Shengjuan Zhang1,2, Lifei Wang2, Zhiqiang Liu2, Huijing Sun2, Qian Li1, Chen Xing2, Zhe Xiao2, Xiaoyan Peng3. 1. Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Lane, Chongnei Street, 100005, Beijing, People's Republic of China. 2. Hebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye Hospital, 399 East Quanbei Street, Xingtai, 054001, Hebei, People's Republic of China. 3. Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Lane, Chongnei Street, 100005, Beijing, People's Republic of China. 74000041@ccmu.edu.cn.
Abstract
BACKGROUND: Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1-5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression. METHODS: FFA images were collected for 12 patients with BCD who visited our clinic twice or more over a 5-year period. Peripheral venous blood was collected to identify the pathogenic gene related to the clinical phenotype. RESULTS: We observed two types in FFA images of patients with BCD. Type 1 showed retinal pigment epithelium (RPE) atrophy in the macular area, followed by choriocapillaris atrophy and the subsequent appearance of RPE atrophy appeared at the peripheral retina. Type 2 showed RPE atrophy at the posterior pole and peripheral retina, followed by choriocapillaris atrophy around the macula and along the superior and inferior vascular arcades and the nasal side of the optic disc. The posterior and peripheral lesions of both type 1 and type 2 BCD subsequently extended to the mid-periphery; finally, all the RPEs and choriocapillaris atrophied, exposing the choroid great vessels, but type 2 macular RPE atrophy could last longer. CONCLUSIONS: The characterization of two different types of BCD development provides a better understanding of the phenotype and the progression of the disease for a precise prognosis and prediction of pathogenesis.
BACKGROUND:Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1-5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression. METHODS: FFA images were collected for 12 patients with BCD who visited our clinic twice or more over a 5-year period. Peripheral venous blood was collected to identify the pathogenic gene related to the clinical phenotype. RESULTS: We observed two types in FFA images of patients with BCD. Type 1 showed retinal pigment epithelium (RPE) atrophy in the macular area, followed by choriocapillaris atrophy and the subsequent appearance of RPE atrophy appeared at the peripheral retina. Type 2 showed RPE atrophy at the posterior pole and peripheral retina, followed by choriocapillaris atrophy around the macula and along the superior and inferior vascular arcades and the nasal side of the optic disc. The posterior and peripheral lesions of both type 1 and type 2 BCD subsequently extended to the mid-periphery; finally, all the RPEs and choriocapillaris atrophied, exposing the choroid great vessels, but type 2 macular RPE atrophy could last longer. CONCLUSIONS: The characterization of two different types of BCD development provides a better understanding of the phenotype and the progression of the disease for a precise prognosis and prediction of pathogenesis.