FAM161A
- Disease Category
- autosomal recessive
- Patient Population
- —
- Clinical Trials
- Check clinicaltrials.gov for updates
- Institution(s) Conducting Research
- —
Where things stand · Treatment
Treatment options
None known
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.
FAM161A is a protein that is a component of the cilia-basal body complex and is involved in microtubule-based cellular processes in the retina. It's expressed mainly in the retina and is localized to the connecting cilium, basal body, and adjacent centriole in mammalian photoreceptors. Mutations in the FAM161A gene cause RP-28, which is characterized by disorganized cilia, outer segment collapses, and vision impairment. An eye doctor can diagnose RP with an ophthalmoscope, which involves putting drops in your eyes to widen your pupil so they can examine your retina. There's no cure for RP, but low vision aids, rehabilitation programs, and vitamins and supplements can help. Defects in FAM161A are a common cause of hereditary blindness in Israel and the Palestinian territories, but are rare in Germany.
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.