1,485 results on '"Iris abnormalities"'
Search Results
2. La Bella Simonetta: Atypical Iris Coloboma Portrayed by Sandro Botticelli.
- Author
-
Moldavsky M
- Subjects
- Humans, Medicine in the Arts history, Paintings history, Coloboma diagnosis, Iris abnormalities
- Published
- 2024
3. Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.
- Author
-
Lei Z, He-Lin Z, Hai-Yan W, Wei J, Ru W, Zhi-Li C, and Qian-Feng W
- Subjects
- Adult, Female, Humans, Male, Middle Aged, East Asian People, Iris abnormalities, Iris pathology, Phenotype, Coloboma genetics, Coloboma pathology, MicroRNAs genetics, Pedigree, Retinitis Pigmentosa genetics
- Abstract
Purpose: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma., Methods: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations., Results: Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members., Conclusions: In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered., (© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
- Published
- 2024
- Full Text
- View/download PDF
4. [Bilateral arteriovenous malformations of the iris].
- Author
-
Gluth L, Helbig H, and Radeck V
- Subjects
- Humans, Male, Female, Iris blood supply, Iris abnormalities, Iris pathology, Arteriovenous Malformations diagnostic imaging, Arteriovenous Malformations pathology, Arteriovenous Malformations diagnosis
- Published
- 2024
- Full Text
- View/download PDF
5. Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination.
- Author
-
Gupta N, Panigrahi A, Gupta N, and Sen S
- Subjects
- Humans, Male, Iris abnormalities, Iris pathology, Carbohydrate Sulfotransferases, Sulfotransferases genetics, Corneal Transplantation methods, Corneal Opacity genetics, Corneal Opacity diagnosis, Corneal Opacity complications, Cornea abnormalities, Cornea pathology, Coloboma genetics, Coloboma diagnosis, Coloboma complications, Corneal Dystrophies, Hereditary genetics, Corneal Dystrophies, Hereditary diagnosis, Corneal Dystrophies, Hereditary complications, Corneal Dystrophies, Hereditary surgery
- Abstract
A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 ( CHST6 ) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2024
- Full Text
- View/download PDF
6. Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique.
- Author
-
Kannan NB, Goswami A, Vallinayagam M, and Sarkar AD
- Subjects
- Humans, Retrospective Studies, Female, Male, Middle Aged, Adult, Iris surgery, Iris abnormalities, Lens Implantation, Intraocular methods, Cataract Extraction methods, Lens, Crystalline abnormalities, Lens, Crystalline surgery, Follow-Up Studies, Coloboma diagnosis, Coloboma complications, Coloboma surgery, Microphthalmos complications, Microphthalmos diagnosis, Microphthalmos surgery, Visual Acuity, Cataract complications, Cataract congenital, Cataract diagnosis
- Abstract
Purpose: Cataract surgery in microphthalmic eyes is challenging due to anatomical restraints, hard bulky nucleus. This series aims to evaluate the safety and efficacy of couching of intraocular lens in irido-fundal coloboma with microphthalmos., Setting: Tertiary care centre in South India., Design: Retrospective non-comparative study in eyes with irido-fundal coloboma, corneal diameter < 7 mm and brown cataract. Visual acuity less than 6/60 in other eye., Methods: Anterior chamber entry made, zonules broken and lens dislocated into the vitreous cavity in a controlled manner. Baseline Clinico-demographic details, corrected distance visual acuity (CDVA), Intra-ocular pressure (IOP), corneal diameter, axial length, lens status and post-surgery CDVA, IOP and complications recorded and followed up for atleast 6 months., Results: Fifteen eyes of 15 subjects were evaluated with a mean age 49.4 ± 10.9 years. At baseline, mean IOP 14.5 ± 3.8 mmHg, mean axial length 19.3 ± 0.5 mm, mean corneal diameter was 6.5 ± 0.34 mm and CDVA 2 logMAR which improved to 1.5 logMAR at 3 months (p value 0.002). Transient spike in IOP in 33.3% subjects was medically managed with no significant difference in IOP (p > 0.05) at baseline (14.5 ± 3.8 mmHg), 3 months post-surgery (16 ± 2.8 mmHg) and 6 months post-surgery (14.9 ± 2.5 mmHg). One patient underwent re-couching. No other major complications were noted., Conclusion: Couching of cataractous lens is an effective and safe method in microphthalmic eyes with irido-fundal coloboma as last resort procedure, where no other surgical procedure may work. It provides an ambulatory gain of visual acuity in previously non-ambulatory subjects. Corneal measurements help in determining the subset of patients where couching offers viable option., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
- Published
- 2024
- Full Text
- View/download PDF
7. Traboulsi syndrome: A case report.
- Author
-
Wang LL, Zhang LY, and Zhou JL
- Subjects
- Humans, Ectopia Lentis, Iris abnormalities, Craniofacial Abnormalities
- Abstract
Competing Interests: Declaration of competing interest None.
- Published
- 2024
- Full Text
- View/download PDF
8. MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
- Author
-
Jedlickova J, Vajter M, Barta T, Black GCM, Perveen R, Mares J, Fichtl M, Kousal B, Dudakova L, and Liskova P
- Subjects
- Humans, Mutation, Pedigree, Iris abnormalities, Coloboma complications, Coloboma genetics, Glaucoma complications, Glaucoma genetics, Cataract genetics, Cataract congenital, MicroRNAs
- Abstract
Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
- Published
- 2023
- Full Text
- View/download PDF
9. Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease.
- Author
-
Gholap RS, Bharucha-Goebel DX, Shats DA, Panchal BK, Chong J, Levin MR, and Alexander JL
- Subjects
- Female, Humans, Child, Preschool, Iris surgery, Iris abnormalities, Microscopy, Acoustic, Walker-Warburg Syndrome complications, Iris Diseases diagnosis, Iris Diseases surgery, Glaucoma diagnosis, Glaucoma etiology, Glaucoma surgery
- Abstract
A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red reflex, hypotonia, cerebral hypoplasia, and iris bombe on ultrasound biomicroscopy, a feature not previously reported in this syndrome. She responded favorably to surgical management. Iris bombe can be a cause of glaucoma in muscle-eye-brain disease. This highlights the importance of incorporating ultrasound biomicroscopy into the diagnostic algorithm of muscle-eye-brain disease and other types of congenital syndromic glaucoma. [ J Pediatr Ophthalmol Strabismus . 2023;60(4):e35-e37.] .
