Overview
Retinal degeneration-nanophthalmos-glaucoma syndrome is an extremely rare inherited eye condition that combines three major eye problems. First, the eyes are unusually small (a condition called nanophthalmos), which means the eyeball is shorter than normal from front to back. Second, the retina — the light-sensitive layer at the back of the eye — gradually breaks down over time (retinal degeneration), leading to progressive vision loss. Third, the condition causes glaucoma, which is a buildup of pressure inside the eye that can damage the optic nerve and further threaten vision. Because the eyes are abnormally small, the internal structures are crowded together. This crowding makes it harder for fluid to drain properly from the eye, which contributes to the development of glaucoma. The retinal degeneration typically affects both eyes and can lead to night blindness, tunnel vision, and eventually significant vision impairment. Patients may also be very farsighted (hyperopic) due to the small size of their eyes. There is currently no cure for this syndrome. Treatment focuses on managing each component: lowering eye pressure with medications or surgery to protect against glaucoma damage, and supportive measures for vision loss caused by retinal degeneration. Regular monitoring by eye specialists is essential to preserve as much vision as possible for as long as possible. Low-vision aids and rehabilitation services can help patients maintain independence.
Also known as:
Key symptoms:
Unusually small eyesSevere farsightednessProgressive vision lossNight blindnessTunnel vision or loss of side visionIncreased eye pressure (glaucoma)Eye pain or headaches from high eye pressureDifficulty seeing in dim lightingBlurred or hazy visionGradual loss of central vision in later stages
Clinical phenotype terms (7)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventMembraneBlue: FDA approved
For use as an aid in ophthalmic surgery by staining the epiretinal membranes during ophthalmic surgical vitrectomy procedures, facilitating removal of the tissue
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableMembraneBlue
For use as an aid in ophthalmic surgery by staining the epiretinal membranes during ophthalmic surgical vitrectomy procedures, facilitating removal of the tissue
Clinical Trials
View all trials with filters →No actively recruiting trials found for Retinal degeneration-nanophthalmos-glaucoma syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Retinal degeneration-nanophthalmos-glaucoma 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 Retinal degeneration-nanophthalmos-glaucoma 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.How advanced is the retinal degeneration in my eyes right now, and how quickly might it progress?,What is my current eye pressure, and is my glaucoma well controlled?,What are the safest treatment options for glaucoma given that my eyes are unusually small?,Should I or my family members undergo genetic testing, and what would the results mean for us?,Are there any clinical trials or emerging therapies, such as gene therapy, that I might be eligible for?,What low-vision aids or rehabilitation services would you recommend for my current level of vision?,How often should I have my eyes checked, and what warning signs should prompt an urgent visit?
Common questions about Retinal degeneration-nanophthalmos-glaucoma syndrome
What is Retinal degeneration-nanophthalmos-glaucoma syndrome?
Retinal degeneration-nanophthalmos-glaucoma syndrome is an extremely rare inherited eye condition that combines three major eye problems. First, the eyes are unusually small (a condition called nanophthalmos), which means the eyeball is shorter than normal from front to back. Second, the retina — the light-sensitive layer at the back of the eye — gradually breaks down over time (retinal degeneration), leading to progressive vision loss. Third, the condition causes glaucoma, which is a buildup of pressure inside the eye that can damage the optic nerve and further threaten vision. Because the e
How is Retinal degeneration-nanophthalmos-glaucoma syndrome inherited?
Retinal degeneration-nanophthalmos-glaucoma syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Retinal degeneration-nanophthalmos-glaucoma syndrome typically begin?
Typical onset of Retinal degeneration-nanophthalmos-glaucoma syndrome is childhood. Age of onset can vary across affected individuals.
What treatment and support options exist for Retinal degeneration-nanophthalmos-glaucoma syndrome?
1 patient support program are currently tracked on UniteRare for Retinal degeneration-nanophthalmos-glaucoma syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.