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Purpose: To highlight spontaneous resolution or improvement of myopic retinoschisis (MR) in actively surveilled patients. Methods: Case series of five patients diagnosed with MR who did not undergo pars plana vitrectomy and were carefully monitored by a single retina specialist. Ocular and medical history were reviewed, and clinical characteristics including visual acuity and the status of the MR were monitored with spectral domain optical coherence tomography (SDOCT) at each clinic visit. Results: Five patients were identified to have MR without vitreomacular traction, or macular hole formation. Two patients exhibited spontaneous and complete resolution of MR without surgical intervention over an average observation time of 52.5 months. In these cases, a clinical posterior vitreous detachment was documented preceding the resolution of MR over an average time of 26.5 months. Snellen best-corrected visual acuity in these patients improved (Case 1 from 20/50 to 20/40, Case 2 from 20/30 to 20/25). The remaining three patients were monitored for an average of 52 months and showed improvement of MR via OCT imaging. Snellen best-corrected visual acuity either remained stable or improved from baseline (Case 3 stable at 20/30, Case 4 improved from 20/40 to 20/30, and Case 5 stable at 20/20). Conclusion: These findings suggest that conservative management of MR with observation can be considered especially in patients with challenging comorbidities (such as monocular status), and with a clinically identified posterior vitreous detachment without vitreomacular traction. [ABSTRACT FROM AUTHOR]

Purpose: To assess the retinal modifications after cataract surgery in a patient presenting with stellate nonhereditary idiopathic foveomacular retinoschisis. Methods: Retrospective analysis of the evolution of retinal status in a 64-year-old patient with unilateral stellate nonhereditary idiopathic foveomacular retinoschisis who underwent cataract surgery in the affected eye. Results: Visual acuity improved after surgery, reaching back the level described by the patient before the cataract onset, whereas fundus retinographies and optical coherence tomographies were stable at one month after surgery, compared with the preoperative images. Discussion: This first case-report of the evolution of stellate nonhereditary idiopathic foveomacular retinoschisis after cataract surgery suggests that this retinal condition is not modified by the surgical procedure, which however needs to confirmed by larger cohorts. [ABSTRACT FROM AUTHOR]

Abstract Purpose: To report a case of a rare disease entity Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS) in a 47-year-old female with a brief review of literature. Case Report: A 47-year-old woman presented with a history of defective vision with an associated difficulty in night vision. Clinical workup was done, which included a thorough ocular examination showing diffuse pigmentary mottling of fundus, ocular biometry showing short axial length with normal anterior segment dimensions, electroretinography showing extinguished response, optical coherence tomography showing foveoschisis, and ultrasonography showing thickened sclera–choroidal complex. Findings were consistent with those reported by other authors with PMPRS. Conclusion: Posterior microphthalmia with or without other ocular and systemic associations should be suspected in cases with high hyperopia. It is mandatory to carefully examine the patient at presentation and close follow-ups are needed to maintain visual function.

To present a case of anatomical success and visual improvement after the treatment of a long-standing foveal retinal detachment in a staphylomatous myopic eye with foveoschisis and macular hole. A 60-year-old woman with high myopia presented with foveoschisis and a lamellar macular hole in her right eye. After 2 years of follow-up without deterioration, her eye developed a full-thickness macular hole and a foveal retinal detachment which caused a severe reduction in visual acuity. However, the patient had no surgical treatment for her condition at that time. Vitrectomy was performed 2 years after the retinal detachment formation. Regardless of the longstanding detachment, anatomical success, and visual improvement were evident after the surgery. Despite a 2-year longstanding foveal detachment on a highly myopic eye with foveoschisis and macular hole, surgical repair could still be satisfactory.

