[Emphasizing the timing and procedure selection for vitrectomy in pathological myopic traction maculopathy].

Myopic maculopathy is the primary cause of irreversible visual impairment in patients with pathologic myopia, and myopic traction maculopathy often requires vitrectomy for treatment. Myopic traction maculopathy encompasses epiretinal membrane, foveoschisis, macular hole, and macular hole-related retinal detachment. It is recommended to perform vitrectomy combined with inner limiting membrane peeling for Type II epiretinal membrane, foveal-sparing inner limiting membrane peeling for foveoschisis, inverted inner limiting membrane flap technique for macular hole, and vitrectomy combined with macular buckle for refractory macular hole-related retinal detachment. Myopic traction maculopathy is a chronically progressive condition, and surgeons need to accurately determine the timing of surgery and choose appropriate procedures to maximize the benefits for patients.

Observation of macular hole associated with retinoschisis in patients with high myopia.

PURPOSE: To observe the characteristics of highly myopic macular holes (HMMHs) with macular retinoschisis (MRS) by optical coherence tomography (OCT) and explore the possible relationship between HMMHs and different types of MRS. METHODS: We consecutively reviewed the clinical data and OCT images of the patients with HMMHs from June 2015 to February 2021. Then we picked eyes with MRS from these HMMHs for analysis. The minimum linear diameter (MLD), basal diameter (BD), and height (H) of HMMHs were measured. HMMHs were grouped according to the extent or layer involvement of the concomitant MRS and the characteristics were compared among groups. The impact of MRS on the MLD of macular hole was analyzed with multivariable linear regression. RESULTS: We included 127 patients with MRS from 168 HMMHs (75.5%) for analysis. According to the different classification systems, the most frequent type of MRS in HMMHs was S3 (foveal but not entire macular area MRS) (62.2%) and both inner- and outer- (I/O-MRS) involved types. In our study, HMMHs with more extensive MRS had larger MLD, larger BD, larger H, and poorer best-corrected visual acuity (BCVA). Meanwhile, HMMHs with outer layer-involved MRS (outer MRS and I/O-MRS) had larger BD than HMMH with only inner layer-involved MRS. (All P < 0.05) Multivariable linear regression further illustrated only the extent of MRS was significantly associated with the MLD of HMMH, while there was no significant correlation between the involved retinal layers and the MLD of HMMH. CONCLUSION: HMMH with MRS presented as a predominant type in HMMHs. The MRS was always with a relatively large extent and involved both inner and outer layers. MLD of HMMH was mainly affected by the extent of MRS.

LONG-TERM EVOLUTION OF MYOPIC RETINOSCHISIS WITH A DOME-SHAPED MACULA AND PREDICTORS OF PROGRESSION AND VISUAL PROGNOSIS.

PURPOSE: To study the long-term natural course of myopic retinoschisis (MRS) with a dome-shaped macula (DSM) and to identify the factors affecting its development and visual prognosis. METHODS: In this retrospective case series study, we followed 25 MRS eyes with a DSM and 68 MRS eyes without a DSM for at least two years and observed changes in optical coherence tomography morphologic features and best-corrected visual acuity. RESULTS: During the mean follow-up of 48.3 ± 13.24 months, the difference in the rate of MRS progression between the DSM and non-DSM groups was not significant ( P = 0.7462). In the DSM group, the patients whose MRS progressed were older and had a higher refractive error than those whose MRS was stable or improved ( P = 0.0301 and 0.0166, respectively). The patients whose DSM was located in the central fovea had a significantly higher progression rate than those whose DSM was located in the parafovea ( P = 0.0421). For all DSM eyes, BCVA did not decrease significantly in eyes with extrafoveal retinoschisis ( P = 0.2500), patients whose best-corrected visual acuity decreased more than two lines had a greater central foveal thickness initially than those whose best-corrected visual acuity decreased less than two lines during the follow-up period ( P = 0.0478). CONCLUSION: A DSM did not delay the progression of MRS. The development of MRS in DSM eyes was associated with age, myopic degree, and DSM location. A higher schisis cavity predicted visual deterioration, and a DSM protected visual function in extrafoveal MRS eyes during the follow-up period.

EFFICACY OF INNER WALL RETINECTOMY FOR BULLOUS SCHISIS CAVITY HANGING OVER OR THREATENING THE MACULA IN PATIENTS WITH CONGENITAL X-LINKED RETINOSCHISIS.

