Overview
Autosomal dominant optic atrophy and cataract (also known as ADOAC, or sometimes called Kjer disease with cataract) is a rare inherited eye condition that affects two important parts of the eye: the optic nerve and the lens. The optic nerve carries visual signals from the eye to the brain, and when it is damaged or wasting away (a process called atrophy), vision becomes blurry or reduced. A cataract is a clouding of the lens inside the eye, which also makes vision less clear. Together, these two problems can cause significant vision loss from a young age. Most people with this condition notice vision problems during childhood or early adulthood. The vision loss tends to be slowly progressive, meaning it gets worse over time rather than all at once. Color vision is often affected, and people may have difficulty seeing fine details. The severity can vary quite a bit from person to person, even within the same family. Currently, there is no cure for this condition. Treatment focuses on managing symptoms, protecting remaining vision, and helping people adapt to vision changes. This may include glasses, low vision aids, cataract surgery when needed, and regular monitoring by eye specialists. Early diagnosis is important so that the right support and monitoring can be put in place.
Key symptoms:
Gradual loss of central visionBlurry or hazy visionDifficulty seeing fine detailsProblems with color vision, especially distinguishing blue and yellowClouding of the lens (cataract)Reduced sharpness of vision (low visual acuity)Sensitivity to bright lightPale or washed-out appearance of the optic nerve on eye examDifficulty reading or recognizing faces
Clinical phenotype terms (35)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant optic atrophy and cataract.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant optic atrophy and cataract.
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 Autosomal dominant optic atrophy and cataract.
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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 specific gene change has been found in our family, and what does that mean for how severe the condition might be?,How quickly is the vision loss likely to progress, and how will we monitor for changes?,When should cataract surgery be considered, and what improvement can we realistically expect?,What low vision aids or services would you recommend for daily life and school or work?,Should other family members be tested, and what are the chances of passing this on to children?,Are there any clinical trials or research studies we should know about?,What signs should prompt us to come in sooner rather than waiting for a scheduled appointment?
Common questions about Autosomal dominant optic atrophy and cataract
What is Autosomal dominant optic atrophy and cataract?
Autosomal dominant optic atrophy and cataract (also known as ADOAC, or sometimes called Kjer disease with cataract) is a rare inherited eye condition that affects two important parts of the eye: the optic nerve and the lens. The optic nerve carries visual signals from the eye to the brain, and when it is damaged or wasting away (a process called atrophy), vision becomes blurry or reduced. A cataract is a clouding of the lens inside the eye, which also makes vision less clear. Together, these two problems can cause significant vision loss from a young age. Most people with this condition notic
How is Autosomal dominant optic atrophy and cataract inherited?
Autosomal dominant optic atrophy and cataract follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant optic atrophy and cataract typically begin?
Typical onset of Autosomal dominant optic atrophy and cataract is childhood. Age of onset can vary across affected individuals.