Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Eye Diseases, Hereditary
Albinism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Albinism
Preferred term
Albinism, Ocular
Type
-
Topical Descriptor
Broader concept
Entry terms
- Ocular Albinism
Note
- hypopigmentation of eye; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Scope note
- Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
History note
- 91
In other languages
-
Finnish
-
Ahvenanmaan silmätauti
-
albinismus ocularis
-
Forsius-Erikson
-
Forsius-Eriksonin tauti
-
morbus Forsius-Erikson
-
okulaarinen albiinous
-
okulaarinen albinismi
-
silmien albinismi
-
silmän albiinous
-
Swedish
-
Okulär albinism
URI
http://www.yso.fi/onto/mesh/D016117
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