PURPOSE: To present the clinical characteristics, surgical outcomes, and surgical complications of patients with congenital X-linked retinoschisis who underwent vitrectomy for bullous schisis cavity hanging over or threatening the macula. METHODS: Nine patients with congenital X-linked retinoschisis (12 eyes) who underwent vitrectomy at three tertiary hospitals and completed ≥3 years of postoperative follow-up were retrospectively investigated. Data were collected from patients' charts, including age at vitrectomy, surgical procedures, and postoperative complications. RESULTS: The age at vitrectomy ranged 4 months to 103 months (median: 14 months). Inner wall retinectomy was performed during the initial vitrectomy in eight eyes. Among the eight eyes that initially underwent inner wall retinectomy, one (12.5%) required subsequent retinal surgery for postoperative complication. Furthermore, four eyes did not undergo initial inner wall retinectomy but required subsequent retinal surgeries for postoperative complications. Three of five eyes (60.0%) treated with silicone oil tamponade and two of seven eyes (28.6%) that were not treated with silicone oil tamponade during the initial vitrectomy required subsequent retinal surgeries for postoperative complications. All eyes maintained a clear central visual axis at the last examination. CONCLUSION: Inner wall retinectomy seems beneficial in achieving a clear visual axis in eyes with bullous schisis cavity hanging over or threatening the macula in patients with congenital X-linked retinoschisis.

AN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.

PURPOSE: To explore the etiologies, characteristics, and prognosis of lamellar macular hole (LMH) in pediatric patients. METHODS: A consecutive series of 59 patients (62 eyes) aged <16 years with MHs (lamellar and full-thickness) treated from 2013 to 2021 in a tertiary center was reviewed. Data collected included demographic and clinical characteristics, management, and outcomes of patients presenting with LMH. RESULTS: Twelve eyes (19.4%) of 11 children had LMH. Seven patients were male, with an average age of 6.9 years. The primary pathologies included X-linked retinoschisis in six eyes (50%); familial exudative vitreoretinopathy in two (16.7%); and ocular toxocariasis, Coats disease, persistent hyperplastic primary vitreous, and idiopathic LMH with associated lenticonus in one eye (8.3%) each. Four eyes (36.4%) showed tractional appearance and seven (63.6%) degenerative. All degenerative LMH showed ellipsoidal zone defect, significantly higher than that in the tractional group (25%, 1/4) ( P = 0.024). Five eyes achieved closed LMH and limited visual gain, four underwent surgery, and one closed spontaneously. CONCLUSION: X-linked retinoschisis was the most frequent primary cause in pediatric LMH. Two types of LMH can be classified: tractional and degenerative. The latter showed a higher rate of ellipsoidal zone defect. Vision improved after LMH closed, regardless of surgery or spontaneous closure.

LONG-TERM PROGRESSION PATTERN OF MYOPIC TRACTIONAL MACULOPATHY: Outcomes and Risk Factors.

PURPOSE: To evaluate the long-term progression pattern of myopic tractional maculopathy and the risk factors. METHODS: The prevalence and grade of myopic tractional maculopathy were assessed with optical coherence tomography at enrollment and at the 2-year follow-up. The severity of posterior staphyloma and the presence of dome-shaped macula were also evaluated. RESULTS: In total, 610 highly myopic eyes of 610 patients were analyzed. The prevalence of epiretinal membrane, myopic retinoschisis, and macular hole increased from 26.7%, 12.1%, and 4.4% at enrollment to 41.1%, 18.2%, and 9.5% at the 2-year follow-up, respectively. Epiretinal membrane progressed in 21.8% of eyes, but visual acuity did not decline significantly in these eyes. Myopic retinoschisis progressed in 6.8% of eyes, and macular hole progressed in 14.8% of eyes. Significantly greater best-corrected visual acuity reduction was detected in the eyes with myopic retinoschisis or macular hole progression than the rest ( P < 0.05). Multivariate analysis showed that longer axial length, more-severe posterior staphyloma, and absence of dome-shaped macula were associated with myopic tractional maculopathy progression. CONCLUSION: In highly myopic eyes, long-term visual acuity was relatively stable in those with epiretinal membrane, but was significantly affected by myopic retinoschisis or macular hole progression. Longer axial length, more-severe posterior staphyloma, and absence of dome-shaped macula were risk factors for myopic tractional maculopathy progression.

