Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report

BMC Ophthalmology

卷:23

Case Report

Jie Shi¹  Yang Li¹  Tengyang Sun¹  Xin Zhang¹  Ke Xu¹ 

[1] Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Hougou Lane 17, Chong Nei Street, 100730, Beijing, China;

关键词: Best vitelliform macular dystrophy;    Cataract;    BEST1;    CRYBB2;    Case report;   

DOI  :  10.1186/s12886-023-02915-3

 received in 2022-09-10, accepted in 2023-04-08,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundBest vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with cataracts and ocular malformations. We reported a case with a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy.Case presentationA six-year-old girl manifested photophobia and a poor visual behavior. A thorough ophthalmic examination revealed the patient to have bilateral microphthalmia, microcornea, congenital cataract, and Best vitelliform macular dystrophy (BVMD). Whole exome sequencing (WES) identified one variant in the BEST1 and one variant in CRYBB2 genes: c.218 T > G p.(Ile73Arg) and c.479G > C p.(Arg160Pro). The first variant was inherited from the proband’s father, who was diagnosed with subclinical BVMD, while the second was a de novo variant. A minigene assay showed that c.218 T > G in BEST1 did not affect pre-mRNA splicing.ConclusionsThis case suggests that the complex ocular phenotype comprising BVMD and congenital cataract with microphthalmia cannot be explained by variation in one gene but is caused by variants in BEST1 and CRYBB2. This case highlights the importance of general clinical evaluation and comprehensive genetic testing for diagnosing complex eye diseases.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

Fig. 1

40507_2023_167_Article_IEq209.gif

40507_2023_167_Article_IEq196.gif

Fig. 1