Overview
Rare genetic glaucoma refers to a group of uncommon inherited eye conditions where the pressure inside the eye becomes too high, which can damage the optic nerve and lead to vision loss. This Orphanet entry (183604) is now marked as obsolete, meaning it has been retired and replaced by more specific disease classifications within the rare genetic glaucoma family. These conditions include various forms of glaucoma that run in families, such as primary congenital glaucoma, juvenile open-angle glaucoma, and other inherited forms of the disease. Glaucoma is sometimes called the 'silent thief of sight' because it often has no early symptoms until significant vision loss has already occurred. In genetic forms, the disease may appear earlier in life than typical age-related glaucoma. Symptoms can include elevated eye pressure, cloudy or enlarged corneas (especially in infants), eye pain, halos around lights, and progressive loss of peripheral (side) vision. Treatment for genetic forms of glaucoma typically involves eye drops to lower eye pressure, laser treatments, or surgery. Early detection through regular eye exams is critical, especially for family members of affected individuals. While there is no cure, timely treatment can slow or prevent further vision loss. Because this is an obsolete grouping, patients should work with their doctors to identify the specific type of genetic glaucoma they have, as treatment and prognosis can vary depending on the exact diagnosis.
Key symptoms:
High pressure inside the eyeGradual loss of side (peripheral) visionCloudy or hazy corneas in infantsEnlarged eyes in babiesExcessive tearing in infantsSensitivity to lightEye pain or headacheSeeing halos around lightsRedness of the eyeBlurred visionTunnel vision in advanced stagesOptic nerve damage visible on eye exam
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Rare genetic glaucoma.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Rare genetic glaucoma.
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 OBSOLETE: Rare genetic glaucoma.
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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.What specific type of genetic glaucoma do I or my child have, and which gene is involved?,How advanced is the optic nerve damage, and what is the current eye pressure?,What treatment options are best for this specific type of glaucoma?,Should other family members be screened for this condition?,How often will follow-up eye exams be needed?,Are there any clinical trials or new treatments being studied for this type of glaucoma?,What signs should I watch for that would indicate the condition is getting worse?
Common questions about OBSOLETE: Rare genetic glaucoma
What is OBSOLETE: Rare genetic glaucoma?
Rare genetic glaucoma refers to a group of uncommon inherited eye conditions where the pressure inside the eye becomes too high, which can damage the optic nerve and lead to vision loss. This Orphanet entry (183604) is now marked as obsolete, meaning it has been retired and replaced by more specific disease classifications within the rare genetic glaucoma family. These conditions include various forms of glaucoma that run in families, such as primary congenital glaucoma, juvenile open-angle glaucoma, and other inherited forms of the disease. Glaucoma is sometimes called the 'silent thief of s