Glaucomatous optic nerve damage in the contralateral eye of a patient with peripapillary retinoschisis: a case report.

BACKGROUND: Peripapillary retinoschisis (PPRS) is often associated with glaucomatous eyes. It usually occurs in eyes with a more advanced stage of glaucoma with obvious optic nerve damage. We report a patient who was found to have PPRS in one eye during a routine physical examination without obvious glaucoma symptoms. Further examination revealed glaucomatous visual field loss and retinal nerve fiber layer defects in the contralateral eye. CASE PRESENTATION: A 55-year-old man presented for a routine physical examination. The anterior segment was normal in both eyes. Fundus examination revealed an elevated and red optic disc in the right eye. In addition, scattered patchy red lesions were seen on the retina on the temporal side of the optic disc. The color and boundary of the left optic disc were normal, and the cup-to-disc ratio was 0.6. Optical coherence tomography showed retinoschisis on the optic nerve head of the right eye throughout the entire circumference, extending to the retina on the temporal side of the optic disc. The intraocular pressure was 18 mmHg OD and 19 mmHg OS. The patient was diagnosed with PPRS (OD). However, no optic disc pit or optic disc coloboma was found. Further examination showed that the visual field of the patient's right eye was generally normal, while a glaucomatous visual field defect was found in the left eye, which manifested as a nasal step visual field defect. Moreover, stereophotography and a red-free fundus image revealed two retinal nerve fiber layer defects in the supratemporal and infratemporal regions of the retina of the left eye. Continuous intraocular pressure measurement found that the intraocular pressure fluctuated between 18 and 22 mmHg OD and 19-26 mmHg OS during the daytime. Primary open-angle glaucoma was then diagnosed. CONCLUSIONS: In this case, we found that PPRS was associated with glaucomatous optic nerve changes and visual field defects in the fellow eye.

Case Report: Bilateral Cecocentral Visual Field Defect Secondary to Congenital Optic Disc Pit.

SIGNIFICANCE: Congenital optic disc pits are known to cause complications, commonly maculopathy due to retinoschisis and/or neurosensory retinal detachment. Retinal nerve fiber layer defects with associated visual field defects without maculopathy are another complication and can result in decreased visual function but have rarely been reported in the literature, especially bilaterally. PURPOSE: This case report describes a patient with bilateral cecocentral visual field defects due to congenital optic nerve pits without associated maculopathy. CASE REPORT: A 42-year-old Black man presented with blur symptoms at near uncorrected. Of note, there was no history of substance abuse or nutritional deficiencies. Best-corrected acuities were 20/20 in the right eye and 20/30 in the left eye. Clinical examination revealed bilateral focal grayish depression of the temporal optic nerve cup with associated papillomacular retinal nerve fiber layer defects. Optical coherence tomography (OCT) imaging revealed bilateral focal excavation of the temporal cup, temporal thinning of the retinal nerve fiber layer, and correlated binasal thinning of the ganglion cell complex, in the absence of retinoschisis or neurosensory detachment. Threshold visual field testing revealed stable bilateral cecocentral visual field defects. A diagnosis of bilateral cecocentral visual field defect secondary to congenital optic disc pits was made based on the patient's history and clinical examination. CONCLUSIONS: A cecocentral visual field defect, unrelated to maculopathy, is a less common complication of congential optic disc pits that can cause decreased visual function. This case report provides evidence of this bilateral ocular condition and reviews the reported clinical, OCT, and threshold visual field manifestations of the disease. Specifically, spectral-domain OCT ganglion cell analysis seems useful in localizing the visual field defect.

Efficacy of Fovea-Sparing Internal Limiting Membrane Peeling for Epiretinal Membrane Foveoschisis.

