Albinism ocular late onset sensorineural deafness
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1000
Definition
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
East Hampstead, NH, 03826-0959 , United States Phone: 603-887-2310 Toll Free: 800-473-2310; Email: noah@albinism.org Url: http://www.albinism.org Name: Vision of Children Foundation (VOC) 12671 High Bluff Drive, Suite 300
San Diego, CA, 92130 , United States Phone: 858-799-0810 Fax : 858-794-2348 Email: cdenofrio@visionofchildren.org Url: http://www.visionofchildren.org
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