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- Title
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
- Authors
Li, Huajin; Wei, Xing; Wu, Shijing; Zhu, Tian; Sun, Zixi; Li, Hui; Han, Xiaoxu; Zou, Xuan; Yao, Fengxia; Sui, Ruifang
- Abstract
Purpose: To investigate the clinical and genetic characteristics for a large cohort of Chinese patients with Bietti crystalline retinopathy (BCR). Methods: A total of 208 Chinese BCR patients from 175 families were recruited. Comprehensive clinical evaluations and genetic analysis were performed. Genotype-phenotype correlations were evaluated through statistical analysis. Results: The patients' median age was 37 years (range, 20–76 years). The median best corrected visual acuity (BCVA) was 0.8 LogMAR unit (range, 2.8 to −0.12). A significant decline of BCVA was revealed in patients over 40 years old (P<0.001). Two clinical types were observed: peripheral type (type P) and central type (type C). Significantly more type C patients had a worse central visual acuity, but a more preserved retinal function (P<0.05). Molecular screening detected biallelic CYP4V2 pathogenic variants in 98.3% (172/175) of the families, including 19 novel ones. The most frequent pathogenic variant was c.802-8_810del17insGC, with the allele frequency of 55.7% (195/350), followed by c.992A>C (28/350, 8%) and c.1091-2A>G (23/350, 6.6%). BCR patients with one c.802-8_810del17insGC and one truncating variant (IVS6-8/Tru) had BCVA>1.3 LogMAR unit (Snellen equivalent<20/400) at a younger age than those with homozygous c.802-8_810del17insGC variants (homo IVS6-8) (P=0.031). Conclusions: BCR patients preserved relatively good vision before 40 years old. Two distinct clinical types of BCR were observed. BCR patients with IVS6-8/Tru had an earlier decline in visual acuity than those with homo IVS6-8. Our findings enhance the knowledge of BCR and will be helpful in patient selection for gene therapy.
- Subjects
CHINESE people; VISUAL acuity; PATIENT selection; GENE therapy; GENE frequency
- Publication
Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, Vol 262, Issue 1, p337
- ISSN
0721-832X
- Publication type
Article
- DOI
10.1007/s00417-023-06178-y