Living with Isolated microphthalmia 5
A genetic eye condition with small eyes, retinal changes, and trouble seeing at night that usually begins in adulthood.
Understanding Isolated microphthalmia 5
Also called microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome. It includes small eyes, retinal damage like retinitis pigmentosa, splitting in the center of the retina (foveoschisis), and deposits on the optic nerve. People are very farsighted. Night vision trouble and reduced vision usually start in adulthood and get worse. Some have acute-angle glaucoma.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller than usual eyeball (microphthalmia)
- Less clear vision
- Night blindness
- Severe farsightedness
- Splitting in the center of the retina (foveoschisis)
- Deposits on the optic nerve (optic disc drusen)
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 MFRP 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 MFRP gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: isolated microphthalmia caused by mutation in mfrp; isolated microphthalmia type 5; mcop5; mfrp isolated microphthalmia; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen 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 Isolated microphthalmia 5.
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