Purpose: The purpose of this study is to investigate the clinical and morphological characteristics of epiretinal membrane (ERM)-Foveoschisis. Methods: Medical charts of 2088 patients diagnosed with idiopathic ERM were screened and eyes with ERM-Foveoschisis were included. All eyes underwent a complete ophthalmological examination including spectral domain optical coherence tomography (SD-OCT). OCT features and best corrected visual acuity (BCVA) were analysed. ERM-Foveoschisis was defined as open, closed, elevated or flat based on the OCT features. Ellipsoidal zone (EZ) abnormality, intraretinal cystoid spaces, central foveal thickness (CFT), posterior vitreous detachment (PVD) and lens status were assessed. Results: One hundred-sixty-six patients (175 eyes) (72% female, mean age 70.46 years) were included. Incidence of ERM-Foveoschisis was 6.7%. Open type was seen in 86.8% and had a significantly better mean BCVA than closed type (p = 0.01). No statistically significant difference of mean BCVA was noted between the elevated and flat types. Mean BCVA was significantly lower in eyes with EZ abnormality (p = 0.03) and eyes with intraretinal cystoid spaces (p = 0.02). Patients with 'closed' ERM-Foveoschisis showed a significant higher median CFT than 'open' ERM-Foveoschisis (respectively, 364 µm and 176 µm, p < 0.001). A total of 81.9% eyes had PVD. Conclusion: We differentiated four morphological types of ERM-Foveoschisis based on the OCT examination. Closed ERM-Foveoschisis presented with a higher CFT and lower BCVA than the open type. ERM-Foveoschisis with cystoid intraretinal spaces presented with a lower BCVA. The impact of the morphological types of the ERM-Foveoschisis on the clinical course and for therapy decision requires further long-term studies. [ABSTRACT FROM AUTHOR]

Purpose: To report a case of a rare disease entity Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS) in a 47-year-old female with a brief review of literature. Case Report: A 47-year-old woman presented with a history of defective vision with an associated difficulty in night vision. Clinical workup was done, which included a thorough ocular examination showing diffuse pigmentary mottling of fundus, ocular biometry showing short axial length with normal anterior segment dimensions, electroretinography showing extinguished response, optical coherence tomography showing foveoschisis, and ultrasonography showing thickened sclera-choroidal complex. Findings were consistent with those reported by other authors with PMPRS. Conclusion: Posterior microphthalmia with or without other ocular and systemic associations should be suspected in cases with high hyperopia. It is mandatory to carefully examine the patient at presentation and close follow-ups are needed to maintain visual function. [ABSTRACT FROM AUTHOR]

BackgroundTo assess the functional and structural outcomes of macular buckling using a silicone sponge-titanium exoplant for the treatment of foveoschisis (FS) and full-thickness macular holes (FTMHs) in highly myopic eyes.MethodsForty-nine consecutive patients with high myopia who underwent macular buckling for the treatment of FS and FTMHs were included. The outcomes measured included the anatomical success rate with FS resolution, retinal reattachment, MH closure, best corrected visual acuity (BCVA), axial length (AL) and complications of surgery. Moreover, the correlations between the BCVA at year three and series of factors, including age, duration of symptoms, baseline BCVA, AL, surgical type, preoperative macular status and severity of myopic maculopathy, were analysed.ResultsThis study involved 28 patients (28 eyes) with FS and 21 patients (21 eyes) with FTMHs with macular detachment. Retinal reattachment was achieved in 100% of cases, while MH closure was achieved in 76.19% of cases. The BCVA significantly improved one year after macular buckling in the FS cases and two years after macular buckling in the FTMH cases, and it remained stable throughout the rest of the follow-up period. The mean AL decreased by 2.09 mm postoperatively. No major perioperative complications were observed, although one patient needed to explant the buckling device due to intolerable diplopia.ConclusionMacular buckling with a silicone sponge-titanium exoplant may represent a safe and effective surgical option for the treatment of FS and FTMH in highly myopic eyes. Macular buckling showed a high closure rate and virtually no tendency to recur.

