Albinism history and symptoms
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Overview
Patients may present both cutaneous and ocular findings. Cutaneous features include hypopigmented/ white hair, skin, and eyelashes. Ocular features include photophobia, decreased visual acuity, pink eyes, hypopigmentation of iris, and strabismus.
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[1]
Common Symptoms
- Cutaneous features include:[2][3]
- Ocular findings include:
- Photophobia
- Decreased visual acuity
- Pink eyes
- Hypopigmentation of iris
- Strabismus
References
References
- ↑ “Albinism – StatPearls – NCBI Bookshelf”.
- ↑ King RA, Summers CG (1988). “Albinism”. Dermatol Clin. 6 (2): 217–28. PMID 3288382.
- ↑ Witkop CJ (1979). “Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism”. Ala J Med Sci. 16 (4): 327–30. PMID 546241.
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