LRAT
- Disease Category
- autosomal recessive
- Patient Population
- <100
- Clinical Trials
- 3 complete studies
- 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
Where things stand · Treatment
Treatment options
clinical trial of drug intervention
Where things stand · Clinical trials
Studies that may be relevant to review
Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.
Find clinical trialsOpens the Clinical Trials Finder with this gene — you can change or remove it.Brief description
A clear, everyday-language overview of this gene.
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).
Support, accessibility and family guidance(the same for every gene)
This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.
- Ask before helping
- People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
- Low-vision rehabilitation
- Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
- Accessible technology
- Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
- School and work
- Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
- Emotional and community support
- A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
- Genetic counselling
- A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.
Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.