To present a case of anatomical success and visual improvement after the treatment of a long-standing foveal retinal detachment in a staphylomatous myopic eye with foveoschisis and macular hole. A 60-year-old woman with high myopia presented with foveoschisis and a lamellar macular hole in her right eye. After 2 years of follow-up without deterioration, her eye developed a full-thickness macular hole and a foveal retinal detachment which caused a severe reduction in visual acuity. However, the patient had no surgical treatment for her condition at that time. Vitrectomy was performed 2 years after the retinal detachment formation. Regardless of the longstanding detachment, anatomical success, and visual improvement were evident after the surgery. Despite a 2-year longstanding foveal detachment on a highly myopic eye with foveoschisis and macular hole, surgical repair could still be satisfactory. [ABSTRACT FROM AUTHOR]

Myopic traction maculopathy (MTM), one of the complications of pathologic myopia, is a spectrum of pathological conditions that are attributed to tractional changes in the eye characterized by retinoschisis, lamellar or full thickness macular hole, and foveal retinal detachment. Considering the global public health burden of MTM and pathologic myopia, it is important to understand these sight-threatening complications and their associations. We conducted an evidence-based review of the prevalence and natural history of MTM and associated risk factors. The prevalence of MTM in the general population is low, but is increased among high myopes. MTM is associated with preretinal tractional structures, myopic refractive error and axial elongation, posterior staphyloma, dome-shaped macula, chorioretinal atrophy, and myopic macular degeneration. The clinical course of MTM tends to be stable; however, MTM may progress, resulting in visual acuity deterioration, although spontaneous improvement also occurs. The associations of MTM progression include vitreous traction, location, and extent of MTM, and lamellar macular hole-specific factors. More high-quality population-based studies that assess MTM prevalence and natural history are needed. [ABSTRACT FROM AUTHOR]

Background: Myopic traction maculopathy [MTM] complicating high myopia is a spectrum of diseases involving damage of the macula resulting from traction leading to inner or outer retinoschisis, macular detachment, lamellar macular hole, full-thickness macular hole [FTMH] or even retinal detachment.Aim of the work: To compare the role of vitrectomy with total internal limiting membrane peeling [TILMP] versus fovea sparing internal limiting membrane peeling [FSILMP] for MTM.Patients and Methods: The study was conducted on eighteen eyes with MTM. Preoperatively, best corrected visual acuity [BCVA] converted into logMAR and optical coherence tomography [OCT] were done. Nine patients were surgically treated with total ILM peeling and nine patients were surgically treated with fovea sparing ILM peeling. Six months postoperatively, the patients were examined for BCVA in logMAR. Also, OCT was done 6 months postoperatively.Results: The difference between the two groups was no significant statistically according to their BCVA preoperatively and postoperatively with a p-value >0.05 NS, while there was a statistically significant reduction BCVA postoperatively compared to preoperative in TILMP Group and FSILMP group with p-value

To report a novel CRB1 variant responsible for autosomal recessive foveal retinoschisis and its associated clinical and electrophysiological data. A case report. A 15-year-old boy has foveal retinoschisis similar to those seen in X-linked retinoschisis (XLRS). During follow-up, we observed the co-existence of foveoschitic changes and parafoveal macular atrophy. Molecular genetic testing identified compound heterozygous variants in the CRB1 gene, including a novel variant, c.3878 G > A, predicted to disrupt the normal translation of CRB1 and a previously reported likely pathogenic mutation, c.498_506del. Full-field electroretinograms (ERG) were normal but multifocal ERG showed focal reduced waveform amplitude corresponding to the area of atrophy. A novel missense variant existing in a compound heterozygous state was identified. Biallelic CRB1 mutations can cause anatomical fovea disruption similar to XLRS but have very different electroretinogram findings. This case report enhances our understanding of the spectrum of biallelic CRB1 mutations. [ABSTRACT FROM AUTHOR]

Abstract Background To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy. Case presentation A 6-year-old Chinese girl complained about night blindness and progressive decreased vision in both eyes. Her best corrected visual acuity (BCVA) was 20/63 OD and 20/100 OS. Fundus examination showed bilateral multiple, sharply demarcated, scallop-shaped chorioretinal atrophy areas in the midperipheral and peripheral of the fundus. Spectral domain optical coherence tomography (SD-OCT) showed increased central macular thickness (CMT) with multiple intraretinal cystic spaces in the both eyes. There was no leakage or staining in the macular area in late phase of fluorescein angiography (FA). Blood tests confirmed hyperornithinemia and genetic analysis revealed two heterozygous mutations on ornithine aminotransferase (OAT) gene. Based on clinical presentation and genetic test, the patient was diagnosed as GA of the choroid and retina and further treated with vitamin B6 supplementary for three weeks. Her serum ornithine levels did not change but CMT on SD-OCT declined with partial regression of intraretinal cystic spaces. Then, the patient discontinued the drug because of severe muscle pain, and foveoschisis increased to initial level a month later. Conclusions Foveoschisis is a rare complication of GA. Vitamin B6 supplementation may alleviate foveoschisis, but its effort for reducing serum ornithine level might be limited. Potential drug adverse effects should be noted in pediatric patients.