- Published
- 2023
- Full Text
- View/download PDF
10. Congenital microcoria in a Saudi family
- Author
-
Motazz A. Alarfaj, Abdullah A Al-Owaid, Abdullah Alqahtani, and Khalid Al-Arfaj
- Subjects
Ophthalmology ,medicine.medical_specialty ,Iris abnormalities ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Microcoria ,business ,Dermatology ,Genetics (clinical) - Published
- 2019
11. Surgery-induced iris abnormalities after Descemet membrane endothelial keratoplasty and their impact on postoperative clinical outcomes
- Author
-
Akira Kobayashi, Kazuhisa Sugiyama, Hideaki Yokogawa, Natsuko Mori, and Tsubasa Nishino
- Subjects
medicine.medical_specialty ,Shape change ,Descemet membrane ,business.industry ,medicine.medical_treatment ,Retrospective cohort study ,Cataract surgery ,Surgery ,Iris depigmentation ,03 medical and health sciences ,Ophthalmology ,0302 clinical medicine ,medicine.anatomical_structure ,Iris abnormalities ,030221 ophthalmology & optometry ,medicine ,sense organs ,Tamponade ,Iris (anatomy) ,business ,030217 neurology & neurosurgery - Abstract
Purpose: This study aimed to elucidate the frequency of surgery-induced iris abnormalities after Descemet membrane endothelial keratoplasty (DMEK) and their impact on postoperative clinical outcomes. Methods: In this retrospective study, medical records of 32 eyes from 28 consecutive patients (mean age, 65.7±13.4 years; 14 men, 18 women) who underwent DMEK (or triple DMEK) were reviewed. In all patients, inferior peripheral iridectomy was created leaving full intracameral air tamponade at the end of surgery. Sulfur hexafluoride gas was not used in any cases. Surgery-induced iris abnormalities such as pupillary shape changes and iris depigmentation were evaluated by 3 masked observers. Pre-existing abnormalities were excluded. Eyes were divided into two groups based on the presence of surgery-induced iris changes: Group A (with iris abnormalities) and Group B (without). Impacts on postoperative clinical outcomes such as vision and endothelial cell density were analyzed. Results: Surgery-induced iris abnormalities were seen in 15 eyes (Group A, 9 with pupillary shape change and 6 with iris depigmentation; 46.9%), and 17 eyes showed no abnormalities (Group B, 53.1%). No significant differences were detected between groups in age, sex, indication, simultaneous cataract surgery, pre- and 6-month postoperative vision, donor age, donor endothelial cell density, and 6- and 12-month postoperative endothelial cell density. Conclusions: Surgery-induced iris abnormalities were noted in almost half of the eyes after DMEK (46.9%) in this study. However, there was no association between visual outcomes or postoperative endothelial cell density and the iris changes.
- Published
- 2019
12. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
- Author
-
Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista J, and Suri M
- Subjects
- Aspartic Acid genetics, Child, Craniofacial Abnormalities, Ectopia Lentis, Fibrillin-1 genetics, Humans, Iris abnormalities, Mutation, Transcription Factors genetics, Calcium-Binding Proteins genetics, Marfan Syndrome complications, Marfan Syndrome diagnosis, Marfan Syndrome genetics, Membrane Proteins genetics, Mixed Function Oxygenases genetics, Muscle Proteins genetics
- Abstract
Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes flattened malar region with convex nasal ridge. Alterations in the aspartate beta-hydroxylase (ASPH) gene are known to be the cause of the condition. We report seven further individuals from six unrelated families with characteristic ocular and facial features. Five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Interestingly, inguinal hernias were commonly reported. Although some skeletal features were seen, these were not consistent. One of the patients had mild deficiency of factor VII on clotting studies. The ASPH protein hydroxylates specific asparagine- and aspartate-residues in epidermal growth factor (EGF)-domain containing proteins including coagulation factors and associated genes including FBN1. We propose this as an explanation for the overlap in clinical features with Marfan syndrome and conclude that Traboulsi syndrome is an important differential diagnosis. We strongly recommend echocardiography surveillance for patients with Traboulsi syndrome., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
13. Kissing microvitreoretinal blade technique: A novel approach for safe and effective endocapsular lens aspiration in microspherophakia.
- Author
-
Urkude J, Singh R, Titiyal JS, and Sharma N
- Subjects
- Corneal Diseases, Glaucoma, Humans, Iris abnormalities, Iris surgery, Ectopia Lentis complications, Lens Capsule, Crystalline surgery, Lenses, Intraocular
- Abstract
We herein describe the kissing MVR technique in cases of microspherophakia for safe and effective endocapsular lens aspiration. Microspherophakia is associated with abnormally lax and broken zonules, which pose a great challenge to the operating surgeon, especially while creating the openings in the capsular bag. In this novel technique, simultaneous use of two 23 G MVR blades reduces the above problem associated with the severely mobile lens. Here, one MVR blade stabilizes the capsular bag and, at the same time, provides counter-traction for the opposite MVR blade while puncturing the capsular bag. Furthermore, the creation of openings in the lens at the equator or just posterior to it is beneficial as the capsule is relatively thicker and stronger at this location. This also minimizes the risk of premature extension to the anterior or posterior capsule, thereby avoiding complications like dropped lens matter, vitreous prolapse, and vitreous traction., Competing Interests: None
- Published
- 2022
- Full Text
- View/download PDF
14. Complications of Cosmetic Artificial Iris Implantation and Post Explantation Outcomes
- Author
-
Saba Al-Hashimi, Kevin M. Miller, Anthony J. Aldave, and Reza Ghaffari
- Subjects
Adult ,Male ,medicine.medical_specialty ,Intraocular pressure ,genetic structures ,medicine.medical_treatment ,Visual Acuity ,Glaucoma ,Iris ,Prosthesis Implantation ,03 medical and health sciences ,0302 clinical medicine ,Postoperative Complications ,Iris abnormalities ,Ophthalmology ,medicine ,Glaucoma surgery ,Humans ,Iris (anatomy) ,Surgery, Plastic ,Corneal transplantation ,Device Removal ,Intraocular Pressure ,030304 developmental biology ,Retrospective Studies ,0303 health sciences ,Endophthalmitis ,business.industry ,Corneal Edema ,Retrospective cohort study ,Middle Aged ,medicine.disease ,eye diseases ,medicine.anatomical_structure ,030221 ophthalmology & optometry ,Female ,Ocular Hypertension ,sense organs ,Artificial Organs ,Presentation (obstetrics) ,business ,Follow-Up Studies - Abstract
Purpose To report complications of cosmetic artificial iris implantation and explantation outcomes. Design Retrospective case series. Methods Medical records of 12 patients (24 eyes) who presented to us after being implanted with cosmetic artificial irises elsewhere were reviewed. Data collected included baseline demographics, presenting symptoms, examination findings, and management outcomes. Results Eight eyes had NewColorIris implants and 16 had BrightOcular implants. The mean interval from cosmetic iris implantation to presentation was 61.7 ± 60.0 months. The mean follow-up after explantation was 35.5 ± 38.1 months. Complications at presentation included iris abnormalities (11 eyes, 45.8%), elevated intraocular pressure (8 eyes, 33.3%), corneal edema (6 eyes, 25%), intraocular inflammation (5 eyes, 20.8%), and cataract (4 eyes, 16.7%). Surgical interventions included cosmetic iris removal (19 eyes, 79.2%), cataract extraction (7 eyes, 29.2%), corneal transplantation (7 eyes, 29.2%), and glaucoma surgery (4 eyes, 16.7%). Complications at the last follow-up examination included native iris defects (11 eyes, 45.8%), persistent glaucoma (7 eyes, 29.2%), cataract (5 eyes, 20.8%), corneal edema (4 eyes, 16.7%), and intraocular inflammation (2 eyes, 8.3%). The mean logarithm of the minimum angle of resolution was 0.56 ± 0.47 at presentation and 0.78 ± 0.88 at the last examination (P = .30). The mean intraocular pressure was 22.7 ± 15.8 mm Hg at presentation and 13.4 ± 6.99 mm Hg at the last examination (P = .02). Conclusion Cosmetic iris implantation was associated with serious complications at the time of presentation, and adverse sequelae persisted for years after explantation.
