Overview
Congenital optic disc excavation is a rare eye condition that a person is born with, where the optic disc — the spot at the back of the eye where the optic nerve connects — has an abnormally deep, cup-like hollow or pit in it. The optic nerve carries visual information from the eye to the brain, so when this structure is malformed, it can affect how well a person sees. This condition is sometimes called congenital optic nerve pit or optic disc pit, depending on the exact shape and location of the excavation. People with this condition may experience reduced vision, blind spots, or distorted vision, especially if fluid builds up under the retina (the light-sensitive layer at the back of the eye). Some people have very mild symptoms and may not notice problems until an eye exam reveals the abnormality. Others may have more significant vision loss, particularly if complications like retinal detachment or macular fluid develop over time. Treatment depends on whether complications are present. If the optic disc excavation is not causing problems, regular monitoring by an eye specialist is usually recommended. When fluid or retinal detachment occurs, treatments such as laser therapy, gas injection into the eye, or surgery may be used to protect vision. There is no cure for the underlying structural abnormality, but managing complications can help preserve sight.
Key symptoms:
Blurred or reduced vision in one or both eyesBlind spots in the field of visionDistorted or wavy visionFluid buildup under the retina (macular detachment)Retinal detachmentDifficulty seeing fine detailsAsymmetry in vision between the two eyesAbnormal appearance of the optic disc found on eye exam
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital optic disc excavation.
View clinical trials →Clinical Trials
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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 Congenital optic disc excavation.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 deep is the excavation in my optic disc, and does it affect both eyes?,What is my risk of developing fluid under the retina or retinal detachment?,How often should I have eye exams and OCT scans to monitor for complications?,Should I have genetic testing, and could this condition be passed on to my children?,What warning signs should make me seek emergency eye care right away?,Are there any activity restrictions I should follow to protect my vision?,If I develop complications, what treatment options are available and how successful are they?
Common questions about Congenital optic disc excavation
What is Congenital optic disc excavation?
Congenital optic disc excavation is a rare eye condition that a person is born with, where the optic disc — the spot at the back of the eye where the optic nerve connects — has an abnormally deep, cup-like hollow or pit in it. The optic nerve carries visual information from the eye to the brain, so when this structure is malformed, it can affect how well a person sees. This condition is sometimes called congenital optic nerve pit or optic disc pit, depending on the exact shape and location of the excavation. People with this condition may experience reduced vision, blind spots, or distorted v
At what age does Congenital optic disc excavation typically begin?
Typical onset of Congenital optic disc excavation is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital optic disc excavation?
1 specialists and care centers treating Congenital optic disc excavation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.