Albinism history and symptoms: Difference between revisions

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Latest revision as of 15:04, 16 September 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

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]
- White or hypo-pigmented hair
- White or hypo-pigmented eyelashes
- White or hypo-pigmented skin
Ocular findings include:
- Photophobia
- Decreased visual acuity
- Pink eyes
- Hypopigmentation of iris
- Strabismus

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.

Template:WS Template:WH

[1] "Albinism - StatPearls - NCBI Bookshelf".

[pmid3288382-2] King RA, Summers CG (1988). "Albinism". Dermatol Clin. 6 (2): 217–28. PMID 3288382.

[pmid546241-3] 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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[2]

[3]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Albinism}}
+{{CMG}}; {{AE}} {{ S.M}}
-Please help WikiDoc by adding more content here.  It's easy!  Click  [[Help:How_to_Edit_a_Page|here]]  to learn about editing
 ==Overview==
-A person with [[albinism]] will have one of the following symptoms:
+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]].
-* Absence of color in the hair, skin, or [[iris]] of the eye
+===History===
-* Lighter-than-normal skin and hair
+* Patients with [[albinism]] have positive [[familial history]] of  as [[albinism]] is inherited by [[genetic mutation]]
-* Patchy, missing skin color
+* 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<ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
-Many forms of albinism are associated with the following symptoms:
+=== Common Symptoms===
+* [[Cutaneous]] features include:<ref name="pmid3288382">{{cite journal| author=King RA, Summers CG| title=Albinism. | journal=Dermatol Clin | year= 1988 | volume= 6 | issue= 2 | pages= 217-28 | pmid=3288382 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3288382  }} </ref><ref name="pmid546241">{{cite journal| author=Witkop CJ| title=Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. | journal=Ala J Med Sci | year= 1979 | volume= 16 | issue= 4 | pages= 327-30 | pmid=546241 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=546241  }} </ref>
+** White or hypo-pigmented [[hair]]
+** White or hypo-pigmented [[eyelashes]]
+** White or hypo-pigmented [[skin]]
+* [[Ocular]] findings include:
+** [[Photophobia]]
+** Decreased [[visual acuity]]
+** Pink [[eyes]]
+** [[Hypopigmentation]] of [[iris]]
+** [[Strabismus]]
-* Crossed eyes ([[strabismus]])
+==References==
-* Light sensitivity ([[photophobia]])
+{{Reflist|2}}
-* Rapid eye movements ([[nystagmus]])
-* Vision problems, or functional [[blind]]ness
-== Symptoms and conditions associated with albinism ==
-[[Genetic testing]] can confirm albinism and what variety it is, but offers no medical benefits except in the cases of non-OCA disorders (see below) that cause albinism ''along with'' other medical problems which may be treatable.  The ''symptoms'' of albinism can be treated by various methods detailed below.
-Eye conditions common in albinism may include:
-* [[Nystagmus]], irregular rapid movement of the eyes back and forth, or in circular motion.
-* [[Strabismus]], eye misalignment ("crossed eyes" or "lazy eye").
-* Refractive errors such as [[myopia]] or [[hyperopia]] and especially [[astigmatism]] are more likely<ref name="Albinism_Diagnosis"> [http://bjo.bmj.com/cgi/content/full/82/2/189 "Albinism: Modern molecular diagnosis"]</ref>
-* [[Photophobia]], [[hypersensitivity]] to bright light and glare.
-* Foveal hypoplasia, underdevelopment of the [[fovea]], the center of the [[retina]]
-* [[Optic nerve hypoplasia]], underdevelopment of the optic nerve
-* Abnormal decussation (crossing) of the optic nerve fibers in the [[optic chiasm]]<ref name="Optometry_Albinism"> [http://www.revoptom.com/HANDBOOK/SECT58a.HTM "Albinism - Review of Optometry Online"]</ref>
-* [[Amblyopia]], decrease in acuity of one or both eyes due to poor transmission to the brain, often due to other conditions such as strabismus
-[[Image:Albinistic girl papua new guinea.jpg|thumb|left|240px|Albinistic girl from [[Papua New Guinea]]]]
-Organisms with albinism usually have impaired vision due to one or more of the listed conditions. While a person with albinism may suffer from common refractive errors like nearsightedness or farsightedness, the visual problems particularly associated with albinism arise from a poorly-developed [[retinal pigment epithelium]] (RPE) due to the lack of melanin {{Fact|date=February 2007}}. This degenerate RPE causes foveal [[hypoplasia]] (a failure in the development of normal [[fovea]]e), which results in eccentric fixation and lower visual acuity, and often a minor level of strabismus. Nystagmus is usually seen, as is [[photophobia]] or light sensitivity (see below).
+[[Category:Endocrinology]]
+[[Category:Dermatology]]
 [[Category:Needs content]]
-The [[Iris (anatomy)|iris]] is a [[sphincter]] with pigmented tissue (which makes up the color of the eyes) that contracts to limit the amount of light that can enter through the pupil and relaxes again to allow for better vision in darkness. This mechanism can be observed in humans and mammals (like in cat's eyes) and is needed because too much light is uncomfortable or even painful and decreases vision. In people with albinism, the iris does not have enough pigment to block the light, thus the decrease of pupil diameter is only partially successful in reducing the amount of light that enters the eye. {{Fact|date=February 2007}}.  Additionally, the improper development of the RPE, which in normal eyes absorbs most of the reflected sunlight, further increases glare due to light scattering within the eye.<ref name="Optometry_Albinism"> [http://www.revoptom.com/HANDBOOK/SECT58a.HTM "Albinism - Review of Optometry Online"]</ref> The resulting sensitivity (photophobia) generally leads to a dislike of and discomfort in bright light, but does not prevent people with albinism enjoying the outdoors, especially when using sunglasses and/or brimmed hats.<ref name="Facts_Albinism"> [http://albinism.med.umn.edu/facts.htm "Facts about Albinism"], by Dr. Richard King et al. </ref>
+[[Category:Needs overview]]
-The lack of pigment also makes the skin unusually sensitive to sunlight and thus susceptible to [[sunburn]], so people with albinism should either avoid prolonged exposure to bright sunlight or protect their skin.
+{{WS}}
+{{WH}}
-==References==
-{{Reflist|2}}