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Ocular albinism with congenital sensorineural deafness
Disease definition
Ocular albinism with congenital sensorineural deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and café-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.
ORPHA:352740
Classification level: Disorder- Synonym(s):
- Ocular albinism with congenital sensorineural hearing loss
- Waardenburg syndrome type 2 with ocular albinism
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: E70.3
- OMIM: 103470
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Guidance for genetic testing
- Français (2016, pdf)
- Disability factsheet
- Français (2020, pdf)
Additional information
Further information on this disease
Health care 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.