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X-linked Retinoschisis: Deep Phenotyping and Genetic Characterization

Georgiou, M; Finocchio, L; Fujinami, K; Fujinami-Yokokawa, Y; Virgili, G; Mahroo, OA; Webster, AR; (2022) X-linked Retinoschisis: Deep Phenotyping and Genetic Characterization. Ophthalmology , 129 (5) pp. 542-551. 10.1016/j.ophtha.2021.11.019. Green open access

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OBJECTIVE: To examine the genetic and clinical features in children and adults with XLRS. DESIGN: Single-center consecutive, retrospective, observational study. SETTING: Single tertiary referral center. PARTICIPANTS: Adults and children, with molecularly confirmed XLRS, followed up between 1999 and 2020. MAIN OUTCOMES AND MEASURES: Genetic, clinical and retinal imaging findings, including optical coherence tomography (OCT) and fundus autofluorescence (FAF), cross-sectionally and longitudinally; and explore correlations including between best corrected visual acuity (BCVA) and age, and OCT characteristics. RESULTS: One hundred and thirty-two males were identified, harbouring 66 RS1 variants, with seven being novel. The mean age of onset was 16.5 years (range 2 to 55 years). Seventy-one patients (71/75, 94.7%) were symptomatic at presentation; all had decreased BCVA. Fundoscopy findings were symmetric in 104 patients (104/108, 96.3%), with the most common finding being macular schisis (82.4%), whereas peripheral retinoschisis was present in 38.9% and macular atrophy in 11.1%. Twenty patients (18.5%) developed complications (vitreous haemorrhage and/or retinal detachment). Mean BCVA was 0.65 LogMAR (20/89 Snellen) in the right eye and 0.64 LogMAR (20/87 Snellen) in the left eye. Mean BCVA change over a mean interval of 6.7 years was 0.04 and 0.01 LogMAR for right and left eyes, respectively. FAF was normal in 16 of 106 eyes (15.1%); 45 eyes (42.5%) showed a spoke-wheel pattern, 13 (12.3%) had foveal hyperautofluorescence, while 18 (17.0%) had central reduction in signal. In total, 14 patients had evidence of FAF progression over time, indicated by change in the FAF pattern. On OCT, foveoschisis was observed in 172 eyes (172/215, 80%), parafoveal schisis in 171 (171/215, 79.5%), and foveal atrophy in 44 (44/215, 20.5%). Cystoid changes were localized to the inner nuclear layer (172/181 eyes, 95%), the outer nuclear layer (97/181, 53.6%) and the ganglion cell layer (92/181, 50.8%). Null variants were associated with worse final BCVA and aforementioned complications. CONCLUSIONS AND RELEVANCE: XLRS is highly phenotypically variable but with relative foveal preservation (and associated BCVA) until late adulthood, allowing more accurate prognostication. The slowly (often minimally) progressive disease course may pose a challenge in identification of early endpoints for therapeutic trials aimed at altering kinetics of degeneration.

Type: Article
Title: X-linked Retinoschisis: Deep Phenotyping and Genetic Characterization
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ophtha.2021.11.019
Publisher version: https://doi.org/10.1016/j.ophtha.2021.11.019
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Fundus Autofluorescence, Optical Coherence Tomography, RS1, X-linked retinoschisis, XLRS, gene therapy, genotype, phenotype
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10139457
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