Living with Retinal macular dystrophy type 2
A rare genetic eye condition that slowly affects the center of the retina and may mildly lower sharp vision.
Understanding Retinal macular dystrophy type 2
It causes a slowly worsening bull's-eye pattern in the macula. In most people this brings a mild drop in sharp vision and small blind spots in the center. Usually only the central retina is involved. Rare features include an empty sella turcica, a weaker sense of smell, kidney infections, blood in urine, and repeated miscarriages. It starts in the teen years or adulthood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Bull's-eye pattern in the macula
- Mild decrease in sharp vision
- Small blind spots in the center of vision
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 PROM1 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
It is caused by changes in the PROM1 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: bull's eye macular dystrophy; macular dystrophy, retinal, type 2; mcdr2; mcdr2 - retinal macular dystrophy type 2
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 Retinal macular dystrophy type 2.
Explore research for Retinal macular dystrophy type 2
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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