Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy  

作　　者：MA Kai YANG Xiu-fen HAN Cui ZHANG Ning XU Jun LIU Shou-bin LU Hai Torkel Snellingen WANG Ning-li LIU Ning-pu 

机构地区：[1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing 100730, China [2]Institute of Orbital Diseases, Armed Police General Hospital, Beiiin~ 100039, China [3]Department of Ophthalmology, Tsinghua University First Hospital, Beijing 100016, China [4]Sekwa Eye Hospital, Beijing 100088, China

出　　处：《Chinese Medical Journal》2009年第22期2686-2690,共5页中华医学杂志（英文版）

基　　金：This work was supported by grants from Beijing Natural Science Foundation （No. 7072020） and National Natural Science Foundation of China （No. 30772378）.

摘　　要：Background A Chinese family with autosomal dominant central areolar choroidal dystrophy （CACD） was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage analysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography, fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months. Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted. Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD. The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes （STGD4, RCD1, peripherin/RDS, GUCA 1A, RIMS1, UNC119, GUCY2D, and AIPL1） and two genetic loci （4p15.2-16.3, and 17p13） were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings Of this Chinese family with CACD shared similarities with previously reportedBackground A Chinese family with autosomal dominant central areolar choroidal dystrophy （CACD） was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage analysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography, fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months. Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted. Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD. The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes （STGD4, RCD1, peripherin/RDS, GUCA 1A, RIMS1, UNC119, GUCY2D, and AIPL1） and two genetic loci （4p15.2-16.3, and 17p13） were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings Of this Chinese family with CACD shared similarities with previously reported

关 键 词：central areolar choroidal dystrophy clinical features linkage analysis CHINESE 

分 类 号：R4[医药卫生—临床医学]