LRAT
Disease Category: autosomal recessive
Patient Population: <100
Known Clinical Trials: 3 complete studies
Treatment Options: clinical trial of drug intervention
Strategies to Preserve Eye Health:
Institution(s) Conducting Research: Wilmer Eye Institute, Casey Eye Institute, Hospital for Sick Children, Ophthalmology and Vision Sciences, Montreal Children's Hospital, Moorfield Eye Institute, Rotterdam Ophthalmic Institute, Jules Gonin Eye Hospital, Glostrup Hospital & National Eye Clinic, Scheie Eye Institute, Chicago LightHouse
A FACE OF RP
BRIEF DESCRIPTION
Mutations in the lecithin retinol acyltransferase (LRAT) gene can cause juvenile retinitis pigmentosa (RP) and other retinal dystrophies. LRAT is an enzyme that plays a key role in the retinoid cycle, which is essential for normal vision. LRAT catalyzes the formation of fatty acid retinyl esters, which are a crucial step in the retinoid cycle. In the eye, LRAT is expressed in the retinal pigmented epithelium (RPE). When LRAT function is impaired, it leads to a lack of functional chromophore production and eventual retinal degeneration.
Other retinal dystrophies caused by mutations in genes that affect the retinoid cycle include Leber congenital amaurosis (LCA) and retinitis punctata albescens (RPA).
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