Bevacizumab therapeutic use, Fundus Oculi, Pigmentation physiology, Retinopathy of Prematurity diagnosis, Retinopathy of Prematurity drug therapy
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- 2021
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22. Case report: Vitreous hemorrhage as the presenting sign of retinal cavernous hemangioma in a newborn.
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Fowler BJ, Simon L, Scott NL, Negron CI, and Berrocal AM
- Abstract
Purpose: To report a case of vitreous hemorrhage as the presenting sign of retinal cavernous hemangioma (RCH) in a newborn., Observations: A five-week-old full-term male with a history of seizures and birth trauma underwent ophthalmology screening. Initial eye examination revealed vitreous hemorrhage. Subsequent examination under anesthesia with multi-modal imaging revealed vitreous hemorrhage and an intra-retinal mass with numerous sac-like aneurysmal dilatations, consistent with RCH., Conclusions and Importance: Vitreous hemorrhage in a neonate is an atypical presentation of RCH. Clinicians should be aware that birth trauma may lead to vitreous hemorrhage from RCH. This is the first description of RCH, a rare retinal vascular tumor, in a newborn., Competing Interests: None. The patients have no relevant financial disclosures., (© 2021 Published by Elsevier Inc.)
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- 2021
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23. Widefield Fluorescein Angiography in the Fellow Eyes of Patients with Presumed Unilateral Persistent Fetal Vasculature.
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Laura DM, Staropoli PC, Patel NA, Yannuzzi NA, Nolan RP, Al-Khersan H, Fan KC, Flynn HW Jr, Acon D, Negron CI, and Berrocal AM
- Subjects
- Female, Fundus Oculi, Humans, Infant, Newborn, Male, Persistent Fetal Circulation Syndrome complications, Retinal Diseases etiology, Retinal Vessels diagnostic imaging, Retrospective Studies, Choroid blood supply, Fluorescein Angiography methods, Persistent Fetal Circulation Syndrome diagnosis, Retinal Diseases diagnosis, Retinal Vessels abnormalities
- Abstract
Purpose: To examine the retinal vascular findings on widefield fluorescein angiography (FA) in the fellow eyes of patients with unilateral persistent fetal vasculature (PFV)., Design: Retrospective case series., Participants: Consecutive patients with unilateral PFV evaluated by a single physician at an academic medical center from February 1, 2011, to November 30, 2018., Methods: Clinical and demographic information, including age, gender, race, ethnicity, affected eye, subtype, stalk origin, complications on presentation, length of follow-up, and examination findings, was reviewed using the electronic medical record. Fluorescein angiograms of the affected and fellow eyes were reviewed by 2 authors for characteristic retinal vascular abnormalities. Agreement between the authors' scores was analyzed using Cohen's Kappa., Main Outcome Measures: Fluorescein angiography abnormalities, including peripheral vessel avascularity, aberrant circumferential vessels, terminal supernumerary branching, regional capillary dropout, terminal bulbing, abnormal choroidal flush, abnormal vessel straightening, and peripheral vessel leakage or dilation., Results: Inclusion criteria were met by 41 patients. The average age at initial visit was 10.0 months. The average length of follow-up was 36.4 months. Abnormalities on FA were seen in 31 (75.6%) fellow eyes: peripheral vessel avascularity in 27.5 (67.1%), aberrant circumferential vessels in 20 (48.8%), terminal supernumerary branching in 17 (41.5%), regional capillary dropout in 9 (22.0%), terminal bulbing in 6 (14.6%), abnormal choroidal flush in 3.5 (8.5%), and abnormal vessel straightening and peripheral vessel leakage in 2.5 (6.1%). Statistical analysis disclosed an overall observed agreement of 93.4% among the raters (κ = 0.84, P < 0.0001)., Conclusions: Retinal vascular abnormalities seen in patients with unilateral PFV were present in the majority of fellow eyes. This suggests that unilateral PFV may in fact be a bilateral, asymmetric process, but the clinical significance of these subtle findings is not known., (Copyright © 2020 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
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24. Persistent Tunica Vasculosa Lentis as an Independent Risk Factor for Treatment in Retinopathy of Prematurity.
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Patel NA, Fan KC, Al-Khersan H, Yannuzzi NA, Acon D, Rodriguez AJ, Negron CI, and Berrocal AM
- Subjects
- Female, Follow-Up Studies, Humans, Infant, Newborn, Male, Retinal Vessels diagnostic imaging, Retinopathy of Prematurity therapy, Retrospective Studies, Disease Management, Lens, Crystalline blood supply, Retinal Vessels abnormalities, Retinopathy of Prematurity diagnosis, Visual Acuity
- Published
- 2021
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25. Use of a Modified Plastic Viewing System for Safer General Anesthesia Care in Pediatric Ophthalmic Surgery During the COVID-19 Pandemic.