INTRODUCTION: The aim of the study was to investigate the outcomes of vitrectomy with fovea-sparing internal limiting membrane (ILM) peeling (FSIP) for epiretinal membrane (ERM) foveoschisis based on new optical coherence tomography definitions. METHODS: Twenty-three eyes of 22 patients (69.7 ± 9.9 years old) who underwent vitrectomy with FSIP without gas tamponade for ERM foveoschisis were analyzed. All patients underwent follow-up examinations for at least 12 months. In the FSIP technique, the ILM is peeled off in a donut shape, preserving the foveal ILM. The logarithm of the minimal angle of resolution best-corrected visual acuity (BCVA), central macular thickness (CMT), and surgical complications were examined. RESULTS: The BCVA at 12 months improved significantly from baseline (p < 0.001). Baseline ellipsoid zone defects were found in 2 eyes (9%), and all defective eyes had recovered at 12 months. CMT decreased significantly from baseline (p < 0.001). Acute macular edema, full-thickness macular hole, and recurrence of ERM were not observed during follow-up. DISCUSSION/CONCLUSION: FSIP achieved good visual outcome and retinal morphological change. Moreover, FSIP might avoid acute macular edema in ERM foveoschisis surgery.

X-linked juvenile retinoschisis presenting with rhegmatogenous retinal detachment in a male Nigerian adolescent: A case report.

A 15-year-old boy came to the eye clinic with reduced vision in the left eye of a year's duration and prior trauma. Best-corrected visual acuity was 6/9 and hand movement in both eyes, respectively. The anterior segment examination was essentially normal except for a Marcus Gunn pupil and a polar cataract in the left eye. Goldmann applanation tonometry was 10 and 06 mmHg, respectively, in the right and left eyes. Binocular indirect ophthalmoscopy of the right eye revealed pink disc, normal vessels and the Mizuo-Nakamura phenomenon with a cartwheel appearance at the macula. The left eye had a total retinal detachment with proliferative vitreoretinopathy and retinal tear at 12 o' clock. Optical coherence tomography revealed posterior vitreous detachment and schitic cavities at the macula in the left eye. A diagnosis of left rhegmatogenous retinal detachment with background X-linked juvenile retinoschisis was made. The patient was advised on a pars plana vitrectomy under guarded visual prognosis.

[Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)]. / Atrofiya girate khorioidei i setchatki s ornitinemiei i foveoshizisom (klinicheskoe nablyudenie).

Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.

AN ASSOCIATION BETWEEN STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS, PERIPHERAL RETINOSCHISIS, AND POSTERIOR HYALOID ATTACHMENT.

PURPOSE: Stellate nonhereditary idiopathic foveomacular retinoschisis is a disorder characterized by splitting of the retina at the macula, without a known underlying mechanical or inherited cause. This study investigates demographic, anatomical, and functional characteristics of subjects with stellate nonhereditary idiopathic foveomacular retinoschisis, to explore potential underlying mechanisms. METHODS: In this single-site, retrospective, and cross-sectional, observational study, data were collected from 28 eyes from 24 subjects with stellate nonhereditary idiopathic foveomacular retinoschisis. Descriptive statistics were reported, based on the observed anatomico-functional features. RESULTS: The visual acuity remained stable (median 20/20) in all subjects over a median follow-up of 17 months. All cases demonstrated foveomacular retinoschisis within Henle's fiber layer, at the junction of the outer plexiform and outer nuclear layers. This schisis cavity extended beyond the limits of the macular OCT temporally in all eyes. In most affected eyes, there were documented features of peripheral retinoschisis and broad attachment of the posterior hyaloid at the macula. Functional testing in a cross-sectional subset demonstrated normal retinal sensitivity centrally but an absolute scotoma peripherally. CONCLUSION: Stellate nonhereditary idiopathic foveomacular retinoschisis seems to be associated with peripheral retinoschisis and anomalous or incomplete posterior hyaloid detachment. Despite chronic manifestation, this does not significantly affect central visual function but can manifest with profound loss of peripheral visual function.

Disc hemorrhage following peripapillary retinoschisis in glaucoma: a case report.

BACKGROUND: Disc hemorrhage (DH) is an important factor often associated with the development and especially progression of glaucoma. In contrast, some studies have reported peripapillary retinoschisis in glaucoma, but it is not recognized as a pathognomonic finding, and opinions on the clinical significance of retinoschisis are not consistent. Here,we present the case of DH following peripapillary retinoschisis in the same area within the same glaucomatous eye. CASE PRESENTATION: A 70-year-old man with high intraocular pressure (IOP) was referred to the glaucoma clinic. At the time of the baseline study, the IOP was 30mmHg, and peripapillary retinoschisis was discovered at 7 o'clock on the periphery of the optic nerve with swept-source optical coherence tomography. Accompanying retinal nerve fiber layer defect were manifest in the inferotemporal part with red-free fundus photography. Under the impression of open-angle glaucoma, we prescribe latanoprost ophthalmic solution. Eight months later, the IOP was 17mmHg, and the peripapillary retinoschisis had disappeared. DH was observed in the inferotemporal area in the same direction as that of the previous peripapillary retinoschisis. CONCLUSIONS: The case presented here are the first to report on the relationship between peripapillary retinoschisis and DH. Hopefully future studies will reveal the actual connection between peripapillary retinoschisis and DH.

