MERTK
- Disease Category
- autosomal recessive
- Patient Population
- —
- Clinical Trials
- Check ClinicalTrials.gov for updates
- Institution(s) Conducting Research
- —
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.
MERTK retinitis pigmentosa is caused by mutations in the MERTK gene. A mutation in the MERTK gene reduces the ability of retinal pigment epithelial (RPE) cells to remove shed outer segments. This leads to a buildup of debris that separates the photoreceptors from the RPE cells, causing them to degenerate. RP is a hereditary retinal dystrophy that causes progressive vision loss. Symptoms of MERTK retinitis pigmentosa include difficulty seeing in the dark, progressive loss of peripheral vision, progressive loss of central vision, reduced vision, constricted visual fields, and early macular atrophy. The RPE cells play a critical role in photoreceptor homeostasis. When the RPE cells are dysfunctional, the photoreceptors degenerate and die, leading to vision loss. Treatments for this gene mutation are under investigation.
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.