- Published
- 2020
15. Lenticular corona: Aura of the microspherophakic lens
- Author
-
Esha Agarwal, Anubha Rathi, Nripen Gaur, Sudarshan Khokhar, and Brijesh Takkar
- Subjects
Physics ,Aura ,business.industry ,Lens (geology) ,Iris ,Glaucoma ,General Medicine ,Ectopia Lentis ,Corneal Diseases ,Corona (optical phenomenon) ,Optics ,Iris abnormalities ,Lens, Crystalline ,Humans ,Female ,business ,Child - Published
- 2020
16. Falsely high rebound tonometry
- Author
-
Rose A Hamershock, Jade M Price, Qiang Ed Zhang, Brooke Saffren, Alex V. Levin, and James Sharpe
- Subjects
Applanation tonometry ,Intraocular pressure ,medicine.medical_specialty ,genetic structures ,Manometry ,Increased corneal diameter ,Cornea ,03 medical and health sciences ,Tonometry, Ocular ,0302 clinical medicine ,Iris abnormalities ,Ophthalmology ,Medicine ,Humans ,In patient ,Child ,Intraocular Pressure ,Retrospective Studies ,business.industry ,Corneal opacity ,Reproducibility of Results ,REBOUND TONOMETRY ,eye diseases ,Corneal diameter ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,sense organs ,business - Abstract
Background Rebound tonometry (RBT) can be used to measure intraocular pressure (IOP) in children unable to tolerate measurement with applanation tonometry (AT) while awake. RBT readings are often 2–3 mm Hg higher than AT. We have experienced children with a repeatedly higher difference between RBT and AT measurements (≥6 mm Hg). The purpose of this study was to identify demographic and ocular characteristics that contribute to this artifactuous discrepancy. Methods The medical records of pediatric patients with IOP measured by RBT followed by AT within 6 months without intervening surgery or change in medical management were retrospectively reviewed to identify potential predictors of greater difference between RBT and AT readings. Results A total of 123 eyes of 65 patients were included. In patients with normal IOP (≤24 mm Hg), 18.5% had a ≥6 mm Hg difference between RBT and AT, with RBT being higher. Risk factors for this included presence of persistent fetal vasculature (PFV), increased corneal diameter, and higher initial RBT value (>20). In patients with elevated IOP (>24 mm Hg), 77% had ≥6 mm Hg difference, with larger corneal diameter being the sole predictor. Eyes were less likely to have significant RBT-AT difference if there was corneal opacity or iris abnormalities in eyes with elevated IOP (>24 mm Hg). Conclusions In some children, RBT readings are ≥ 6 mm Hg higher than AT readings. Caution should be taken when interpreting RBT values in patients with PFV, increased corneal diameter, and higher initial RBT values.
- Published
- 2020
17. Microspherophakia with Novel Gene Mutations in a Young Girl.
- Author
-
Lian Z, Liu S, Jin G, and Zheng D
- Subjects
- Corneal Diseases, Female, Humans, Iris abnormalities, Mutation, Ectopia Lentis diagnosis, Ectopia Lentis genetics, Glaucoma
- Published
- 2022
- Full Text
- View/download PDF
18. Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome.
- Author
-
Babalola YO
- Subjects
- Humans, Male, Nigeria, Young Adult, Choroid abnormalities, Coloboma complications, Coloboma diagnosis, Iris abnormalities, Noonan Syndrome complications, Noonan Syndrome diagnosis, Retina abnormalities
- Abstract
A 19-year-old male undergraduate presented to the eye clinic with a history of poor vision in the left eye since childhood. The best-corrected visual acuity was 6/6 in the right eye and hand movement in the left eye respectively. Examination of the anterior segment of the right eye was essentially normal, whereas the anterior segment examination of the left eye revealed a small globe, microcornea, and an iris coloboma inferiorly at the 6 o'clock position. Binocular indirect ophthalmoscopy of the right eye revealed a pink disc, normal vessels and macula, lattice degeneration with retinal holes, and a flat retina. The left eye had a pink disc, normal macula and vessels with an inferior arc-shaped excavation with exposure of the sclera, which involved both the disc and macula and was in keeping with a retinochoroidal coloboma. Systemic examination revealed low-set ears with a left atrophic pinna, mild kyphoscoliosis, pectus excavatum, and an atrophic left lower limb with anomalies of the toes and talipes equinovarus. A pan-systolic murmur was present on cardiovascular examination., Competing Interests: None