Pedro Manuel Baptista,1 Nisa Silva,1 João Coelho,1 Diana José,1 Daniel Almeida,1 Angelina Meireles1,2 1Ophthalmology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal; 2Instituto de Ciências Biomédicas Abel Salazar, Porto, PortugalCorrespondence: Pedro Manuel BaptistaCentro Hospitalar Universitário do Porto, Largo Prof. Abel Salazar, Porto 4099-001, PortugalTel +351 917868372Email pedroyybaptista@gmail.comPurpose: To characterize a population of high myopes with myopic traction maculopathy (MTM), to assess their retinal function, and to correlate it with anatomic status.Patients and Methods: This was an observational cross-sectional study including 50 eyes from 27 patients. Demographic and clinical data were analyzed. Macular structure was assessed with spectral domain optical coherence tomography (SD-OCT, Heidelberg®) and macular function was studied with Microperimeter MP-3, NIDEK®.Results: The average for central foveal thickness (CFT) and choroid thickness (CT) was 213± 151 μm and 36± 23 μm, respectively, in a total of 50 eyes from 27 patients. In the microperimetry analysis, the average sensitivity on the foveal-centered 12º polygon (CPS) was 14.37± 9.1 dB. CT was negatively associated with the bivariate contour ellipse areas (BCEA) 1 (r=− 0.314; p=0.034), 2 (r=− 0.314; p=0.034), and 3 (r=− 0.316; p=0.033). CPS had a strong positive correlation with best-corrected visual acuity (BCVA) (r=0.661; p=0.000). We found a trend to worse microperimetric results in eyes with schisis (n=19) (p> 0.05) but eyes with atrophic areas (n=33) presented significant inferior CPS (p< 0.001). The presence of staphyloma showed significant impact on macular sensitivities in eyes with areas of macular atrophy/fibrosis (p< 0.05).Conclusion: Macular microperimetry analysis can have a role as part of a multimodal anatomo-functional assessment for a more precise characterization of the high myopic patients with MTM, optimizing medical and surgical decisions.Keywords: foveoschisis, high myopia, microperimetry, myopic traction maculopathy, retinal atrophy, staphyloma

Introduction: Goldmann Favre Syndrome (GFS) is a vitreoretinal degenerative disease with macular retinoschisis. The current treatment of foveoschisis is topical and oral carbonic anhydrase inhibitors. Case: A 22-year-old male diagnosed with GFS presented a progressive decrease in vision of the right eye. The optical coherence tomography showed a significant macular schisis. A medical treatment with topical and oral carbonic anhydrase inhibitors was ineffective. We performed a pars plana vitrectomy and silicone oil placement which led to an improvement of the visual acuity and a reduction of the foveoschisis. Conclusion: We describe here the first case of surgical treatment for macular schisis in a patient with GFS. [ABSTRACT FROM AUTHOR]

