Albinism history and symptoms: Difference between revisions
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==History== | ==History== | ||
* Patients have familial history of [[albinism]] | * Patients with [[albinism]] have positive [[familial history]] of as [[albinism]] is inherited by [[genetic mutation]] | ||
* Patients with severe [[cutaneous]] findings can be | * 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 | * Comparing the [[cutaneous]] features of suspected patients with other family members is vital for the diagnosis | ||
==Symptoms== | ==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]] | |||
==References== | ==References== |
Revision as of 17:49, 19 August 2021
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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