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 [[sun]] exposure
** 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]]
** 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

References

  1. "Albinism - StatPearls - NCBI Bookshelf".
  2. 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.
  3. 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.

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