Purpose: To describe the retinal and vitreous changes in eyes showing myopic macular schisis (MMS) improvement when vitrectomy was not performed and identify triggering factors., Design: Retrospective observational study., Subjects: Patients with nonoperated MMS., Methods: The records of patients with MMS who were followed without performing surgery for >6 months were retrospectively reviewed, and the eyes showing an anatomic improvement were included. Myopic macular schisis evolution was analyzed quantitatively (central foveal thickness [CFT], parafoveal thickness, maximum height) and qualitatively (presence/absence of foveal detachment, lamellar hole, epiretinal membrane, choroidal neovascularization, inner and outer retinoschisis, vitreous status) at baseline and at the final visit. An anatomic improvement was defined as a decrease in CFT by ≥50 μm., Main Outcome Measures: The rate of anatomic improvement of MMS without performing vitrectomy and the morphological changes observed in these cases., Results: In a cohort of 74 nonoperated eyes with MMS, MMS improved in 14 eyes (19%) after a mean follow-up of 55 ± 38 months (range, 8-138). In these improved cases, the mean decrease in CFT was 153 ± 166 μm (range, 24-635; P = 0.005) and a complete resolution of MMS was observed in 9 eyes (64%). In 9 eyes (64%), the improvement was associated with visible vitreous changes in the macular area on the OCT scans. The mean visual acuity, which was already good at baseline (20/50, 0.4 ± 0.2 logarithm of the minimum angle of resolution), increased at the last visit (20/40, 0.3 ± 0.3 logarithm of the minimum angle of resolution) but without reaching significance., Conclusions: This long-term follow-up analysis showed that almost 20% of MMS in eyes without indication for surgery could improve over time. In most cases, the improvement was associated with an apparent resolution of vitreous tensions., 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.)

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family.

Background: To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy.Case Presentation: A 6-year-old Chinese girl complained about night blindness and progressive decreased vision in both eyes. Her best corrected visual acuity (BCVA) was 20/63 OD and 20/100 OS. Fundus examination showed bilateral multiple, sharply demarcated, scallop-shaped chorioretinal atrophy areas in the midperipheral and peripheral of the fundus. Spectral domain optical coherence tomography (SD-OCT) showed increased central macular thickness (CMT) with multiple intraretinal cystic spaces in the both eyes. There was no leakage or staining in the macular area in late phase of fluorescein angiography (FA). Blood tests confirmed hyperornithinemia and genetic analysis revealed two heterozygous mutations on ornithine aminotransferase (OAT) gene. Based on clinical presentation and genetic test, the patient was diagnosed as GA of the choroid and retina and further treated with vitamin B6 supplementary for three weeks. Her serum ornithine levels did not change but CMT on SD-OCT declined with partial regression of intraretinal cystic spaces. Then, the patient discontinued the drug because of severe muscle pain, and foveoschisis increased to initial level a month later.Conclusions: Foveoschisis is a rare complication of GA. Vitamin B6 supplementation may alleviate foveoschisis, but its effort for reducing serum ornithine level might be limited. Potential drug adverse effects should be noted in pediatric patients. [ABSTRACT FROM AUTHOR]

Abstract Background To report the results of multimodal imaging of a biochemically confirmed case of a family with gyrate atrophy (GA) associated with foveoschisis and macular pseudohole. Case presentation Two sisters presented to us with progressive bilateral decreased vision. The 26-year old sister had a best corrected visual acuity (BCVA) of 20/32 in the right eye (RE) and 20/100 in the left eye (LE). Dilated fundus examination revealed multiple bilateral chorioretinal atrophy areas in the midperipheral and peripheral retina. Fluorescein angiography did not show any leak in the macular area. Swept-source optical coherence tomography (SS-OCT) showed increased central macular thickness in both eyes with foveoschisis. Optical coherence tomography angiography (OCTA) showed petaloid non-reflective areas and some perifoveal microvascular alterations similar to telangiectasias in the deep capillary complex. The 30-year-old sister had a BCVA of 20/20 in the RE and 20/32 in the LE. SS-OCT was normal in the RE and demonstrated a macular pseudohole with a fine epiretinal membrane in the LE. The persistent retinal tissue at the base of the pseudohole was disorganised. Blood tests showed hyperornithinemia in the 2 cases. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina and were treated with a pyridoxine supplement and an arginine-restricted diet. Conclusions Foveoschisis and macular pseudohole may be associated in GA, increasing the risk of rapid vision loss. OCTA is an interesting imaging tool that can help to better understand the pathophysiological mechanism of these macular involvements in GA.