- Published
- 2022
- Full Text
- View/download PDF
19. A systematic approach to the management of microspherophakia.
- Author
-
Venkataraman P, Haripriya A, Mohan N, and Rajendran A
- Subjects
- Corneal Diseases, Ectopia Lentis, Humans, Randomized Controlled Trials as Topic, Retrospective Studies, Visual Acuity, Glaucoma etiology, Iris abnormalities
- Abstract
Microspherophakia is a rare developmental abnormality of the crystalline lens with a myriad of ocular and systemic associations. Glaucoma is a serious complication associated with this disorder. Early identification of the disease, timely visual rehabilitation, and appropriate management of the lens and glaucoma can help us prevent blindness from this condition. Multidisciplinary care with lifelong follow-up is recommended, as this typically affects the younger population. Current treatment protocols for this condition are mainly based on case reports and retrospective studies with shorter follow-up. Due to the rarity of this disease, designing a large randomized controlled trial to identify the merits and demerits of each management strategy is challenging. With cataract, glaucoma, and vitreoretinal specialists, each having their preferred way of managing microspherophakic lenses, we decided to do a comprehensive review of the existing literature to devise an integrated approach toward effective management of these patients. This review will collate all evidence and provide a very practical decision-making tree for its management., Competing Interests: None
- Published
- 2022
- Full Text
- View/download PDF
20. Estimating the prevalence of heterochromia iridum from high-resolution digital yearbook portraits.
- Author
-
Dabkowski M, Case J, Kloo I, and Pickett J
- Subjects
- Humans, Prevalence, Iris abnormalities
- Published
- 2022
- Full Text
- View/download PDF
21. Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections
- Author
-
Ian M. MacDonald, Melissa J. MacPherson, and Deborah Modeste
- Subjects
Adult ,medicine.medical_specialty ,Aortic Aneurysm, Thoracic ,business.industry ,Iris ,medicine.disease ,Iris flocculi ,Actins ,Aortic Dissection ,Ophthalmology ,Aortic aneurysm ,Aneurysm ,Iris Diseases ,Iris abnormalities ,X ray computed ,medicine ,Humans ,Abnormalities, Multiple ,Radiology ,Tomography, X-Ray Computed ,business - Published
- 2021
22. Results of the United States Food and Drug Administration Clinical Trial of the CustomFlex Artificial Iris.
- Author
-
Ayres BD, Fant BS, Landis ZC, Miller KM, Stulting RD, Cionni RJ, Fram NR, Hamilton S, Hardten DR, Koch DD, Masket S, Price FW Jr, Rosenthal KJ, Hamill MB, and Snyder ME
- Subjects
- Humans, Lenses, Intraocular, Photophobia surgery, Prospective Studies, Quality of Life, United States, United States Food and Drug Administration, Iris abnormalities, Iris surgery, Lens Implantation, Intraocular methods
- Abstract
Purpose: To evaluate safety and efficacy of a custom-manufactured artificial iris device (CustomFlex Artificial Iris; HumanOptics AG) for the treatment of congenital and acquired iris defects., Design: Multicenter, prospective, unmasked, nonrandomized, interventional clinical trial., Participants: Patients with photophobia, sensitivity secondary to partial or complete congenital or acquired iris defects, or both., Methods: Eyes were implanted from November 26, 2013, to December 1, 2017, with a custom, foldable artificial iris by 1 of 4 different surgical techniques. Patients were evaluated 1 day, 1 week, and 1, 3, 6, and 12 months after surgery. At each examination, slit-lamp findings, intraocular pressure, implant position, subjective visual symptoms, and complications were recorded. Corrected distance visual acuity (CDVA) and endothelial cell density (ECD) were measured at 3, 6, or 12 months as additional safety evaluations. The 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) was used to assess health-related quality of life affected by vision. The Global Aesthetic Improvement Scale was used to assess cosmetic results., Main Outcome Measures: Photosensitivity, glare, visual symptoms, NEI VFQ-25 score, Global Aesthetic Improvement Scale rating, prosthesis-related adverse events, intraocular lens (IOL)-related adverse events, and surgery-related adverse events 12 months after surgery., Results: At the 12-month postoperative examination, a 59.7% reduction in marked to severe daytime light sensitivity (P < 0.0001), a 41.5% reduction in marked to severe nighttime light sensitivity (P < 0.0001), a 53.1% reduction in marked to severe daytime glare (P < 0.0001), and a 48.5% reduction in severe nighttime glare (P < 0.0001) were found. A 15.4-point improvement (P < 0.0001) in the NEI VFQ-25 total score was found, and 93.8% of patients reported an improvement in cosmesis as measured by the Global Aesthetic Improvement Scale 12 months after surgery. No loss of CDVA of > 2 lines related to the device was found. Median ECD loss was 5.3% at 6 months after surgery and 7.2% at 12 months after surgery., Conclusions: The artificial iris surpassed all key safety end points for adverse events related to the device, IOL, or implant surgery and met all key efficacy end points, including decreased light and glare sensitivity, improved health-related quality of life, and satisfaction with cosmesis. The device is safe and effective for the treatment of symptoms and an unacceptable cosmetic appearance created by congenital or acquired iris defects., (Copyright © 2022. Published by Elsevier Inc.)
- Published
- 2022
- Full Text
- View/download PDF
23. Free-floating iris cyst
- Author
-
A. Zubicoa Enériz, P. Plaza Ramos, M. Mozo Cuadrado, L. Tabuenca Del Barrio, and F.J. Gonzalvo Ibáñez
- Subjects
Ophthalmology ,medicine.medical_specialty ,Iris abnormalities ,Iris cyst ,business.industry ,medicine ,business ,Ophthalmologic Surgical Procedure ,Surgery - Published
- 2020
24. Membrane pupillaire persistante (membrane de Wachendorf)
- Author
-
H. Chan, Gobain Chan, Jean-François Korobelnik, Marie-Noëlle Delyfer, V. Coste, R. Bentata, Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- Subjects
0303 health sciences ,medicine.medical_specialty ,Persistent pupillary membrane ,business.industry ,medicine.disease ,LEHA ,03 medical and health sciences ,Ophthalmology ,0302 clinical medicine ,Membrane ,Text mining ,Iris abnormalities ,030221 ophthalmology & optometry ,medicine ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,business ,030304 developmental biology - Published
- 2019
25. Complicated microspherophakia in a paediatric patient.
- Author
-
Bari A, Asif MI, Anjum S, and Sinha R
- Subjects
- Child, Eye, Humans, Iris abnormalities, Ophthalmologic Surgical Procedures, Corneal Diseases complications, Corneal Diseases surgery, Ectopia Lentis complications, Ectopia Lentis diagnosis, Ectopia Lentis surgery, Glaucoma complications, Glaucoma surgery
- Abstract
Competing Interests: Competing interests: None declared.
- Published
- 2022
- Full Text
- View/download PDF
26. Pre- and Post-Surgical Microspherophakia Anterior-Segment OCT.
- Author
-
de Saint Sauveur G, Chapron T, and Caputo G
- Subjects
- Corneal Diseases, Humans, Iris abnormalities, Iris surgery, Tomography, Optical Coherence, Ectopia Lentis, Glaucoma diagnosis, Glaucoma surgery
- Published
- 2022
- Full Text
- View/download PDF
27. Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections.
- Author
-
MacDonald IM, Modeste D, and MacPherson MJ
- Subjects
- Actins metabolism, Adult, Aortic Dissection diagnosis, Aortic Dissection metabolism, Aortic Aneurysm, Thoracic diagnosis, Aortic Aneurysm, Thoracic metabolism, Humans, Iris diagnostic imaging, Iris Diseases diagnosis, Iris Diseases metabolism, Tomography, X-Ray Computed, Abnormalities, Multiple, Actins genetics, Aortic Dissection genetics, Aortic Aneurysm, Thoracic genetics, Iris abnormalities, Iris Diseases genetics
- Published
- 2021
- Full Text
- View/download PDF
28. Three Cases of Spontaneous Hyphaema
- Author
-
Paul B. Henrich, Peter Bauer, and Jörg Stürmer
- Subjects
Male ,medicine.medical_specialty ,Treatment outcome ,Visual impairment ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Iris abnormalities ,Spontaneous hyphaema ,medicine ,Humans ,Intraocular surgery ,Antihypertensive Agents ,Oral anticoagulation ,Aged ,business.industry ,Anticoagulants ,Middle Aged ,Hyphema ,Surgery ,Ophthalmology ,Treatment Outcome ,030221 ophthalmology & optometry ,Female ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Background Spontaneous anterior chamber bleeding is a rare event. We present three photodocumented cases treated in our clinic. History and Findings Three patients sought medical assistance in our clinic because of bleeding inside the eye and/or visual impairment. None of them had a history of trauma or intraocular surgery. Treatment and Outcome Two patients had oral anticoagulation, which was discontinued. These cases were treated with topical steroids. The third patient had no anticoagulation and no topical steroids were used in treatment. Topical intraocular pressure-lowering drugs were administered as needed. In all three cases, the anterior chamber bleeding stopped spontaneously. No intervention was required. Even after resolution of the bleeding, there were no signs of iris abnormalities. Conclusions In cases of spontaneous anterior chamber bleeding without a history of trauma, oral anticoagulation, hypertension and iris abnormalities such as microaneurysm, pseudoexfoliation, iridocyclitis or neovascularisation have to be considered.
- Published
- 2017
29. High Iris Insertion in Axenfeld-Rieger Syndrome
- Author
-
Erin A. Boese, John H. Fingert, and Douglas B. Critser
- Subjects
Adult ,Male ,medicine.medical_specialty ,medicine.medical_treatment ,Gonioscopy ,Iris ,Trabeculectomy ,Cornea ,Iris abnormalities ,Anterior Eye Segment ,Ophthalmology ,medicine ,Humans ,Eye Abnormalities ,Iris (anatomy) ,Intraocular Pressure ,medicine.diagnostic_test ,business.industry ,Hydrophthalmos ,Infant, Newborn ,Eye Diseases, Hereditary ,Axenfeld-Rieger syndrome ,medicine.anatomical_structure ,business ,Tomography, Optical Coherence - Published
- 2020
30. A rare presentation of bilateral dislocated lens in a patient with isolated microspherophakia
- Author
-
Thandra Sai Shreya, Vijayalakshmi A Senthilkumar, Chitaranjan Mishra, and R Krishnadas
- Subjects
medicine.medical_specialty ,Iris ,Ectopia Lentis ,Corneal Diseases ,dislocated lens ,lcsh:Ophthalmology ,Iris abnormalities ,secondary glaucoma ,Lens, Crystalline ,medicine ,Humans ,Ectopia lentis ,business.industry ,Secondary glaucoma ,Glaucoma ,Lens Subluxation ,medicine.disease ,Surgery ,Ophthalmology ,Microspherophakia ,medicine.anatomical_structure ,lcsh:RE1-994 ,Lens (anatomy) ,microspherophakia ,Presentation (obstetrics) ,business - Published
- 2020
31. Surgery-induced iris abnormalities after Descemet membrane endothelial keratoplasty and their impact on postoperative clinical outcomes [Letter]
- Author
-
Arjun Srirampur
- Subjects
Ophthalmology ,medicine.medical_specialty ,Iris abnormalities ,Descemet membrane ,business.industry ,Medicine ,business ,Surgery - Published
- 2019
32. Bilateral persistent pupillary membrane in an adult patient: A case report
- Author
-
H Elorch, Amina Berraho, S Mouine, A Kouisbahi, M Oudbib, K Amhoud, and F Ibrahimi
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Persistent pupillary membrane ,business.industry ,medicine.disease ,03 medical and health sciences ,Ophthalmology ,030104 developmental biology ,0302 clinical medicine ,Text mining ,Iris abnormalities ,Medicine ,business ,030217 neurology & neurosurgery - Published
- 2018
33. Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review.
- Author
-
Xu M, Li K, and He W
- Subjects
- Adolescent, Humans, Male, Asian People genetics, Corneal Diseases, Iris abnormalities, Mutation, Pedigree, Ectopia Lentis genetics, Glaucoma genetics, Glaucoma surgery, Heterozygote, Latent TGF-beta Binding Proteins genetics
- Abstract
Background: Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-beta (TGF-beta) binding proteins(LTBP2) gene mutation is the predominant cause of MSP. In our study, novel compound heterozygous mutations in the LTBP2 gene associated with MSP were reported, which was different from previous reported homozygous mutations., Case Presentation: The proband was an 18-year-old male in Western China with bilateral MSP, accompanied by ectopia lentis, secondary glaucoma and blindness in both eyes. In our hospital, he received bilateral lens resection and trabeculectomy combined with peripheral iridotomy. Using next-generation sequencing (NGS)-based gene panel tests, we identified pathogenic mutations in the peripheral blood DNA sample from the proband: c.3614_3618dupCTGGC (exon24, NM_000428) and c.2819G > A (exon18, NM_000428). The presence of the novel compound heterozygous mutations in the LTBP2 gene was linked with the development of MSP. Sanger sequencing confirmed the existence of one of the two variants in each parent respectively., Conclusion: Our results demonstrated a rare case of MSP phenotype associated with novel compound heterozygous mutations in the LTBP2 gene using NGS technology., (© 2021. The Author(s).)
