Search for a rare disease
Other search option(s)
Ocular albinism with late-onset sensorineural deafness
Disease 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.
ORPHA:1000
Classification level: DisorderDetailed information
Article for general public
Professionals
- Summary information
- Polski (2013, pdf)
- Guidance for genetic testing
- Français (2016, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.