Overview
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a very rare inherited eye condition that affects multiple parts of the eye at the same time. 'Microphthalmia' means one or both eyes are unusually small. 'Retinitis pigmentosa' refers to a gradual breakdown of the light-sensitive cells at the back of the eye (the retina), which causes progressive vision loss over time. 'Foveoschisis' means there is a splitting of layers in the central part of the retina (the fovea), which is responsible for sharp, detailed vision. 'Optic disc drusen' are small calcium deposits that build up near the optic nerve, which can put pressure on it and affect vision. People with this syndrome typically experience a combination of reduced vision from birth or early childhood, difficulty seeing in dim light or at night, loss of side (peripheral) vision, and problems with central vision. Because several parts of the eye are affected at once, vision loss can be more significant than in conditions that affect only one part of the eye. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, protecting remaining vision, and supporting quality of life. Low vision aids, regular monitoring by eye specialists, and genetic counseling are important parts of care. Research into gene therapies for related retinal conditions may eventually offer hope for people with this syndrome.
Key symptoms:
Unusually small eyes (one or both eyes)Gradual loss of side (peripheral) visionDifficulty seeing in low light or at night (night blindness)Blurred or reduced central visionSplitting of retinal layers in the central vision area (foveoschisis)Calcium deposits near the optic nerve (optic disc drusen)Sensitivity to bright lightTunnel vision as the disease progressesReduced overall visual sharpnessPossible color vision problems
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which parts of my (or my child's) vision are most at risk, and how quickly might they change?,Should I have genetic testing, and what does a positive result mean for other family members?,Are there any clinical trials or gene therapy studies I should know about?,What low vision aids or assistive technologies would help most right now?,Are there any lifestyle changes or supplements that could help protect my remaining vision?,How often should I have eye check-ups, and what signs should prompt me to seek urgent care?,What support services or patient organizations are available for people with this condition?
Common questions about Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
What is Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome?
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a very rare inherited eye condition that affects multiple parts of the eye at the same time. 'Microphthalmia' means one or both eyes are unusually small. 'Retinitis pigmentosa' refers to a gradual breakdown of the light-sensitive cells at the back of the eye (the retina), which causes progressive vision loss over time. 'Foveoschisis' means there is a splitting of layers in the central part of the retina (the fovea), which is responsible for sharp, detailed vision. 'Optic disc drusen' are small calcium deposits that
How is Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome inherited?
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome typically begin?
Typical onset of Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is childhood. Age of onset can vary across affected individuals.