Coats disease-like retinopathy and inherited metabolic disorders or syndromes
10.3760/cma.j.issn.1005-1015.2017.01.030
- VernacularTitle:与遗传代谢性疾病及综合征相关的Coats样视网膜病变的研究现状
- Author:
Juan ZHANG
;
Xin HUANG
- Keywords:
Retinal telangiectasis;
Genetic diseases,inborn;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2017;33(1):93-96
- CountryChina
- Language:Chinese
-
Abstract:
Coats disease is a relatively rare and idiopathic disorder characterized by retinal telangiectasia and massive intra-retinal and (or) sub-retinal lipid accumulation, resulting in complications including retinal detachment and neovascular glaucoma. Previous reports have revealed that Coats disease can be associated with other disorders, especially some inherited diseases, such as retinitis pigmentosa (RP) and facioscapulohumeral muscular dystrophy (FSHD). Coats disease associated with other inherited disorders is generally called Coats-like retinopathy, which has some unique features that differs from the classic Coats disease, for example there is no sex and age preference, more bilateral cases, more severe cases and more genetic factors involved. Patients of Coats-like retinopathy with RP and FSHD may have mutations in Crumbs homologue gene 1 and D4Z4 genes.