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Ashkenazy N, Orihuela G, Rodriguez LI, Negron CI, Harbour JW, and Berrocal AM
- Subjects
- Child, Comorbidity, Eye Diseases epidemiology, Humans, Pandemics, Anesthesia, General methods, COVID-19 epidemiology, Disease Transmission, Infectious prevention & control, Eye Diseases surgery, Ophthalmologic Surgical Procedures standards, Personal Protective Equipment, SARS-CoV-2
- Abstract
Certain pediatric ophthalmology procedures require time-sensitive surgical care to prevent long-term morbidity and mortality. In the era of the COVID-19 pandemic, it has become increasingly important for anesthesia and surgical care providers to protect themselves during medically necessary procedures requiring general anesthesia care. In this study, an intubating viewing system with plexiglass shield and drape was designed. The viewing system allowed effective and safe intubation of pediatric patients for ophthalmological surgery while minimizing the risk of disseminating aerosolized droplets. The authors concluded that this viewing system and modified intubation technique may reduce the risk of transmitting SARSCoV-2 and other highly transmissible pathogens to operating room personnel. The continued study of measures to protect operating room personnel is encouraged to provide more evidence-based recommendations. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:651-652.]., (Copyright 2020, SLACK Incorporated.)
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- 2020
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26. X-Linked Retinoschisis and a Coats-Like Response in the Setting of Retinopathy of Prematurity.
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Fan KC, McAllister MA, Yannuzzi NA, Patel NA, Prakhunhungsit S, Negron CI, Capó H, and Berrocal AM
- Abstract
Purpose: This case report describes a unique case of a young patient with retinopathy of prematurity (ROP), a unilateral Coats-like response, and X-linked retinoschisis (XLRS)., Methods: A 9-year-old boy with a history of regressed ROP presented with a unilateral Coats-like response, subretinal exudation, and XLRS. Examination and imaging findings demonstrated a highly unique combination of bilateral retinoschisis and a dramatic unilateral Coats-like response with a large schisis cavity., Results: Treatment with laser photocoagulation and anti-VEGF therapy led to resolution of the subretinal exudative changes., Conclusions: This is the first published description to our knowledge of a patient with a Coats-like response, XLRS, and a history of regressed ROP with resolution after treatment., Competing Interests: Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2020
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27. Peripheral combined hamartoma of the retina and retinal pigment epithelium with remote peripapillary choroidal neovascular membrane.
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Lazzarini TA, Al-Khersan H, Patel NA, Russell JF, Fan KC, De Oliveira G, Negron CI, Mavrofrides E, and Berrocal AM
- Abstract
Purpose: To describe the first reported case of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) associated with a remote choroidal neovascular membrane (CNVM)., Observations: A 19-month-old girl with a normal prenatal and infantile history presented with esotropia of the left eye. Fundus examination demonstrated a large, elevated, charcoal-colored lesion in the nasal equatorial retina. There was dragging of the nasal retinal vessels and a retinal fold, presumed to have resulted from nasal traction from the lesion. There was also subretinal hemorrhage in the peripapillary macula. Multimodal imaging demonstrated a peripapillary choroidal neovascular membrane (CNVM) underlying the retinal fold. There was no leakage within the tumor or secondary retinal neovascularization. Examination of the fellow eye was unremarkable. The patient was diagnosed with peripheral CHRRPE with associated peripapillary CNVM. She was treated with serial intravitreal bevacizumab to the affected eye which resulted in a reduction in leakage from the CNVM and resolution of the subretinal hemorrhage. The CHRRPE remained stable on follow-up., Conclusions: Peripheral CHRRPE can rarely be associated with a remote CNVM., Competing Interests: Dr Audina M. Berrocal reports the following disclosures: Administrative board member for Allergan PLC and Bayer; Consultant for Alcon, Dorc (Dutch Ophthalmic Research Center International BV), Visunex, and Phoenix. The following authors have no financial disclosures: TAL, HA, NAP, JFR, KCF, GDO, CIN, EM., (© 2020 Published by Elsevier Inc.)
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- 2020
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28. Bilateral atypical lamellar holes in a patient with oculocutaneous albinism.
