Living with MRCS syndrome
A rare inherited eye condition with small corneas, a retinal disease causing night blindness, cataracts, and reduced vision.
Understanding MRCS syndrome
It is marked by small corneas (microcornea), rod-cone dystrophy (a breakdown of light-sensing cells in the retina), cataracts, and a bulge at the back of the eye, without other body-wide features. Night blindness is usually the first sign. Nystagmus, eyes that turn, astigmatism, and a type of glaucoma can also occur. Vision can worsen over time because of cataracts. It starts in childhood.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Small corneas (microcornea)
- Night blindness
- Cataracts
- Rod-cone dystrophy of the retina
- Rapid, rhythmic eye movements (nystagmus)
- Reduced vision over time
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in BEST1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the BEST1 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome; microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome; mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with MRCS syndrome.
Explore research for MRCS syndrome
Explore actively recruiting MRCS syndrome studies with HealthSpark.
Find actively recruiting studies for MRCS syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting MRCS syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for MRCS syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your MRCS syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.