- Published
- 2021
- Full Text
- View/download PDF
34. Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.
- Author
-
Bacci GM, Polizzi S, Mari F, Conti V, Caputo R, and Guerrini R
- Subjects
- Abnormalities, Multiple, Child, Preschool, Coloboma diagnosis, DNA genetics, DNA Mutational Analysis, Female, Humans, Iris diagnostic imaging, Male, Mutation, Retina diagnostic imaging, Tuberous Sclerosis diagnosis, Tuberous Sclerosis genetics, Tuberous Sclerosis Complex 2 Protein genetics, Tuberous Sclerosis Complex 2 Protein metabolism, Coloboma etiology, Fovea Centralis diagnostic imaging, Iris abnormalities, Retina abnormalities, Tomography, Optical Coherence methods, Tuberous Sclerosis complications, Visual Acuity
- Abstract
Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis., Competing Interests: The authors report no conflicts of interest., (Copyright © 2020 by North American Neuro-Ophthalmology Society.)
- Published
- 2021
- Full Text
- View/download PDF
35. Long-term outcomes of "open iridectomy" for secondary anterior chamber epithelial iris cysts.
- Author
-
Lan J, Liu T, Huang Y, Pan X, Wei Y, Xie P, Kong Q, Guo X, and Xie L
- Subjects
- Adolescent, Adult, Aftercare, Anterior Chamber surgery, Child, Child, Preschool, Eye Diseases, Hereditary etiology, Eye Diseases, Hereditary pathology, Eye Injuries, Penetrating complications, Female, Follow-Up Studies, Humans, Iris pathology, Iris surgery, Male, Middle Aged, Pigment Epithelium of Eye pathology, Pigment Epithelium of Eye surgery, Recurrence, Retrospective Studies, Treatment Outcome, Young Adult, Eye Diseases, Hereditary surgery, Iridectomy methods, Iris abnormalities, Pigment Epithelium of Eye abnormalities
- Abstract
Epithelial cysts run a high risk of recurrence and conversion to sheet-like ingrowth after surgical intervention. In this retrospective study, we introduced a modified iridectomy for treatment of secondary epithelial iris cysts (EICs) in the anterior chamber. Twenty-nine patients (29 eyes) aged 2-61 years received "open iridectomy" for EICs between April 1995 and July 2019. After viscodissection, most of the cyst wall was cut using a 20-gauge aspiration cutter via a 2.5-mm clear corneal incision. The residue closely adhering to the iris stroma was remained to avoid photophobia and diplopia. At 3 months, best corrected visual acuity was ≥ 20/100 in 55.5% (15/27, except two pediatric patients with poor cooperation) of patients. Among the eight patients suffering partial corneal edema preoperatively, six patients received surgery treatment at 3-6.5 months, and the cornea in the other two patients became transparent after medication. In a mean follow-up of 47.4 months, recurrence occurred in 3 patients at 7, 37, and 118 months, respectively. The percentage of treatment success was 96%, 87%, and 65% at 1, 5, and 10 years, respectively. "Open iridectomy" was effective for EICs, with a minimal invasion, less damage to the corneal endothelium, and a low recurrence rate., (© 2021. The Author(s).)
- Published
- 2021
- Full Text
- View/download PDF
36. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH .
- Author
-
Van Hoorde T, Nerinckx F, Kreps E, Roels D, Huyghe P, Van Heetvelde M, Verdin H, De Baere E, Balikova I, and Leroy BP
- Subjects
- Adolescent, Cataract Extraction, Consanguinity, Craniofacial Abnormalities diagnosis, Craniofacial Abnormalities physiopathology, Craniofacial Abnormalities surgery, Ectopia Lentis diagnosis, Ectopia Lentis physiopathology, Ectopia Lentis surgery, Female, Humans, Iris physiopathology, Iris surgery, Male, Siblings, Slit Lamp Microscopy, Visual Acuity physiology, Exome Sequencing, Young Adult, Calcium-Binding Proteins genetics, Codon, Nonsense genetics, Craniofacial Abnormalities genetics, Ectopia Lentis genetics, Exons genetics, Iris abnormalities, Membrane Proteins genetics, Mixed Function Oxygenases genetics, Muscle Proteins genetics
- Abstract
Background: Traboulsi syndrome is a very rare, syndromic form of ectopia lentis that is potentially sight-threatening at a young age. It is characterized by typical facial, skeletal and ocular signs., Materials and Methods: Two siblings, born to consanguineous parents, with a clinical phenotype consistent with Traboulsi syndrome, underwent extensive ophthalmic imaging and exome-based genetic testing. Both were treated with unilateral clear lens extraction via a limbal approach., Results: Two siblings, one male and one female, presented with systemic and ocular features consistent with Traboulsi syndrome. Lens subluxation was present in all 4fouraffected eyes, and spontaneous subconjunctival bleb formation was detected in one eye. This eye also showed evidence of keratoconus-related corneal thinning. The clinical diagnosis of Traboulsi syndrome was confirmed molecularly. A homozygous, novel, pathogenic nonsense variant was identified in exon 25 of the ASPH gene: c.2181_2183dup, p.(Val727_Trp728insTer). Excellent visual outcomes following clear lens extraction and postoperative rigid gas-permeable contact lens fitting were obtained., Conclusions: We expanded the genetic spectrum of Traboulsi syndrome with a novel frameshift variant in the ASPH gene. We showed that lensectomy followed by gas-permeable contact lenses is an efficient therapeutic approach to treat lens subluxation in Traboulsi syndrome. However, lifelong follow-up is crucial to avoid (late) postoperative complications.
- Published
- 2021
- Full Text
- View/download PDF
37. Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.