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Falcone MM, Patel NA, Yannuzzi NA, Acon D, Negron CI, McKeown C, and Berrocal AM
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- Child, Female, Humans, Prognosis, Albinism, Oculocutaneous physiopathology, Fovea Centralis pathology, Retinal Perforations pathology
- Abstract
Background: Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition., Materials and Methods: Case report., Results: We present a case of oculocutaneous albinism with bilateral atypical lamellar holes which may represent part of the spectrum of retinal abnormalities in this condition., Conclusion: Optical coherence tomography can be helpful in diagnosing albinism. Variable expressivity leads to a range of macular pathology in albinism which may include atypical lamellar holes as described in this patient.
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- 2020
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29. A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
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Han E, Patel NA, Yannuzzi NA, Laura DM, Fan KC, Negron CI, Prakhunhungsit S, Thorson WL, and Berrocal AM
- Subjects
- Ataxia complications, Ataxia genetics, Brain Neoplasms complications, Brain Neoplasms genetics, Calcinosis complications, Calcinosis genetics, Central Nervous System Cysts complications, Central Nervous System Cysts genetics, Dyskeratosis Congenita complications, Dyskeratosis Congenita genetics, Female, Humans, Infant, Leukoencephalopathies complications, Leukoencephalopathies genetics, Muscle Spasticity complications, Muscle Spasticity genetics, Prognosis, Retinal Diseases complications, Retinal Diseases genetics, Seizures complications, Seizures genetics, Ataxia pathology, Brain Neoplasms pathology, Calcinosis pathology, Central Nervous System Cysts pathology, Dyskeratosis Congenita pathology, Leukoencephalopathies pathology, Muscle Spasticity pathology, Mutation, Retinal Diseases pathology, Seizures pathology, Telomere-Binding Proteins genetics
- Abstract
Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.
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- 2020
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30. Bilateral, Solitary, Extramacular Vitelliform Retinal Lesions in a Patient With Best Disease.
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Duker J, Patel NA, Yannuzzi NA, Prakhunhungsit S, Negron CI, and Berrocal AM
- Abstract
Purpose: This work describes the first published case of Best vitelliform macular dystrophy (BVMD) with bilateral, solitary, extramacular retinal lesions., Methods: A case report is presented., Results: An 8-year-old girl with a family history of BVMD was referred for suspicious peripheral retinal lesions. Multimodal imaging disclosed bilateral, solitary, extramacular lesions consistent with the vitelliform lesions found in BVMD. There were no abnormalities in the macula., Conclusions: This is the first documented case of solitary, bilateral, extramacular vitelliform lesions in BVMD., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2020.)
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- 2020
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31. Surgical Techniques for the Subretinal Delivery of Pediatric Gene Therapy.
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Fan KC, Yannuzzi NA, Patel NA, Negron CI, Sisk RA, Nagiel A, and Berrocal AM
- Subjects
- Child, Humans, Injections, Intraocular, Retina, Retinal Diseases diagnosis, Tomography, Optical Coherence methods, Vitrectomy methods, Genetic Therapy methods, Retinal Diseases therapy
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- 2020
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32. Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature.
- Author
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Staropoli PC, Yannuzzi NA, Patel NA, Negron CI, Prakhunhungsit S, and Berrocal AM
- Subjects
- Diagnosis, Differential, Genetic Testing, Humans, Infant, Male, Mutation, Eye Diseases, Hereditary genetics, Frizzled Receptors genetics, Vitreoretinopathy, Proliferative genetics
- Abstract
This is a report of a 13-month-old boy who presented with a large unilateral fibrovascular stalk and bilateral peripheral retinal avascularity. Although consistent with both persistent fetal vasculature and familial exudative vitreoretinopathy, genetic testing disclosed a novel pathogenic mutation in the frizzled class receptor 4 gene (FZD4, c.427_428delCT). [J Pediatr Ophthalmol Strabismus. 2020;57:e4-e7.]., (Copyright 2020, SLACK Incorporated.)
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- 2020
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33. Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction and Pearson Syndrome.
