Tobin B.T. Thuma , Rebecca A. Procopio , Hiram J. Jimenez , Kammi B. Gunton , Jose S. Pulido
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Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases
Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term “hypomorphic” in the scientific literature. We searched for all hypomorphic variants reported to cause IRDs and ocular disorders. We also discuss the presence of hypomorphic variants in the patient population of our ocular genetics department over the past decade. We propose that standardized criteria should be adopted for use of the term “hypomorphic” to describe gene variants to improve genetic counseling and patient care outcomes.
期刊介绍:
Survey of Ophthalmology is a clinically oriented review journal designed to keep ophthalmologists up to date. Comprehensive major review articles, written by experts and stringently refereed, integrate the literature on subjects selected for their clinical importance. Survey also includes feature articles, section reviews, book reviews, and abstracts.