Optic disc pit is a rare congenital defect which appears as a circumscribed greyish depression in the lamina cribrosa. Serous macular detachment is one of the most visually debilitating complications of optic disc pit, affecting 25-75 per cent of patients. Although there is a wide variety of treatment modalities available with varying degrees of success, there is yet no consensus in the optimal management of optic disc pit-associated maculopathy. This review discusses the literature on the pathogenesis, clinical presentation, diagnosis and treatment options. [ABSTRACT FROM AUTHOR]

Purpose: To determine the prevalence of posterior segment manifestations among consecutive patients with pathological myopia attending our University Hospital general ophthalmology clinic and their association with age, refractive error, axial length and each other. Methods: Patients diagnosed with pathological myopia underwent full ophthalmological examination, optical coherence tomography, fluorescein angiography, and ocular ultrasonography. Manifestations detected were recorded for each eye and their prevalence and association with age, refractive error, axial length and each other was determined. Results: A total of 127 eyes of 77 patients with pathological myopia were examined. The most prevalent manifestation was peripheral retinal lesions, found in 63.8% of examined eyes, followed by tigroid fundus, found in 59.1%. Peripheral lesions were significantly associated with more myopia (P =.02) and longer axial length (P =.046). The commonest peripheral lesion was white without pressure, found in 37.8% of eyes. Lattice degeneration was found in 11.8% and snail track degeneration in 4.7% and was not associated with degree of myopia or axial length. Diffuse chorioretinal atrophy was present in 40.9% of eyes, while patchy atrophy was present in 18.9%. Macular holes were present in 4.7% of eyes and were significantly associated with foveoschisis (P =.035) and retinal detachment (P =.003), while foveoschisis was present in 5.5% and was significantly associated with older age (P =.012), longer axial length (P =.010) and patchy chorioretinal atrophy (P =.024). Retinal detachment was found in 6.3% of eyes and retinal breaks in 4.7%. Posterior staphyloma was detected in 33.1% and lacquer cracks and choroidal neovascular membranes in 6.3% of eyes. Conclusions: The prevalence of pathological myopia manifestations may differ between different populations. This may be due to the multiple genetic and environmental factors involved which may result in a variable natural history of the condition among different populations. [ABSTRACT FROM AUTHOR]

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family. [ABSTRACT FROM AUTHOR]

Purpose: To report the retinal phenotype of a rare case of long-chain 3-hydroxyacylCoA dehydrogenase (LCHAD)/trifunctional protein (TFP) deficiency diagnosed in his late 40s with ocular findings of diffuse chorioretinal atrophy and bilateral retinoschisis. Methods: An acylcarnitine profile assay revealed LCHAD/TFP deficiency in a 45-year-old man with a history of high myopia, bilateral decreased vision, episodic rhabdomyolysis, and peripheral neuropathy. Ocular findings were evaluated with spectral domain optical coherence tomography (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) and color fundus photography. Results: Spectral domain optical coherence tomography revealed severe bilateral macular retinoschisis. Subretinal fibrosis was noted in the left temporal macula with an associated lamellar macular hole. Fundus photographs demonstrated diffuse, symmetric chorioretinal atrophy characteristic of end-stage retinopathy, as previously reported in younger patients. Myopic staphylomas were evident in the posterior pole of both eyes. A trial of topical dorzolamide for 3 months resulted in no change in the retinal profile. Conclusion: We report the retinal phenotype of a patient with LCHAD/TFP deficiency diagnosed later in life. To date, this is the oldest patient reported with LCHAD/TFP– associated retinopathy. Macular retinoschisis may represent a feature of the end-stage retinopathy due to the progressive myopia. The diagnosis of LCHAD/TFP deficiency should be considered in adult patients with a history rhabdomyolysis, neuropathy, and retinopathy, as they would not have undergone routine newborn screening before the late 90s. [ABSTRACT FROM AUTHOR]

Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing. Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25). Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome. [ABSTRACT FROM AUTHOR]

AIM: To analyze the results of phacovitrectomy with internal limiting membrane(ILM)peeling to treat foveoschisis in ultra-high myopia. METHODS: Totally 32 eyes of 32 ultra-high myopia patients with foveoschisis were selected retrospectively. The preoperative refractive errors ranged from -12.00D to -20.00D with the mean of -15.78±2.16D. The best corrected visiual acuity(BCVA)were converted to LogMAR acuity, and the average BCVA was 4.1±0.4. Conventional phacovitrectomy with ILM peeling by ICG dying were performed. Gas tamponade were performed to end the operation. The BCVA and the foveoschisis cavity were observed by 1-9mo after the surgery, with the mean of 4.5mo. RESULTS: The foveoschisis cavity of 30 eyes were healed with BCVA increased and visual distortion alleviated distinctly(94%)(t=-7.91, PCONCLUSION: Phacovitrectomy with ILM peeling is useful in treating foveoschisis in ultra-high myopia with visual function preserving.

Pathological myopia are often complicated by a series of pathological changes in fundus including foveoschisis, which can lead to visual dysfunction when processing with retinal detachment, macular hole, epiretinal membrane and vitreoretinal traction diseases. According to the current knowledge, the main mechanism of foveoschisisi might be attributed to the impaired macular structure and function caused by a variety of traction on the retinal and retina poor condition. Surgical treatments have been reported to be effective in treating foveoschisis, however, the indications and surgical procedures are still controversial. In this article, we reviewed the clinical features, diagnosis, treatment strategies and prognosis of pathological myopia foveoschisis.

Purpose: To report a long-term follow-up of a CRB1-associated maculopathy. Methods: A case report. Results: A 47-year-old man was diagnosed with bilateral maculopathy. The clinical picture and the foveoschisis abnormalities present in the right eye were consistent with X-linked retinoschisis. During the follow-up we observed the spontaneous passage from a foveal schitic shape to a cystic profile and then to atrophic maculopathy. Two pathogenic CRB1 mutations were detected and he was subsequently diagnosed with CRB1-associated maculopathy. Conclusions: Our clinical case allowed us to observe three different stages in the natural history of this particular CRB1-associated macular phenotype: a foveoschisis phenotype, cystoid macular abnormalities involving outer and inner retinal layers and macular atrophy. CRB1 mutations may be a rare cause of foveal schisis which progressively evolves in atrophic maculopathy and the clinician should be aware of this unusual macular phenotype. [ABSTRACT FROM AUTHOR]

Aim: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. Background: Biallelic mutations in theMFRPgene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations inSLC37A4gene located in the same chromosomal region. Methods: An Omani family with three siblings diagnosed with GSD-1b presented with ocular manifestations of progressive visual impairment and diminution of night vision. All siblings underwent a standard ophthalmic and clinical genetic evaluation. Full sequencing of theMFRPandSLC37A4genes and haplotype analysis was carried out. Results: The three children (2F:1M) aged 13, 17, and 18 years were born to consanguineous parents. Their best-corrected visual acuity ranged from 20/60 to 20/15. Ophthalmic exam revealed bilateral optic disc drusen, foveoschisis, and pigmentary retinopathy, hyperopia of +12 to +15.5 diopters, and decreased axial length (15.8–16.39 mm) in all affected siblings. Full-field electroretinography showed rod-cone dysfunction. Sequence analysis revealed two novel variants in a homozygous state in theSLC37A4andMFRPgenes in all the affected patients. Conclusions: We report theMFRP-related ocular phenotype in three siblings with GSD-1b. Molecular genetic studies identified novel mutations in theMFRPandSLC37A4genes. Co-inheritance of a haplotype harboring mutations in both loci on chromosome 11q23 resulted in co-occurrence of theMFRP-related ocular phenotype and GSD-1b. This has not been reported previously. [ABSTRACT FROM PUBLISHER]