DETECTION OF NEUROSENSORY RETINAL DETACHMENT COMPLICATING DEGENERATIVE RETINOSCHISIS BY ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE IMAGING.

PURPOSE: To determine whether neurosensory retinal detachment complicating degenerative retinoschisis (RS) can be reliably detected with ultra-widefield fundus autofluorescence evaluation. METHODS: Consecutive patients diagnosed with RS who had ultra-widefield fundus autofluorescence imaging were included in this retrospective case series. According to the fundus autofluorescence patterns, we divided the eyes into two groups: 1) eyes with RS and a hyperautofluorescent leading edge and 2) eyes with RS and without hyperautofluorescence. Peripheral spectral domain optical coherence tomography images at the level of RS were obtained. RESULTS: Thirty-eight eyes that met eligibility criteria were identified. Review of ultra-widefield fundus autofluorescence demonstrated 21/39 (55%) eyes with distinctive hyperautofluorescence over the area of RS (Group A) and 17/38 (45%) eyes without any form of hyperautofluorescence (Group B). Spectral domain optical coherence tomography images confirmed the presence of full-thickness neurosensory retina separation from the underlying retinal pigment epithelium in the areas of hyperautofluorescence in 10/10 eyes (100%) from Group A. None (0/11; 0%) of the eyes from Group B showed full-thickness neurosensory retina separation on the spectral domain optical coherence tomography imaging of the retina-RS interface. CONCLUSION: Hyperautofluorescent findings suggest the presence of a neurosensory retinal detachment. Retinal detachment associated with RS can be reliably detected on ultra-widefield fundus autofluorescence and may be a useful diagnostic imaging modality.

Peripheral retinal neovascularization secondary to highly myopic superficial Retinoschisis: a case report.

BACKGROUND: Peripheral Retinal neovascularization is well-described as a complication of X-linked retinoschisis, but less often observed in myopic and primary retinoschisis. We present a case of a myopic female who developed retinal microvascular abnormalities due to retinoschisis and subsequent vitreous hemorrhage which would cause severe visual damage without timely and proper treatment. CASE PRESENTATION: A 38-year-old highly myopic Chinese female complained of blurred vision in her right eye. Her best corrected visual acuitiy was 20/20 OU, and her refraction was - 9.00S OU. Dilated fundus examination revealed mild vitreous hemorrhage and abnormal vascular network nasal to the optic disc in her right eye. Optical Coherence Tomography (OCT)- angiography (OCTA) B-Scan showed superficial retinoschisis and well-depicted abnormal retinal microvascular network in inner retinal layer. Sectoral scatter laser photocoagulation was administered. Regression of most abnormal vessels was achieved in 1 month, but the patient experienced an unexpected episode of vitreous hemorrhage 3 months after the initial treatment, which was absorbed spontaneously in 2 weeks. Supplemental laser photocoagulation was applied and regular follow-up visit was suggested. CONCLUSION: Superficial retinoschisis in pathological myopia can be a driver of retinal microvascular abnormalities, possibly neovascularization, an extremely rare but severe complication which can be vision-threatening without timely and proper intervention.

Two cases of diabetic macular edema complicated by an atypical macular hole.

BACKGROUND: Here we report two patients who developed an atypical macular hole (MH) during the treatment course for diabetic macular edema (DME). CASE PRESENTATIONS: Patient 1 was a 73-year-old male. Optical coherence tomography (OCT) revealed perifoveal retinoschisis (RS) in addition to cystoid macular edema and serous retinal detachment (SRD) in his left eye, and that an MH had developed during the clinical course. A convex surface was formed at the MH margin toward the vitreous cavity, and granular shadows were observed in the fluid cuff. Intraoperative findings revealed a thin epiretinal macular membrane (ERM) around the MH. Patient 2 was a 79-year-old male. Although the patient underwent pars plana vitrectomy (PPV) for proliferative diabetic retinopathy (PDR) in both eyes, RS and a thin ERM in addition to SRD was observed in his left eye after surgery, and an MH developed during the clinical course. As in Patient 1, a convex surface was formed at the fluid cuff margin toward the vitreous cavity. CONCLUSIONS: Both patients had persistent DME, SRD, RS, and a thin ERM before the development of the MH. OCT revealed the formation of a convex surface at the MH margin toward the vitreous cavity, suggesting that the fragility of the layered structure of the retina combined with tangential retinal traction may have been involved in the atypical MH form.

