Retinitis Punctata Albescens and RLBP1-Allied Phenotypes
Béatrice Bocquet, Hicham El Alami Trebki, Anne‐Françoise Roux, Gilles Labesse, Philippe Brabet, Carl Arndt, Xavier Zanlonghi, Sabine Defoort‐Dhellemmes, Dalil Hamroun, Céline Boulicot-Seguin, Léopoldine Lequeux, Marie Picot, Hélèna Huguet, Isabelle Audo, Claire Marie Dhaenens, Vasiliki Kalatzis, Isabelle Meunier
Abstract
Purpose: pathogenic variants in a large cohort comprising children and adults. Design: Retrospective cohort study. Participants: registered in a single French reference center specialized in inherited retinal dystrophies. Methods: Clinical, multimodal imaging, and genetic findings were reviewed. Main Outcome Measures: Age of onset; visual acuity; ellipsoid line length; nasal, temporal, and foveal retinal thickness; and pathogenic variants and related phenotypes, including Newfoundland rod-cone and Bothnia dystrophies (NFRCDs), were reappraised. Results: p.Arg121Trp and a second, with the p.Arg9Cys and p.Tyr111∗ combination, both demonstrated mild retinitis punctata albescens. Independently of genotype, all patients showed a visual acuity of worse than 20/200, an ellipsoid line width of less than 1000 μm, and a mean foveal thickness of less than 130 to 150 μm, with loss of both the interdigitation and ellipsoid lines. Conclusions: gene therapy first should be determined according to the biallelic variant combination using a robust classification as proposed herein. An ellipsoid line width of more than 1200 μm and a central thickness of more than 130 to 150 μm with detectable ellipsoid and interdigitation lines should be 2 prerequisite imaging indicators for gene therapy.