Albinism physical examination: Difference between revisions
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* The specific findings of each subtype of [[albinism]] are as follows: | * The specific findings of each subtype of [[albinism]] are as follows: | ||
* [[Oculocutaneous albinism]] 1 ([[OCA1]]: | * [[Oculocutaneous albinism]] 1 ([[OCA1]]: | ||
** Type A; complete absence of [[melanin]], patients have white [[skin]], white [[hair]], [[nystagmus]], [[foveal hypoplasia]], light-colored, pink or red [[irides]], [[iris | ** Type A; complete absence of [[melanin]], patients have white [[skin]], white [[hair]], [[nystagmus]], [[foveal hypoplasia]], light-colored, pink or red [[irides]], [[iris]] translumination, and [[visual acuity]] of 20/100 to 20/400 | ||
** Type B; some [[tyrosine]] function reserved, patients have yellow to light brown [[skin]], hazel, or light brown [[irides]], and [[visual acuity]] of 20/100 to 20/200. | ** Type B; some [[tyrosine]] function reserved, patients have yellow to light brown [[skin]], hazel, or light brown [[irides]], and [[visual acuity]] of 20/100 to 20/200. | ||
* [[ OCA2]]: | |||
** Classic [[OCA2]]: Creamy white [[skin]] or tan [[skin]], yellow, blond, or light brown | |||
** Brown [[OCA2]] : Brown [[skin]], [[hair]], and [[eyes]]; patients are hypo pigmented compared to family members | |||
** Red [[OCA2]]: Red [[hair]], light-colored [[eyes]] along with [[vision]] problems | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 15:09, 20 August 2021
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Albinism Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Albinism physical examination On the Web |
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American Roentgen Ray Society Images of Albinism physical examination |
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Risk calculators and risk factors for Albinism physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Physical Examination
- Ocular physical examination findings include:[1]
- Refractive errors
- Strabismus
- Nystagmus
- Foveal hypoplasia
- Iris transillumination
- Decreased iris pigmentation which varies from pink eyes to light blue, green, gray, or light brown
- Yellow to orange retina due to decreased melanosis of the retinal epithelium
- The specific findings of each subtype of albinism are as follows:
- Oculocutaneous albinism 1 (OCA1:
- Type A; complete absence of melanin, patients have white skin, white hair, nystagmus, foveal hypoplasia, light-colored, pink or red irides, iris translumination, and visual acuity of 20/100 to 20/400
- Type B; some tyrosine function reserved, patients have yellow to light brown skin, hazel, or light brown irides, and visual acuity of 20/100 to 20/200.
- OCA2: