Albinism medical therapy
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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
The management of cutaneous and ocular manifestations of albinism include avoidance of prolonged sun exposure, periodic dermatologist evaluation for skin cancer, corrective lenses for refractive errors, tinted lenses/glasses for photophobia, bifocal or low-vision aids in older children, eye-patching in infants for reduction of strabismus, contact lenses or eye surgery in presence of nystagmus. Additionally, nitisinone can be used to improve pigmentation in OCA1.
Medical therapy
- Management of cutaneous features: [1][2]
- Avoidance of prolonged sun exposure
- Avoidance of medications that increase photosensitivity
- Upon sun exposure, application of sunscreen with at least SPF 30+ every 2 hours is recommended
- Periodic dermatologist evaluation is recommended for detection of skin cancer
- Nitisinone increases the level of tyrosine and improve pigmentation in OCA1
- Management of ocular features:[3]
- Refractive errors should be treated by corrective lenses
- Tinted lenses/glasses can be used to reduce photophobia
- Bifocal or low-vision aids can be used in older children and adults
- Eye-patching can be used in infants to reduce strabismus
- Contact lenses or eye surgery may be required in presence of nystagmus
References
- ↑ "Albinism - StatPearls - NCBI Bookshelf".
- ↑ Marçon CR, Maia M (2019). "Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors". An Bras Dermatol. 94 (5): 503–520. doi:10.1016/j.abd.2019.09.023. PMC 6857599 Check
|pmc=value (help). PMID 31777350. - ↑ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.