Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography
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...
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doaj-bb7486e54a1547818713aa743a0ef3252021-05-30T11:24:33ZengBMCBMC Ophthalmology1471-24152021-05-012111910.1186/s12886-021-01999-zObservation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiographyShengjuan Zhang0Lifei Wang1Zhiqiang Liu2Huijing Sun3Qian Li4Chen Xing5Zhe Xiao6Xiaoyan Peng7Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical UniversityHebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye HospitalHebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye HospitalHebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye HospitalBeijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical UniversityHebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye HospitalHebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye HospitalBeijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical UniversityAbstract 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.https://doi.org/10.1186/s12886-021-01999-zBietti crystalline dystrophyDisease developmentFundus fluorescein angiography |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Shengjuan Zhang Lifei Wang Zhiqiang Liu Huijing Sun Qian Li Chen Xing Zhe Xiao Xiaoyan Peng |
spellingShingle |
Shengjuan Zhang Lifei Wang Zhiqiang Liu Huijing Sun Qian Li Chen Xing Zhe Xiao Xiaoyan Peng Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography BMC Ophthalmology Bietti crystalline dystrophy Disease development Fundus fluorescein angiography |
author_facet |
Shengjuan Zhang Lifei Wang Zhiqiang Liu Huijing Sun Qian Li Chen Xing Zhe Xiao Xiaoyan Peng |
author_sort |
Shengjuan Zhang |
title |
Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography |
title_short |
Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography |
title_full |
Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography |
title_fullStr |
Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography |
title_full_unstemmed |
Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography |
title_sort |
observation of the characteristics of the natural course of bietti crystalline dystrophy by fundus fluorescein angiography |
publisher |
BMC |
series |
BMC Ophthalmology |
issn |
1471-2415 |
publishDate |
2021-05-01 |
description |
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. |
topic |
Bietti crystalline dystrophy Disease development Fundus fluorescein angiography |
url |
https://doi.org/10.1186/s12886-021-01999-z |
work_keys_str_mv |
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