PDF(Pubmed)
Abstract：
Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. HRD presents a high degree of clinical and genetic heterogeneity. We determined genotypic and phenotypic correlations, in the natural course of clinical observation, of unrelated progenitors of HRD associated with ABCA4.
To analyze the relationship between the phenotypes and genotypes of ABCA4 variants.
A retrospective clinical study of five cases from the ophthalmology department of the People\'s Hospital of Wuhan University from January 2019 to October 2020 was conducted. We tested for ABCA4 variants in the probands. We performed eye tests, including the best-corrected visual acuity, super-wide fundus photography and spontaneous fluorescence photography, optical coherence tomography, and electrophysiological examination.
Disease-causing variants were identified in the ABCA4 genes of all patients. Among these, seven ABCA4 variants were novel. All patients were sporadic cases; only one patient had parents who were relatives, and the other four patients were offspring of unrelated parents. Two patients presented with Stargardt disease, mainly with macular lesions, two presented with retinitis pigmentosa (cone-rod type), and one presented with cone dystrophy. The visual acuity and visual field of the five patients showed varying degrees of deterioration and impairment.
The same ABCA4 mutation can lead to different clinical phenotypes, and there is variation in the degree of damage to vision, visual field, and electrophysiology among different clinical phenotypes. Clinicians must differentiate between and diagnose pathologies resulting from this mutation.
To analyze the relationship between the phenotypes and genotypes of ABCA4 variants.
A retrospective clinical study of five cases from the ophthalmology department of the People\'s Hospital of Wuhan University from January 2019 to October 2020 was conducted. We tested for ABCA4 variants in the probands. We performed eye tests, including the best-corrected visual acuity, super-wide fundus photography and spontaneous fluorescence photography, optical coherence tomography, and electrophysiological examination.
Disease-causing variants were identified in the ABCA4 genes of all patients. Among these, seven ABCA4 variants were novel. All patients were sporadic cases; only one patient had parents who were relatives, and the other four patients were offspring of unrelated parents. Two patients presented with Stargardt disease, mainly with macular lesions, two presented with retinitis pigmentosa (cone-rod type), and one presented with cone dystrophy. The visual acuity and visual field of the five patients showed varying degrees of deterioration and impairment.
The same ABCA4 mutation can lead to different clinical phenotypes, and there is variation in the degree of damage to vision, visual field, and electrophysiology among different clinical phenotypes. Clinicians must differentiate between and diagnose pathologies resulting from this mutation.
摘要：
遗传性视网膜变性（HRD）是一种不可逆的眼病，严重时会导致失明。它最常见的是由ABCA4基因的变异引起。HRD表现出高度的临床和遗传异质性。我们确定了基因型和表型的相关性，在自然的临床观察过程中，与ABCA4相关的HRD的无关祖细胞。
分析ABCA4变异体表型与基因型的关系。
回顾性分析2019年1月至2020年10月武汉大学人民医院眼科5例患者的临床资料。我们在先证中测试了ABCA4变体。我们做了眼科检查,包括最佳矫正视力,超宽眼底摄影和自发荧光摄影，光学相干层析成像，和电生理检查。
在所有患者的ABCA4基因中鉴定了致病变异。其中,七个ABCA4变体是新的。所有患者均为散发病例；只有一名患者的父母是亲戚，另外4名患者是父母无关的后代。两名患者患有Stargardt病,主要有黄斑病变，两个呈现为色素性视网膜炎（锥杆型），还有一个出现了视锥细胞营养不良.5例患者的视力和视野均有不同程度的恶化和损害。
相同的ABCA4突变可导致不同的临床表型，视力受损程度有差异，视野,不同临床表型之间的电生理。临床医生必须区分和诊断由这种突变引起的病理。
分析ABCA4变异体表型与基因型的关系。
回顾性分析2019年1月至2020年10月武汉大学人民医院眼科5例患者的临床资料。我们在先证中测试了ABCA4变体。我们做了眼科检查,包括最佳矫正视力,超宽眼底摄影和自发荧光摄影，光学相干层析成像，和电生理检查。
在所有患者的ABCA4基因中鉴定了致病变异。其中,七个ABCA4变体是新的。所有患者均为散发病例；只有一名患者的父母是亲戚，另外4名患者是父母无关的后代。两名患者患有Stargardt病,主要有黄斑病变，两个呈现为色素性视网膜炎（锥杆型），还有一个出现了视锥细胞营养不良.5例患者的视力和视野均有不同程度的恶化和损害。
相同的ABCA4突变可导致不同的临床表型，视力受损程度有差异，视野,不同临床表型之间的电生理。临床医生必须区分和诊断由这种突变引起的病理。
