Living with Ocular albinism with late-onset sensorineural deafness
A rare X-linked form of ocular albinism with severe vision problems and hearing loss that starts from the teen years into adulthood.
Understanding Ocular albinism with late-onset sensorineural deafness
It involves severe visual impairment, pale blue see-through irises, and less pigment in the retina. Moderately severe hearing loss from the inner ear starts anywhere from adolescence to the fourth or fifth decade of life. GARD lists adult as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lack of pigment in the eye (ocular albinism)
- Visual impairment
- Quick, involuntary eye movements (nystagmus)
- Sensitivity to light (photophobia)
- Eyes that don't look in the same direction (strabismus)
- Hearing loss from the inner ear
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The National Organization of Albinism and Hypopigmentation (NOAH) and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is inherited in an X-linked way.
Also known as: ocular albinism with late-onset sensorineural hearing loss
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Ocular albinism with late-onset sensorineural deafness · United States
- The Vision of Children FoundationOcular albinism with late-onset sensorineural deafness · United States
You are more than your diagnosis
Perspectives from people navigating life with Ocular albinism with late-onset sensorineural deafness.
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