Albinism medical therapy: Difference between revisions
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== Medical therapy== | == Medical therapy== | ||
* Management of [[cutaneous]] features: <ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref><ref name="pmid31777350">{{cite journal| author=Marçon CR, Maia M| title=Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. | journal=An Bras Dermatol | year= 2019 | volume= 94 | issue= 5 | pages= 503-520 | pmid=31777350 | doi=10.1016/j.abd.2019.09.023 | pmc=6857599 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31777350 }} </ref> | * Management of [[cutaneous]] features: <ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref><ref name="pmid31777350">{{cite journal| author=Marçon CR, Maia M| title=Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. | journal=An Bras Dermatol | year= 2019 | volume= 94 | issue= 5 | pages= 503-520 | pmid=31777350 | doi=10.1016/j.abd.2019.09.023 | pmc=6857599 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31777350 }} </ref> | ||
** Avoidance of prolonged | ** Avoidance of prolonged sun exposure | ||
** Avoidance of [[medications]] that increase [[photosensitivity]] | ** Avoidance of [[medications]] that increase [[photosensitivity]] | ||
** Upon [[sun]] exposure, application of [[sunscreen]] with at least SPF 30+ every 2 hours is recommended | ** Upon [[sun]] exposure, application of [[sunscreen]] with at least SPF 30+ every 2 hours is recommended | ||
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** Nitisinone increases the level of [[tyrosine]] and improve pigmentation in OCA1 | ** Nitisinone increases the level of [[tyrosine]] and improve pigmentation in OCA1 | ||
* Management of [[ocular]] features:<ref name="pmid17980020">{{cite journal| author=Grønskov K, Ek J, Brondum-Nielsen K| title=Oculocutaneous albinism. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 43 | pmid=17980020 | doi=10.1186/1750-1172-2-43 | pmc=2211462 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17980020 }} </ref> | * Management of [[ocular]] features:<ref name="pmid17980020">{{cite journal| author=Grønskov K, Ek J, Brondum-Nielsen K| title=Oculocutaneous albinism. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 43 | pmid=17980020 | doi=10.1186/1750-1172-2-43 | pmc=2211462 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17980020 }} </ref> | ||
** | ** Refractive errors should be treated by [[corrective lenses]] | ||
** Tinted lenses/glasses can be used to reduce [[photophobia ]] | ** Tinted lenses/glasses can be used to reduce [[photophobia ]] | ||
** Bifocal or low-vision aids can be used in older children and adults | ** Bifocal or low-vision aids can be used in older children and adults | ||
** Eye-patching can be used in [[infants]] to reduce [[strabismus]] | ** Eye-patching can be used in [[infants]] to reduce [[strabismus]] | ||
** [[Contact lenses]] or [[eye]] surgery may be required in presence of [[nystagmus]] | ** [[Contact lenses]] or [[eye]] surgery may be required in presence of [[nystagmus]] | ||
==References== | ==References== | ||
Latest revision as of 15:18, 21 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
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.