Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Albinism history and symptoms
Introduction
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]