Department Of Ophthalmology, Kathmandu Medical College and Teaching Hospital, Kathmandu, Nepal.
Vitreoretina Department, Tilganga Institute of Ophthalmology, Kathmandu, Nepal.
J Nepal Health Res Counc. 2020 Apr 20;18(1):88-92. doi: 10.33314/jnhrc.v18i1.2368.
Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life. The aim of this study were to find out the demographic characteristics and disease pattern of inherited retinal dystrophies in subjects attending retina outpatient department in a tertiary care center.
An observational study among twenty-six participants diagnosed as macular dystrophy visiting a tertiary care centre in Nepal, during January 2018 to June 2018 were included in the study. Detailed history, slit lamp examination, dilated fundus examination, coloured fundus photography, full field electroretinogram, multifocal electroretinogram, automated visual field and colour vision were done.
A total of 52 eyes of 26 subjects were diagnosed with macular dystrophy. The male to female ratio was 1:1. The mean age of presentation was 28.38 years. Most common symptom was blurring of vision seen in 96.15%.The mean visual acuity was 0.67 log mar units in right eye and 0.71 log mar units in the left eye. The most common macular dystrophy was cone dystrophy followed by adult vitelliform macular dystrophy and Stargardts dystrophy.
Cone dystrophy is the most common followed by Stargardt's disease and adult vitelliform macular dystrophy. Most presented in the first two decades of life and the most common presenting symptom was blurring of vision.
遗传性黄斑营养不良是一组疾病，其特征为双侧中心视力丧失，伴有黄斑对称性异常，通常在生命的头二十年出现。本研究旨在了解在尼泊尔一家三级保健中心的视网膜门诊就诊的遗传性视网膜营养不良患者的人口统计学特征和疾病模式。
在 2018 年 1 月至 2018 年 6 月期间，对在尼泊尔一家三级保健中心诊断为黄斑营养不良的 26 名参与者进行了一项观察性研究。详细的病史、裂隙灯检查、散瞳眼底检查、彩色眼底照相、全视野视网膜电图、多焦视网膜电图、自动视野和色觉检查。
共诊断出 52 只眼 26 例黄斑营养不良。男女比例为 1:1。就诊时的平均年龄为 28.38 岁。最常见的症状是视力模糊，占 96.15%。右眼平均视力为 0.67 logMAR 单位，左眼为 0.71 logMAR 单位。最常见的黄斑营养不良是 cones dystrophy，其次是成人型 vitelliform 黄斑营养不良和 Stargardt 病。
cones dystrophy 是最常见的，其次是 Stargardt 病和成人型 vitelliform 黄斑营养不良。大多数患者在生命的头二十年出现，最常见的症状是视力模糊。