OBSERVATION OF VITREOUS FEATURES USING ENHANCED VITREOUS IMAGING OPTICAL COHERENCE TOMOGRAPHY IN HIGHLY MYOPIC RETINOSCHISIS.

PURPOSE: To observe features of the posterior vitreous and vitreoretinal interface in highly myopic eyes with retinoschisis using enhanced vitreous imaging optical coherence tomography. METHODS: Comprehensive ophthalmologic examination and enhanced vitreous imaging optical coherence tomography were performed in 77 eyes of 63 patients with highly myopic retinoschisis. Two different modes of spectral domain optical coherence tomography were employed to estimate retinoschisis and the posterior vitreous features in optical coherence tomography images, respectively. The types and distribution of vitreoretinal interface abnormalities were also analyzed. RESULTS: Complete posterior vitreous detachment (PVD) was identified in 55 eyes (71.4%) with a Weiss ring. Residual cortex was found in 39 eyes (70.9%) with complete PVD. Vitreoretinal interface changes, including vitreoretinal adhesion and epiretinal membrane (ERM), most frequently appeared in the macular area (47.3%), followed by the inferior arched vessels region (34.5%). In partial PVD eyes, vitreoretinal traction, vitreoretinal adhesion, and epiretinal membrane tended to be observed in the inferior and superior arched vessels regions (54.5 and 40.9%, respectively). Among all types of vitreoretinal interface abnormalities, epiretinal membrane comprised the largest proportion (46.8%) despite the status of PVD. The presence of inner layers of retinoschisis connoted a relatively high possibility of vitreoretinal interface abnormalities occurring. CONCLUSION: Enhanced vitreous imaging optical coherence tomography reveals a high prevalence of vitreoretinal interface abnormalities in highly myopic eyes with retinoschisis. Vitreous cortex tends to remain on the macular area in eyes with complete PVD. Our findings may lead to better guidance for the surgical treatment of highly myopic retinoschisis.

A hybrid coloboma and optic disc pit associated with macular retinoschisis.

BACKGROUND: To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. CASE PRESENTATION: A 21-year-old woman presented with optic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left eye. Macular spectral domain optical coherence tomography (SD-OCT) of the left eye revealed macular retinoschisis, without serous detachment. CONCLUSIONS: Proper monitoring of patients with disc anomalies associated with maculopathy is mandatory. The use of OCT imaging during follow-up can help to identify involvement of the fovea or enlargement of the retinoschisis area.

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.

BACKGROUND: To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal imaging. METHODS: The Irish National Registry for Inherited Retinal Degenerations (Target 5000) is a program including clinical history and examination with multimodal retinal imaging, electrophysiology, visual field testing and genetic analysis. Nine affected patients were identified across 3 generations of an XLRS1 pedigree. DNA sequencing was performed for each patient, one carrier female and one unaffected relative. Pedigree mapping revealed a further 4 affected males. RESULTS: All affected patients had a history of reduced visual acuity and dyschromatopsia; however, the severity of phenotype varied widely between the nine affected subjects. The stage of disease was classified as previously described. Phenotypic severity was not linearly correlated with age. A novel RS1 (Xp22.2) mutation was detected (NM_000330: c.413C > A) resulting in a p.Thr138Asn substitution. Protein modelling demonstrated a change in higher order protein folding that is likely pathogenic. CONCLUSIONS: This family has a novel gene mutation in RS1 with clinical evidence of XLRS1. A proportion of the older generation has developed end-stage macular atrophy; however, the severity is variable. Confirmation of genotype in the affected grandsons of this pedigree in principle may enable them to avail of upcoming gene therapies, provided there is anatomical evidence (from multimodal imaging) of potentially reversible early stage disease.