X-linked recessive ocular albinism (Q100369): Difference between revisions
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Albinismo ocular recessivo ligado ao X é uma forma de albinismo ocular, um grupo de transtornos genéticos ligados ao X ou autossômicos caracterizados por falta completa ou parcial de pigmentação de melanina nos olhos. Os olhos podem ser gravemente afetados com fotofobia e redução da acuidade visual. Nistagmo ou estrabismo estão frequentemente associados. As íris e os fundos de olho são despigmentados. | |||
| description / en | description / en | ||
X-linked recessive ocular albinism is a form of ocular albinism, a group of X-linked or autosomal genetic disorders characterised by partial or total lack of melanin pigmentation in the eyes. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. | |||
Revision as of 17:05, 16 August 2026
X-linked recessive ocular albinism is a form of ocular albinism, a group of X-linked or autosomal genetic disorders characterised by partial or total lack of melanin pigmentation in the eyes. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.
| Language | Label | Description | Also known as |
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| default for all languages | ID_846740259 |
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| English | X-linked recessive ocular albinism |
X-linked recessive ocular albinism is a form of ocular albinism, a group of X-linked or autosomal genetic disorders characterised by partial or total lack of melanin pigmentation in the eyes. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. |