- Author
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Patel NA, Han E, Yannuzzi NA, Fan KC, Negron CI, Prakhunhungsit S, Mendoza-Santiesteban CE, and Berrocal AM
- Subjects
- Acyl-CoA Dehydrogenase, Long-Chain metabolism, Congenital Bone Marrow Failure Syndromes metabolism, Disease Progression, Female, Fluorescein Angiography methods, Follow-Up Studies, Fundus Oculi, Gestational Age, Humans, Infant, Newborn, Lipid Metabolism, Inborn Errors metabolism, Mitochondrial Diseases metabolism, Muscular Diseases metabolism, Retinopathy of Prematurity metabolism, Time Factors, Acyl-CoA Dehydrogenase, Long-Chain deficiency, Congenital Bone Marrow Failure Syndromes diagnosis, Infant, Low Birth Weight, Lipid Metabolism, Inborn Errors diagnosis, Mitochondrial Diseases diagnosis, Muscular Diseases diagnosis, Oxygen metabolism, Retinopathy of Prematurity diagnosis
- Abstract
Retinopathy of prematurity (ROP) is a biphasic disease in which the first phase is characterized by high oxygen tension leading to vaso-obliteration in the retina. Pearson syndrome is a rare multisystem mitochondrial disease with a defect in cellular respiration. The authors describe a patient with Pearson syndrome and delayed onset of ROP at a postconceptual age of 42 weeks. The proposed mechanistic theory was the increased oxygen use associated with the metabolic impairments in Pearson syndrome counterbalancing the effects of supplemental oxygen during the vaso-obliterative stage of ROP. [J Pediatr Ophthalmol Strabismus. 2019;56:e60-e64.]., (Copyright 2019, SLACK Incorporated.)
- Published
- 2019
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34. Circumferential retinal hemorrhages after ophthalmic examination with scleral depression in an infant with anti-VEGF treated retinopathy of prematurity.
- Author
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Hussain RM, Tran KD, Prakhunghunsit S, Fallas B, Negron CI, Rodriguez A, and Berrocal AM
- Subjects
- Angiogenesis Inhibitors therapeutic use, Bevacizumab therapeutic use, Female, Follow-Up Studies, Gestational Age, Humans, Infant, Infant, Extremely Low Birth Weight, Intravitreal Injections, Photography, Retinal Hemorrhage diagnosis, Vascular Endothelial Growth Factor A antagonists & inhibitors, Physical Examination adverse effects, Retinal Hemorrhage etiology, Retinopathy of Prematurity diagnosis, Retinopathy of Prematurity drug therapy, Sclera pathology
- Abstract
We report a case of retinal hemorrhages in a baby with retinopathy of prematurity (ROP) following examination with indirect ophthalmoscopy and scleral depression. There have been rare reports of examination-induced retinal hemorrhages during ROP screening, although those hemorrhages were diffusely scattered in the posterior pole. In this report the hemorrhages were found on the surface of the neovascular ridge. Changes in intraocular pressure caused by scleral depression may result in rupture of the fragile and immature retinal vessels, which have poor autoregulation in these premature babies. Ophthalmologists performing ROP screening examinations should be aware of the possibility of causing retinal hemorrhages with scleral depression, although the hemorrhages will resolve spontaneously., (Copyright © 2019. Published by Elsevier Inc.)
- Published
- 2019
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35. A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia.
- Author
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Fan KC, Patel NA, Yannuzzi NA, Prakhunhungsit S, Negron CI, Basora E, Colin AA, Tekin M, and Berrocal AM
- Abstract
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously described in the literature., Observations: An 11-year-old girl of Indian descent from a consanguineous family presented to our clinic with poor central visual acuity, recurrent sinopulmonary infections, hypotrichosis, and gradual hearing loss. Fundus examination was significant for atrophic retinal pigmented epithelial (RPE) changes involving both the macula and periphery of both eyes with central foveal hypoautofluorescence. Optical coherence tomography (OCT) demonstrated RPE loss and significant disruption of the ellipsoid layer in both eyes. Full-field electrophysiology tests on initial presentation demonstrated low cone amplitude reduced to <70% of normal range without prolongation. OCT angiography of the RPE and choriocapillaris demonstrated possible flow voids in the central macular region of both eyes. Genetic testing showed that the proband was homozygous for variants CDH3 c.1660A > C; p. Thr554Pro and DNAH5 c.6688-1G>T., Conclusion: and Importance: We report two novel variants in the CDH3 and DNAH5 genes that are important for future mutational analysis of both HJMD and PCD respectively. A relationship between the cadherin protein dysfunction in CDH3 mutations and the ciliopathy of DNAH5 mutations has not been established. HJMD is known to cause a longitudinal deterioration of cone and rod mediated function, therefore recognizing the symptoms, visual impairment, physical examination, and photographic and electrophysiological findings is crucial in counseling the patient, the family, and fellow clinicians.
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- 2019
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36. Revascularization After Intravitreal Bevacizumab and Laser Therapy of Bilateral Retinal Vascular Occlusions in Incontinentia Pigmenti (Bloch-Sulzberger Syndrome).