- Author
-
Madhangi M, Dutta D, Show S, Bhat VK, Rather MI, Tiwari A, Singh N, Duvvari MR, Murthy GJ, Kumar A, and Nongthomba U
- Subjects
- Adult, Animals, Child, Corneal Diseases etiology, Corneal Diseases metabolism, Ectopia Lentis etiology, Ectopia Lentis metabolism, Female, Glaucoma etiology, Glaucoma metabolism, HeLa Cells, Humans, India, Iris metabolism, Iris pathology, Male, Pedigree, Proteins metabolism, Young Adult, Zebrafish, Corneal Diseases pathology, Ectopia Lentis pathology, Exome, Glaucoma pathology, Iris abnormalities, Mutation, Proteins genetics, Exome Sequencing methods
- Abstract
Isolated Microspherophakia (MSP) is an autosomal recessive disorder characterized by a smaller than normal spherical lens. Till date, LTBP2 is the only gene shown to cause MSP. We used homozygosity mapping and whole-exome sequencing and identified a homozygous mutation, c.1148C > T (p.Pro383Leu), in the WDR8 (or WRAP73) gene in two Indian MSP families. In vitro experiments showed that the missense mutation renders the protein unstable. WDR8 is a centriolar protein that has important roles in centrosomal assembly, spindle pole formation and ciliogenesis. Co-immunoprecipitation experiments from HeLa cells indicated that the mutation interferes with the interaction of WDR8 with its binding partners. In zebrafish, both morpholino-mediated knockdown and CRISPR/Cas knockout of wdr8 resulted in decreased eye and lens size. The lack of wdr8 affected cell cycle progression in the retinal cells, causing a reduction in cell numbers in the retina and lens. The reduction in eye size and the cell cycle defects were rescued by exogenous expression of the human wild-type WDR8. However, the human mutant WDR8 (p.Pro383Leu) was unable to rescue the eye defects, indicating that the missense mutation abrogates WDR8 protein function. Thus, our zebrafish results suggested that WDR8 is the causative gene for MSP in these Indian families., (© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
- Published
- 2021
- Full Text
- View/download PDF
38. Congenital Microcoria.
- Author
-
Jeeva-Patel T, Lutchman C, and Margolin E
- Subjects
- Female, Humans, Microscopy, Acoustic, Muscle, Smooth diagnostic imaging, Pupil Disorders diagnosis, Young Adult, Iris abnormalities, Pupil Disorders congenital
- Published
- 2021
- Full Text
- View/download PDF
39. Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas
- Author
-
Fowzan S. Alkuraya, Arif O. Khan, and Mohammed A. Aldahmesh
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Intraocular pressure ,genetic structures ,Iris ,Glaucoma ,030105 genetics & heredity ,Tonometry, Ocular ,03 medical and health sciences ,0302 clinical medicine ,Iris abnormalities ,Ophthalmology ,medicine ,Humans ,Iris (anatomy) ,Child ,Intraocular Pressure ,Corneal Dystrophies, Hereditary ,Corneal Haze ,Young child ,business.industry ,medicine.disease ,eye diseases ,Coloboma ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,030221 ophthalmology & optometry ,sense organs ,Congenital hereditary endothelial dystrophy ,business ,Corneal disease - Abstract
Corneal haze and elevated measured intraocular pressure in a young child with iris abnormalities are suggestive for glaucoma, but primary corneal disease is another possibility. We highlight the case of a 10-year-old boy with these clinical signs who was initially treated for glaucoma but in fact had congenital hereditary endothelial dystrophy, iris colobomas, and no glaucoma.
- Published
- 2016
40. Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome
- Author
-
Andrea Zin, Albert I. Ko, Mauricio Maia, Camila V. Ventura, Bruno de Paula Freitas, and Rubens Belfort
- Subjects
Male ,Pathology ,medicine.medical_specialty ,MEDLINE ,Eye Infections, Viral ,Iris ,Real-Time Polymerase Chain Reaction ,Microphthalmia ,Cataract ,03 medical and health sciences ,0302 clinical medicine ,Viral genetics ,Iris abnormalities ,Anterior Eye Segment ,Pregnancy ,030225 pediatrics ,Medicine ,Humans ,Microphthalmos ,Pregnancy Complications, Infectious ,business.industry ,Zika Virus Infection ,Infant, Newborn ,Infant ,Zika Virus ,Eye infection ,medicine.disease ,Coloboma ,Ophthalmology ,Real-time polymerase chain reaction ,Multicenter study ,DNA, Viral ,030221 ophthalmology & optometry ,Female ,business - Published
- 2017
41. Ectopia Lentis with Microspherophakia in Marfan Syndrome Resolved with Mydriasis
- Author
-
Georgios Bontzos, Athanassios Giarmoukakis, and Miltiadis K. Tsilimbaris
- Subjects
Marfan syndrome ,Adult ,Male ,medicine.medical_specialty ,Mydriatics ,Iris ,Administration, Ophthalmic ,Ectopia Lentis ,Corneal Diseases ,Marfan Syndrome ,03 medical and health sciences ,0302 clinical medicine ,Iris abnormalities ,Ophthalmology ,medicine ,Mydriasis ,Humans ,Ectopia lentis ,business.industry ,Glaucoma ,Pupil ,medicine.disease ,Ophthalmic solutions ,Microspherophakia ,030221 ophthalmology & optometry ,medicine.symptom ,Ophthalmic Solutions ,business ,030217 neurology & neurosurgery - Published
- 2017
42. A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature
- Author
-
Federica Isidori, Marco Seri, Giulia Severi, Elena Gusson, Claudio Graziano, Cesare Rossi, Anita Wischmeijer, Milena Brugnara, Graziano, Claudio, Gusson, Elena, Severi, Giulia, Isidori, Federica, Wischmeijer, Anita, Brugnara, Milena, Seri, Marco, and Rossi, Cesare
- Subjects
0301 basic medicine ,Genetics ,child ,Coloboma ,Pathology ,medicine.medical_specialty ,business.industry ,PUF 60 de novo mutation: coloboma ,030105 genetics & heredity ,medicine.disease ,persistent fetal vasculature ,PUF60 ,03 medical and health sciences ,Ophthalmology ,Iris abnormalities ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Medicine ,Missense mutation ,business ,Persistent fetal vasculature ,Rare disease ,Genetics (clinical) - Abstract
We performed whole exome sequencing (WES) in a patient with a clinical diagnosis of possible CHARGE syndrome, where CHD7 analysis and array CGH did not identify any pathogenic variant. The boy presented prenatal and postnatal growth retardation, bilateral coloboma, a complex heart defect, hemivertebrae, monolateral renal agenesis and dysmorphic features. WES analysis identified a de novo c.532G>A mutation leading to pGlu178Lys change in PUF60, a gene predicted to be involved in some of the clinical aspects of 8q24.3 microdeletion syndrome. In this regard, rare copy number variants (CNVs) encompassing PUF60 and a single de novo missense variant in this gene were previously described. Patients showed a similar phenotype and manipulation of zebrafish attributed to PUF60 haploinsufficiency a fraction of clinical features, while coloboma and kidney anomalies were thought to be caused by haploinsufficiency of the neighboring SCRIB gene. Our results indicate that mutations in PUF60 may be fully responsible of this clinical entity, which shows a significant overlap with CHARGE syndrome.