• Ornithine aminotransferase (OAT) deficiency characterized by elevated serum ornithine levels caused by mutations in genes encoding for ornithine aminotransferase, a vitamin B6-dependent mitochondrial matrix enzyme. • Gyrate atrophy characterized by sharply demarcated circular, pigmentary, brain-like areas of chorioretinal atrophy in the peripheral retina. • Foveoschisis is the detachment of the inner retinal layers of the macula. • The coexistence of GA and foveoschisis is extremely rare in OAT deficiency. We report a case of foveoschisis in a patient with OAT, and we will discuss the possible mechanisms that lead to it. Ornithine aminotransferase (OAT) deficiency is an autosomal recessive disease characterized by elevated serum ornithine levels caused by mutations in genes encoding for ornithine aminotransferase, a vitamin B6-dependent mitochondrial matrix enzyme. Gyrate atrophy (GA) is characteristic findings in OAT that characterized by sharply demarcated circular, pigmentary, brain-like areas of chorioretinal atrophy in the peripheral retina. This case report presents rare assosiation between OAT and GA and describes the characteristic imaging findings of this unique, not fully understood clinical entity. The coexistence of GA and foveoschisis is extremely rare in OAT deficiency. We report a case of foveoschisis in a patient with OAT, and we will discuss the possible mechanisms that lead to it. A 24-year-old male patient presented with complaints of decreased vision and nictalopia for 1 year. The patient, who was diagnosed with oat 6 years ago, had typical gyrate atrophy in his Fundus floresein angiography and foveoschisis in his Optical coherence tomography. He was diagnosed with gyrate atrophy and foveoschisis. GA caused by OAT deficiency may present with macular involvement in the form of foveoschisis causing central visual impairment. Ophthalmologists should not ignore detailed fundus examination in children and young patients with visual impairment and should be aware of possible systemic diseases. [ABSTRACT FROM AUTHOR]

Purpose Myopic foveoschisis occurs in 9-34% of highly myopic eyes with posterior staphyloma. The pathogenesis is still not fully understood. But the relative inflexibility of the inner retina and a tangential traction induced inward traction force in the posterior staphyloma are possible mechanisms. Conventional internal limiting membrane ( ILM) peeling generally yields good results. However, a postoperative full-thickness macular hole happens in 13-28% of cases. Therefore, this study describes a modified ILM peeling technique named ' ILM maculorrhexis' to minimize the occurrence of postoperative macular hole in patients with foveoschisis. Methods This retrospective case review that included 10 eyes of 10 consecutive patients who underwent vitrectomy with ILM maculorrhexis to treat myopic foveoschisis was studied. After surgery, complete ophthalmic examination and SD-optic coherence tomographic examinations were performed 1, 3, 6, 9 and 12 months postoperatively. Results After surgical intervention, the foveoschisis resolved dramatically in all 10 eyes. The mean central foveal thickness decreased significantly from 840 μ to 273 μ at 12 months postoperatively. Mean Log MAR best-corrected visual acuity improved from 1.04 preoperatively to 0.59 12 months postoperatively. After the follow-up time of at least 12 months, all 10 eyes remained fovea attached, and none of the 10 eyes developed macular hole. Conclusions This technique minimizes traction force over the extremely thinned foveal tissue in highly myopic eyes. In the long-term follow-up of at least 12 months, all 10 cases had good anatomic and visual results. But we still need a larger case number and longer follow-up for further evaluation. [ABSTRACT FROM AUTHOR]

Purpose: To report a case of unilateral stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) in a young male showing structural changes induced by a Valsalva maneuver. Methods: Case report of a 26-year-old oboist with SNIFR, including multimodal imaging. Eye-tracked spectral-domain optical coherence tomography (SD-OCT) was used to compare the retinal architecture at rest and during a Valsalva maneuver. Results: Spectral-domain optical coherence tomography showed macular and peripapillary retinoschisis with no signs of pathologic myopia, optic pit, or vitreoretinal traction. A full-field electroretinogram showed supranormal responses in the eye studied. Magnetic resonance imaging of the brain showed no abnormalities. Eye-tracked SD-OCT scans showed an increase in retinal thickness reaching 28 microns superior to the disc during an induced Valsalva maneuver. Conclusion: Stellate nonhereditary idiopathic foveomacular retinoschisis is a diagnosis made when other known causes of retinoschisis have been excluded. In this patient with unilateral SNIFR, an increase in retinal thickness during a Valsalva maneuver was demonstrated. Further study would be needed to determine the mechanism producing this change and to assess its potential influence on visual prognosis. [ABSTRACT FROM AUTHOR]