Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy

RPE65-associated inherited retinal dystrophy (RPE65-IRD) is an early-onset retinal degeneration. The aim of this study was to describe the clinical features and natural course of this disease in a Chinese patient cohort with RPE65 biallelic va...

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Autores principales:	Jie Shi, Ke Xu, Jian-Ping Hu, Yue Xie, Xin Zhang, Xiao-Hui Zhang, Zi-Bing Jin, Yang Li
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>RPE65</i>-associated inherited retinal dystrophy clinical features <i>RPE65</i> variants genotype best-corrected visual acuity Medicine R
Acceso en línea:	https://doaj.org/article/7a8413c6383c406b8451d0d6223f2287
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spelling	oai:doaj.org-article:7a8413c6383c406b8451d0d6223f22872021-11-25T18:00:41ZClinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy10.3390/jcm102252292077-0383https://doaj.org/article/7a8413c6383c406b8451d0d6223f22872021-11-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/22/5229https://doaj.org/toc/2077-0383<i>RPE65</i>-associated inherited retinal dystrophy (<i>RPE65</i>-IRD) is an early-onset retinal degeneration. The aim of this study was to describe the clinical features and natural course of this disease in a Chinese patient cohort with <i>RPE65</i> biallelic variants. Thirty patients from 29 unrelated families with biallelic disease-causing <i>RPE65</i> variants underwent full ophthalmic examinations. Thirteen were followed up over time. An additional 57 Chinese cases from 49 families were retrieved from the literature to analyze the relationship between best-corrected visual acuity (BCVA) and age. Our 30 patients presented age-dependent phenotypic characteristics. Multiple white dots were a clinical feature of young patients, while maculopathy, epiretinal membrane, and bone spicules were common in adult patients. Among the 84 patients, BCVA declined with age in a nonlinear, positive-acceleration relationship (<i>p</i> < 0.001). All patients older than 40 years met the WHO standard for low vision. Longitudinal observation revealed a slower visual acuity loss in patients younger than 20 years than those in their third or fourth decade of life. Our study detailed the clinical features and natural course of disease in Chinese patients with <i>RPE65</i>-IRD. Our results indicated that these patients have a relatively stable BCVA in childhood and adolescence, but eyesight deteriorates rapidly in the third decade of life. These findings may facilitate the implementation of gene therapy in China.Jie ShiKe XuJian-Ping HuYue XieXin ZhangXiao-Hui ZhangZi-Bing JinYang LiMDPI AGarticle<i>RPE65</i>-associated inherited retinal dystrophyclinical features<i>RPE65</i> variantsgenotypebest-corrected visual acuityMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5229, p 5229 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>RPE65</i>-associated inherited retinal dystrophy clinical features <i>RPE65</i> variants genotype best-corrected visual acuity Medicine R
spellingShingle	<i>RPE65</i>-associated inherited retinal dystrophy clinical features <i>RPE65</i> variants genotype best-corrected visual acuity Medicine R Jie Shi Ke Xu Jian-Ping Hu Yue Xie Xin Zhang Xiao-Hui Zhang Zi-Bing Jin Yang Li Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
description	<i>RPE65</i>-associated inherited retinal dystrophy (<i>RPE65</i>-IRD) is an early-onset retinal degeneration. The aim of this study was to describe the clinical features and natural course of this disease in a Chinese patient cohort with <i>RPE65</i> biallelic variants. Thirty patients from 29 unrelated families with biallelic disease-causing <i>RPE65</i> variants underwent full ophthalmic examinations. Thirteen were followed up over time. An additional 57 Chinese cases from 49 families were retrieved from the literature to analyze the relationship between best-corrected visual acuity (BCVA) and age. Our 30 patients presented age-dependent phenotypic characteristics. Multiple white dots were a clinical feature of young patients, while maculopathy, epiretinal membrane, and bone spicules were common in adult patients. Among the 84 patients, BCVA declined with age in a nonlinear, positive-acceleration relationship (<i>p</i> < 0.001). All patients older than 40 years met the WHO standard for low vision. Longitudinal observation revealed a slower visual acuity loss in patients younger than 20 years than those in their third or fourth decade of life. Our study detailed the clinical features and natural course of disease in Chinese patients with <i>RPE65</i>-IRD. Our results indicated that these patients have a relatively stable BCVA in childhood and adolescence, but eyesight deteriorates rapidly in the third decade of life. These findings may facilitate the implementation of gene therapy in China.
format	article
author	Jie Shi Ke Xu Jian-Ping Hu Yue Xie Xin Zhang Xiao-Hui Zhang Zi-Bing Jin Yang Li
author_facet	Jie Shi Ke Xu Jian-Ping Hu Yue Xie Xin Zhang Xiao-Hui Zhang Zi-Bing Jin Yang Li
author_sort	Jie Shi
title	Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
title_short	Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
title_full	Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
title_fullStr	Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
title_full_unstemmed	Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
title_sort	clinical features and natural history in a cohort of chinese patients with rpe65-associated inherited retinal dystrophy
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/7a8413c6383c406b8451d0d6223f2287
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Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy

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