- Published
- 2017
43. Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report
- Author
-
Özelce,Ramazan, Gürlü,Vuslat, Güçlü,Hande, and Özal,Sadık Altan
- Subjects
Coloboma ,genetic structures ,sense organs ,Iris abnormalities ,Eye abnormalities ,Lens, crystalline abnormalities ,Choroid abnormalities ,Optic nerve abnormalities ,eye diseases - Abstract
A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.
- Published
- 2016
44. Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report
- Author
-
Özelce, Ramazan, Gürlü, Vuslat, Güçlü, Hande, and Özal, Sadık Altan
- Subjects
genetic structures ,Íris/anormalidades ,Coroide/anormalidades ,Lens, crystalline abnormalities ,Choroid abnormalities ,Optic nerve abnormalities ,eye diseases ,Coloboma ,Cristalino/anormalidades ,Nervo óptico/anormalidades ,sense organs ,Iris abnormalities ,Eye abnormalities ,Anormalidades do olho - Abstract
A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit. RESUMO Uma mulher de 42 anos de idade foi internada em nossa clínica com queixa de ofuscamento em ambos os olhos. O exame biomicroscópico revelou coloboma de íris e cristalino no quadrante inferior em ambos os olhos. O exame de fundo do olho direito revelou um fosseta óptica oval e acinzentada na região inferotemporal e dois colobomas coroide no quadrante inferior. No olho esquerdo, dois colobomas de coroide foram detectados inferiormente à da cabeça do nervo óptico. Outro homem de 21 anos apresentou-se em nossa clínica para um exame oftalmológico de rotina. O exame biomicroscópico foi normal, bilateralmente. O exame de fundo do olho esquerdo revelou uma fosseta oval e acinzentada de nervo óptico óptico inferotemporal e um coloboma coroide inferior à cabeça do nervo óptico. Nestes relatos nós descrevemos fossetas ópticas ocorrendo simultaneamente com colobomas de íris, cristalino, e coroide. Com base nestes casos, o defeito no fechamento da fissura embrionária é uma provável etiologia da fosseta óptica.
- Published
- 2016
45. Axenfeld-Rieger syndrome
- Author
-
Amina Berraho, H. Chokrani, and W. Bengarai
- Subjects
medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Ectropion ,Iris ,Eye Diseases, Hereditary ,Glaucoma ,Trabeculectomy ,Axenfeld-Rieger syndrome ,Cataract ,Morocco ,Ophthalmology ,Iris abnormalities ,Anterior Eye Segment ,Glaucoma surgery ,Humans ,Medicine ,Abnormalities, Multiple ,Female ,Eye Abnormalities ,Child ,business - Published
- 2018
46. Synéchies irido-cristalliniennes bilatérales « en tête de mickey »
- Author
-
Ibtissam Hajji, K Hassaki, Abdeljalil Moutaouakil, and N. Bouslous
- Subjects
Cartoons as Topic ,Eye abnormality ,Ophthalmology ,medicine.medical_specialty ,medicine.anatomical_structure ,Iris Diseases ,Iris abnormalities ,business.industry ,Medicine ,Iris (anatomy) ,business - Published
- 2018
47. Membrane pupillaire persistante
- Author
-
T David, Y Troumani, and L. Beral
- Subjects
Ophthalmology ,medicine.medical_specialty ,Text mining ,Persistent pupillary membrane ,Iris abnormalities ,business.industry ,Medicine ,business ,medicine.disease ,Pupil - Published
- 2018
48. Atypical superior iris and retinochoroidal coloboma
- Author
-
George J Manayath, Ratnesh Ranjan, and Arvind M Jain
- Subjects
0301 basic medicine ,Adult ,medicine.medical_specialty ,Iris ,03 medical and health sciences ,0302 clinical medicine ,Iris abnormalities ,lcsh:Ophthalmology ,Ophthalmology ,Medicine ,Humans ,Bone morphogenetic protein receptor ,Iris (anatomy) ,Bone Morphogenetic Protein Receptors, Type I ,business.industry ,Choroid ,Coloboma ,030104 developmental biology ,medicine.anatomical_structure ,lcsh:RE1-994 ,Mutation (genetic algorithm) ,Mutation ,030221 ophthalmology & optometry ,Female ,Retinochoroidal coloboma ,business ,Ophthalmic Image - Published
- 2018
49. Lens Dislocation, Facial Dysmorphism, and Spontaneous Blebs
- Author
-
Helen H Yeung
- Subjects
Adolescent ,DNA Mutational Analysis ,Iris ,Muscle Proteins ,Ectopia Lentis ,Mixed Function Oxygenases ,Craniofacial Abnormalities ,Diagnosis, Differential ,Facial dysmorphism ,Dna genetics ,Iris abnormalities ,Humans ,Medicine ,business.industry ,Calcium-Binding Proteins ,Membrane Proteins ,DNA ,General Medicine ,Anatomy ,Ophthalmology ,medicine.anatomical_structure ,Lens (anatomy) ,Mutation ,Pediatrics, Perinatology and Child Health ,Female ,Dislocation ,business - Published
- 2019
50. Isolated microspherophakia with retinitis pigmentosa
- Author
-
Parul Chawla Gupta, Gaurav Gupta, Jagat Ram, Anchal Thakur, and Bala Murugan
- Subjects
Adult ,medicine.medical_specialty ,Iris ,Ectopia Lentis ,Photo Essay ,Corneal Diseases ,Diagnosis, Differential ,lcsh:Ophthalmology ,Iris abnormalities ,Anterior Eye Segment ,Microspherophakia ,retinitis pigmentosa ,Ophthalmology ,Retinitis pigmentosa ,Electroretinography ,medicine ,Humans ,medicine.diagnostic_test ,business.industry ,Spherophakia ,Glaucoma ,medicine.disease ,lcsh:RE1-994 ,Female ,spherophakia ,business ,Tomography, Optical Coherence - Published
- 2019
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.