Retina (Philadelphia, Pa.) · 2026
EARLY FINDINGS FROM A NATURAL HISTORY STUDY OF PATIENTS WITH THE PATHOGENIC p.Gly208Asp PRPH2 VARIANT ASSOCIATED WITH RETINAL DYSTROPHY.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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AlAshwal Shadi M, Kako Rasha, Kalaw Fritz Gerald P, Walker Evan, Tran Melanie, Wagner Naomi E, Nagel Ines, Yassin Shaden, Most Jesse, Borooah Shyamanga
Аннотация
PURPOSE: The aim of this study was to describe the longitudinal retinal degenerative changes associated with the p.Gly208Asp PRPH2 variant using multimodal imaging.
METHODS: A prospective, longitudinal cohort study was conducted, including seven patients heterozygous for the pathogenic p.Gly208Asp PRPH2 variant and nine age-matched controls. Demographics and best-corrected visual acuity (BCVA) were obtained. Imaging included optical coherence tomography (OCT) and fundus autofluorescence (FAF). Mesopic microperimetry assessed retinal sensitivity.
RESULTS: At baseline, all cases exhibited a central areolar chorioretinal dystrophy (CACD) phenotype with 4 cases exhibiting stage IV and 3 cases at stage II. Six patients had longitudinal data with a mean follow-up of 1 year. Overall, the mean retinal thickness significantly reduced ( P = 0.001), although microperimetric mean sensitivity was not significantly altered with follow-up. In atrophic eyes, areas of definitely decreased autofluorescence increased significantly ( P < 0.001) with follow-up.
CONCLUSION: This study highlights an association with the CACD phenotype in patients carrying the p.Gly208Asp PRPH2 variant. Multimodal imaging identified short-term markers of progression that may be useful for disease monitoring and potential future clinical trials.
METHODS: A prospective, longitudinal cohort study was conducted, including seven patients heterozygous for the pathogenic p.Gly208Asp PRPH2 variant and nine age-matched controls. Demographics and best-corrected visual acuity (BCVA) were obtained. Imaging included optical coherence tomography (OCT) and fundus autofluorescence (FAF). Mesopic microperimetry assessed retinal sensitivity.
RESULTS: At baseline, all cases exhibited a central areolar chorioretinal dystrophy (CACD) phenotype with 4 cases exhibiting stage IV and 3 cases at stage II. Six patients had longitudinal data with a mean follow-up of 1 year. Overall, the mean retinal thickness significantly reduced ( P = 0.001), although microperimetric mean sensitivity was not significantly altered with follow-up. In atrophic eyes, areas of definitely decreased autofluorescence increased significantly ( P < 0.001) with follow-up.
CONCLUSION: This study highlights an association with the CACD phenotype in patients carrying the p.Gly208Asp PRPH2 variant. Multimodal imaging identified short-term markers of progression that may be useful for disease monitoring and potential future clinical trials.