- Author
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Cernichiaro-Espinosa LA, Patel NA, Bauer MS, Negron CI, Fallas B, Pogrebniak A, and Berrocal AM
- Subjects
- Female, Humans, Infant, Intravitreal Injections, Retinal Neovascularization drug therapy, Treatment Outcome, Angiogenesis Inhibitors administration & dosage, Bevacizumab administration & dosage, Incontinentia Pigmenti complications, Laser Coagulation, Retinal Vein Occlusion drug therapy
- Abstract
No consensus exists for the treatment of retinopathy in incontinentia pigmenti (IP). Vascular ischemia leads to tractional retinal detachments if untreated. Ultra-widefield fluorescein angiography (FA) is used to follow the vascular status of the retina. A 13-week-old female with IP presented with bilateral retinal vascular occlusions in both eyes. Ultra-widefield FA showed reperfusion after treatment with intravitreal bevacizumab (IVB) and angiography-guided laser to the avascular retina. Anti-vascular endothelial growth factor treatment reduces neovascularization and allows for growth of retinal vessels. IVB and FA-guided laser to the avascular retina is an option in IP. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e33-e37.]., (Copyright 2019, SLACK Incorporated.)
- Published
- 2019
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37. Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome.
- Author
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Reyes-Capó DP, Chen F, Wilson B, Tarshish B, Ventura CV, Read SP, Negron CI, and Berrocal AM
- Subjects
- Humans, Infant, Newborn, Infant, Premature, Male, Mutation, Retinopathy of Prematurity complications, Septo-Optic Dysplasia genetics, Tubulin genetics
- Abstract
The authors report a case of a premature male neonate born at 25.3 weeks gestational age weighing 605 grams with septo-optic dysplasia (SOD) and a heterozygous mutation in TUBA1A c.715A>C, a critical gene for microtubules, who developed asymmetric and aggressive posterior retinopathy of prematurity (ROP). This report presents a novel mutation associated with SOD and proposes that optic nerve hypoplasia may have potentiated a severe ROP phenotype. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:629-632.]., (Copyright 2018, SLACK Incorporated.)
- Published
- 2018
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38. REPORT OF SAFETY OF THE USE OF A SHORT 32G NEEDLE FOR INTRAVITREAL ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INJECTIONS FOR RETINOPATHY OF PREMATURITY: A Multicenter Study.
- Author
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Cernichiaro-Espinosa LA, Harper CA 3rd, Read SP, Wright LM, Scribbick FW 3rd, Young R, Negron CI, Rodríguez A, and Berrocal AM
- Subjects
- Humans, Infant, Newborn, Intravitreal Injections adverse effects, Vascular Endothelial Growth Factor A antagonists & inhibitors, Angiogenesis Inhibitors administration & dosage, Bevacizumab administration & dosage, Intravitreal Injections instrumentation, Ranibizumab administration & dosage, Retinopathy of Prematurity drug therapy
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- 2018
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- View/download PDF
39. Peripheral Vascular Abnormalities Seen by Ultra-Widefield Fluorescein Angiography in Adults With History of Prematurity: Report of Three Cases.
- Author
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Cernichiaro-Espinosa LA, Williams BK Jr, Martínez-Castellanos MA, Negron CI, and Berrocal AM
- Subjects
- Adult, Female, Fundus Oculi, Humans, Male, Middle Aged, Prospective Studies, Retinal Vessels pathology, Fluorescein Angiography methods, Retinal Vessels abnormalities, Retinopathy of Prematurity diagnosis
- Abstract
Retinopathy of prematurity (ROP) may lead to late-developing complications due to the abnormal vitreoretinal interface. In this case report, three adult patients (ages 39 years, 62 years, and 64 years) with a history of prematurity underwent imaging with ultra-widefield fluorescein angiography (UWFFA). The UWFFA demonstrated late peripheral vascular hyperfluorescence in all three patients, perivascular leakage in two of the patients, hyperfluorescent foveal avascular zone in two of the patients, peripheral avascular retina in two of the patients, vasoproliferative tumor in one of the patients, peripheral neovascularization in one of the patients, and vascular anastomosis in one of the patients. Descriptive analysis of the images is reported. The authors concluded UWFFA reveals details in adults with history of ROP that may gain importance during the follow-up or in the surgical management of these patients; however, prospective studies are needed. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:278-283.]., (Copyright 2018, SLACK Incorporated.)
- Published
- 2018
- Full Text
- View/download PDF
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