Raphaëlle Orès1, Saddek Mohand-Said2, Claire-Marie Dhaenens3, Aline Antonio4, Christina Zeitz4, Edouard Augstburger1, Camille Andrieu1, José-Alain Sahel5, Isabelle Audo6. 1. Centre de Maladies Rares "Dystrophies Rétiniennes d'Origine Génétique," DHU Sight Restore INSERM-DHOS CIC 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France. 2. Centre de Maladies Rares "Dystrophies Rétiniennes d'Origine Génétique," DHU Sight Restore INSERM-DHOS CIC 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France. 3. Department of Biochemistry and Molecular Biology-UF Génopathies, Université Lille, Inserm UMR-S 1172, CHU Lille, Lille, France. 4. INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France. 5. Centre de Maladies Rares "Dystrophies Rétiniennes d'Origine Génétique," DHU Sight Restore INSERM-DHOS CIC 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. 6. Centre de Maladies Rares "Dystrophies Rétiniennes d'Origine Génétique," DHU Sight Restore INSERM-DHOS CIC 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France. Electronic address: isabelle.audo@inserm.fr.
Abstract
PURPOSE: To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age. DESIGN: Retrospective, observational study. PARTICIPANTS: Data from 52 consecutive male patients with molecularly confirmed XLRS were collected retrospectively. METHODS: Complete clinical evaluation included best-corrected visual acuity, full-field electroretinography, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine full thickness of the retina and tomographic structural changes. MAIN OUTCOME MEASURES: Relationships between age, OCT, and visual acuity were assessed. RESULTS: One hundred four eyes of 52 patients were included. The mean age at inclusion was 24±15 years (range, 3-57 years). The best-corrected visual acuity ranged from no light perception to 0.1 logarithm of the minimum angle of resolution (mean, 0.6±0.38 logarithm of the minimum angle of resolution). Macular schisis was found in 88% of eyes and macular atrophy was found in 11% of eyes, whereas peripheral schisis was present in 30% of eyes. A spoke-wheel pattern of high and low intensity was the most frequently observed fundus autofluorescence abnormality (51/94 eyes [54%]). The b-to-a amplitude ratio on bright-flash dark-adapted electroretinography was reduced significantly in 45 of 64 eyes (70%). Spectral-domain OCT was available for 97 eyes and showed foveoschisis in 76 of 97 eyes (78%), parafoveal schisis in 10 of 97 eyes (10%), and foveal atrophy in 11 of 97 eyes (11%). Mean central macular thickness (CMT) was of 373.6±140 μm. Cystoid changes were localized mainly in the inner nuclear layer (85/97 eyes [88%]). Qualitative defects in photoreceptor structures were found in most eyes (79/97 eyes [81%]), and the most frequent abnormality was an interruption of the photoreceptor cell outer segment tips (79/79 eyes [100%]). Older age correlated well with lower CMT (correlation coefficient [CC], -0.44; P < 0.001) and with lower photoreceptor outer segment (PROS) length (CC, -0.42; P < 0.001). Lower visual acuity correlated strongly with lower PROS length (CC, -0.53; P < 0.001). CONCLUSIONS: This study underlined the wide variety of clinical features of XLRS. It highlighted the correlation between visual acuity, patient age, and OCT features, emphasizing the relevance of the latter as potential outcome measure in clinical trials.
PURPOSE: To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age. DESIGN: Retrospective, observational study. PARTICIPANTS: Data from 52 consecutive male patients with molecularly confirmed XLRS were collected retrospectively. METHODS: Complete clinical evaluation included best-corrected visual acuity, full-field electroretinography, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine full thickness of the retina and tomographic structural changes. MAIN OUTCOME MEASURES: Relationships between age, OCT, and visual acuity were assessed. RESULTS: One hundred four eyes of 52 patients were included. The mean age at inclusion was 24±15 years (range, 3-57 years). The best-corrected visual acuity ranged from no light perception to 0.1 logarithm of the minimum angle of resolution (mean, 0.6±0.38 logarithm of the minimum angle of resolution). Macular schisis was found in 88% of eyes and macular atrophy was found in 11% of eyes, whereas peripheral schisis was present in 30% of eyes. A spoke-wheel pattern of high and low intensity was the most frequently observed fundus autofluorescence abnormality (51/94 eyes [54%]). The b-to-a amplitude ratio on bright-flash dark-adapted electroretinography was reduced significantly in 45 of 64 eyes (70%). Spectral-domain OCT was available for 97 eyes and showed foveoschisis in 76 of 97 eyes (78%), parafoveal schisis in 10 of 97 eyes (10%), and foveal atrophy in 11 of 97 eyes (11%). Mean central macular thickness (CMT) was of 373.6±140 μm. Cystoid changes were localized mainly in the inner nuclear layer (85/97 eyes [88%]). Qualitative defects in photoreceptor structures were found in most eyes (79/97 eyes [81%]), and the most frequent abnormality was an interruption of the photoreceptor cell outer segment tips (79/79 eyes [100%]). Older age correlated well with lower CMT (correlation coefficient [CC], -0.44; P < 0.001) and with lower photoreceptor outer segment (PROS) length (CC, -0.42; P < 0.001). Lower visual acuity correlated strongly with lower PROS length (CC, -0.53; P < 0.001). CONCLUSIONS: This study underlined the wide variety of clinical features of XLRS. It highlighted the correlation between visual acuity, patient age, and OCT features, emphasizing the relevance of the latter as potential outcome measure in clinical trials.
Authors: Camasamudram Vijayasarathy; Yong Zeng; Matthew J Brooks; Robert N Fariss; Paul A Sieving Journal: Hum Gene Ther Date: 2020-12-14 Impact factor: 5.695