Preferred Label : Ocular albinism - late-onset sensorineural deafness;
ICD-11 definition : Oculo-cutaneous albinism is a generic term covering a large group of genetic diseases
characterized by hypopigmentatrion of eyes, hair and skin. The ocular anomalies are
severe, the patients show reduced visual acuity, photophobia, nystagmus, translucent
irides, strabismus, hypermetropic refractive errors, and albinotic fundus with foveal
hypoplasia. Skin hypopigmentation induces an increased risk of cutaneous cancer.;
Origin ID : 746470881;
Currated CISMeF NLP mapping
Oculo-cutaneous albinism is a generic term covering a large group of genetic diseases
characterized by hypopigmentatrion of eyes, hair and skin. The ocular anomalies are
severe, the patients show reduced visual acuity, photophobia, nystagmus, translucent
irides, strabismus, hypermetropic refractive errors, and albinotic fundus with foveal
hypoplasia. Skin hypopigmentation induces an increased risk of cutaneous cancer.
