Overview
Ocular albinism with congenital sensorineural deafness is an extremely rare genetic condition that combines two main problems: reduced pigment (color) in the eyes and hearing loss present from birth. The eye findings are similar to those seen in ocular albinism, meaning the iris (colored part of the eye) and the retina (light-sensing layer at the back of the eye) have less pigment than normal. This leads to problems with vision, including reduced sharpness of sight, sensitivity to bright light, and involuntary back-and-forth eye movements called nystagmus. The hearing loss in this condition is sensorineural, which means it is caused by problems in the inner ear or the nerve that carries sound signals to the brain, rather than a blockage in the ear canal. This hearing loss is present from birth (congenital) and can range from moderate to severe. Because both the eyes and ears are affected, children with this condition may face challenges with communication and learning if not supported early. There is currently no cure for this condition. Treatment focuses on managing symptoms, including corrective lenses or low-vision aids for the eyes, hearing aids or cochlear implants for the hearing loss, and early intervention services such as speech therapy to support development.
Also known as:
Key symptoms:
Reduced color (pigment) in the iris of the eyesReduced pigment in the retinaBlurred or reduced visionSensitivity to bright light (photophobia)Involuntary rapid eye movements (nystagmus)Hearing loss present from birthDifficulty with speech and language developmentMisalignment of the eyes (strabismus)Difficulty seeing fine detailsFoveal hypoplasia (underdevelopment of the central part of the retina)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ocular albinism with congenital sensorineural deafness.
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Specialists
View all specialists →No specialists are currently listed for Ocular albinism with congenital sensorineural deafness.
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 Ocular albinism with congenital sensorineural deafness.
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.What is the severity of my child's hearing loss, and what hearing devices would be most helpful?,Should we consider cochlear implants, and if so, when is the best time?,What low-vision aids or therapies are available to help with my child's eyesight?,Is genetic testing recommended, and what can it tell us about this condition in our family?,What early intervention services should we start, and how soon?,Are there any clinical trials or new treatments being studied for this condition?,What school accommodations should we request to support my child's learning?
Common questions about Ocular albinism with congenital sensorineural deafness
What is Ocular albinism with congenital sensorineural deafness?
Ocular albinism with congenital sensorineural deafness is an extremely rare genetic condition that combines two main problems: reduced pigment (color) in the eyes and hearing loss present from birth. The eye findings are similar to those seen in ocular albinism, meaning the iris (colored part of the eye) and the retina (light-sensing layer at the back of the eye) have less pigment than normal. This leads to problems with vision, including reduced sharpness of sight, sensitivity to bright light, and involuntary back-and-forth eye movements called nystagmus. The hearing loss in this condition is
How is Ocular albinism with congenital sensorineural deafness inherited?
Ocular albinism with congenital sensorineural deafness follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ocular albinism with congenital sensorineural deafness typically begin?
Typical onset of Ocular albinism with congenital sensorineural deafness is neonatal. Age of onset can vary across affected individuals.