Albinism history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
History
- Patients with albinism have positive familial history of as albinism is inherited by genetic mutation
- Patients with severe cutaneous findings can easier be diagnosed rather than those with only ocular albinism
- Comparing the cutaneous features of suspected patients with other family members is vital for the diagnosis
Symptoms
- Cutaneous features include:
- Hypopigmentation/ white hair
- Hypopigmentation/ white eyelashes
- Hypopigmentation/ white skin
- Ocular findings include:
- Photophobia
- Decreased visual acuity
- Pink eyes
- Hypopigmentation of iris