Research progress on the correlation between genotypes and phenotypes of nanophthalmos
10.3760/cma.j.cn115989-20250116-00016
- VernacularTitle:真性小眼球基因型与表型关联性研究进展
- Author:
Yuxiao FU
1
;
Jing TAO
;
Xuwen WANG
Author Information
1. 中国医学科学院/北京协和医学院医学信息研究所，北京 100020
- Publication Type:Journal Article
- Keywords:
Nanophthalmos;
Genotype;
Phenotype
- From:
Chinese Journal of Experimental Ophthalmology
2025;43(7):656-663
- CountryChina
- Language:Chinese
-
Abstract:
Nanophthalmos (NNO) is a hereditary, congenital, ocular developmental disorder characterized by shortening of the entire eyeball.It has a low incidence worldwide and is considered a rare disease.Genetic modes of nanophthalmos include autosomal dominant and recessive inheritance, and sporadic cases have also been reported.Currently, at least six genes, including PRSS56, MFRP, TMEM98, MYRF, CRB1 and BEST1, have been reported to be associated with the onset of this disease.Common pathological phenotypes include short axial length, high hyperopia, and a high tendency to be complicated by angle-closure glaucoma and uveal effusion syndrome, etc.Different NNO genotypes show significant differences in clinical phenotypes.Studies on the correlation between NNO genotypes and phenotypes have provided an important basis for early clinical intervention.However, due to the limitated sample size of rare diseases, existing studies mainly focus on exploring the variant sites of different genotypes and the clinical phenotypes of patients.It is difficult to form a discussion on the overall correlation between the phenotypes and genotypes of NNO.This article collects and sorts out the research reports on NNO from 2010 to 2024, aiming to review the research progress on the correlation between genotypes and phenotypes of NNO from aspects such as gene mutation types and regional populations, in order to improve the understanding of NNO and provide more ideas and theoretical basis for studying its occurrence and development as well as gene therapy.
