Living with Occult macular dystrophy
An inherited eye condition in which vision slowly declines in both eyes because of problems only in the macula, with a normal-looking retina.
Understanding Occult macular dystrophy
Vision slowly gets less sharp in both eyes. The problem is limited to the macula, and the back of the eye looks normal on routine exams. Special electrical tests of the retina (electroretinograms) show a clear weakening. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow decrease in sharpness of vision
- Macular dystrophy
- Abnormal results on a multifocal electroretinogram
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 RP1L1 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
Changes in the RP1L1 gene cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: occult macular dystrophy, susceptibility to; ocmd; ocmd - occult macular dystrophy; omd; omd - occult macular dystrophy
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 Occult macular dystrophy.
Explore research for Occult macular dystrophy
Explore actively recruiting Occult macular dystrophy studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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