Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.

ABSTRACT: Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex-polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel-Lindal (VHL) gene. For frequency calculation, our series was combined with three large cohorts of East Asian descent through a literature review. Results: The Von Hippel-Lindal (VHL) syndrome was excluded in fifteen patients (median age: 32.00 years) with unilateral solitary RH. Thirty-six patients of younger ages (median: 22.00 years, p = 0.008, Mann-Whitney test) con

SUBMITTER: Gao L 

PROVIDER: S-EPMC11431690 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature