High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.

Conclusions: Stickler syndrome has several subtypes with variable clinical features. Therefore, predicting the genetic locus of the disease based on clinical characteristics is challenging. We present a rarely described intronic mutation in COL2A1. Genetic testing may aid in the early diagnosis of Stickler syndrome, which is important for genetic counselling, proper clinical management, and improved prognosis. PMID: 33295219 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33295219?dopt=Abstract

Source: Current Eye Research - December 9, 2020 Category: Opthalmology Authors: Rossenwasser-Weiss S, Orenstein N, Zahavi A, Goldenberg-Cohen N Tags: Curr Eye Res Source Type: research

More News: Genetics | Myopia (short sighted) | Opthalmology | Strabismus (squint)