Albinism physical examination: Difference between revisions
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==Physical Examination== | ==Physical Examination== | ||
* Common physical examination findings of [[albinism]] include white or hypo-pigmented [[hair]], [[skin]], and [[eyelashes]] | * Common physical examination findings of [[albinism]] include white or hypo-pigmented [[hair]], [[skin]], and [[eyelashes]] | ||
* The specific findings of each subtype of [[albinism]] are as follows: <ref name="pmid12770978">{{cite journal| author=Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE| title=The clinical features of albinism and their correlation with visual evoked potentials. | journal=Br J Ophthalmol | year= 2003 | volume= 87 | issue= 6 | pages= 767-72 | pmid=12770978 | doi=10.1136/bjo.87.6.767 | pmc=1771702 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12770978 }} </ref><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> | |||
** [[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]]: | |||
*** Classic [[OCA2]]; Creamy white to tan [[skin]], yellow, blond, or light brown [[hair]], [[eyebrow]], [[eyelashes]], blue, hazel, brown or gray [[irides]], [[visual acuity]] ranges from 20/25 to 20/200 | |||
*** 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 | |||
** OCA3: | |||
*** Known as red/rufous OCA, light brown or reddish brown [[skin]] and [[hair]], blue-brown [[irides]], and undetactable [[visual]] impairment | |||
** OCA 4: | |||
*** Similar to classic [[OCA2]] and visual acuity ranges from 20/30 to 20/400; usually 20/100 to 20/200 | |||
** OCA5: | |||
*** White [[skin]] and golden [[hair]], [[nystagmus]],photophobia, [[foveal hypoplasia]], and impaired [[visual acuity]] are present | |||
** OCA6: | |||
*** White [[skin]] and light [[hair]], brown [[irides]], mild [[nystagmus]], [[foveal hypoplasia]], and mild [[photophobia]] are present along with [[visual acuity]] of 20/100. | |||
** OCA7: | |||
*** Lighter [[skin]] color compared to family members, light blond to dark brown [[hair]], [[nystagmus]], [[foveal hypoplasia]], [[iris]] transillumination are present alon with [[visual acuity]] of 20/30 to 20/400 | |||
** [[Hermansky-Pudlak syndrome]] ([[HPS]]): | |||
*** White to olive [[skin]], white to brown [[hair]], hypopigmented [[irides]] along with [[nystagmus]], [[foveal hypoplasia]], [[iris]] transillumination and [[visual acuity]] of 20/50 to 20/400 | |||
*** Individuals with [[HPS]] might have [[bleeding]] disorders due to [[platelet dysfucntion]], [[kidney]] and [[lung]] abnormalities, [[immunodeficiency]] and [[hemophagocytic syndrome]], [[pulmonary fibrosis]], and [[granulomatous colitis]] | |||
** [[Chediak-Higashi syndrome]] ([[CHS]]): | |||
*** OCA symptoms along with [[pyogenic infections]], [[neutropenia]], [[peripheral neuropathy]], and [[coagulopathy]] | |||
** [[Angelman syndrome]] and [[Prader-Willi syndrome]]: | |||
*** Indiviuals have hypopigmented [[skin]] and [[hair]] compared to members of family, if ocular findings are present, it is associated with [[OCA2]] | |||
** [[Ocular albinism]] ([[OA1]]): | |||
*** [[Hypopigmentation]] is only present in [[eyes]] along with [[nystagmus]], [[foveal hypoplasia]], [[photophobia]] and [[visual acuity]] ranges from 20/100 to 20/200 | |||
*** Since OA1 is [[X-linked]] disorder, males have complete [[phenotype]] while females rarely develope [[nystagmus]] and low vision | |||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with [[albinism]] usually have white or hypo-pigmented [[hair]], [[skin]], and [[eyelashes]] | *Patients with [[albinism]] usually have white or hypo-pigmented [[hair]], [[skin]], and [[eyelashes]] | ||
===Vital Signs=== | ===Vital Signs=== | ||
*Vital signs of patients with [[albinism]] are within normal limit | *Vital signs of patients with [[albinism]] are within normal limit | ||
===Skin=== | ===Skin=== | ||
* Skin examination of patients with [[albinism]] is usually remarkable for white or hypo-pigmented skin | * Skin examination of patients with [[albinism]] is usually remarkable for white or hypo-pigmented skin | ||
===HEENT=== | ===HEENT=== | ||
* [[Ocular]] [[physical examination]] findings include:<ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref> | * [[Ocular]] [[physical examination]] findings include:<ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref> | ||
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* Extremities examination of patients with [[[albinism]] is usually normal | * Extremities examination of patients with [[[albinism]] is usually normal | ||
==References== | ==References== | ||
Latest revision as of 15:37, 16 September 2021
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Albinism physical examination On the Web |
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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
Ocular physical examination findings include refractive errors, strabismus, nystagmus, foveal hypoplasia, iris transillumination, decreased iris pigmentation. Cutaneous finding varies from white to hypopigmented or light brown skin, hair, eyebrow, and eyelashes.
Physical Examination
- Common physical examination findings of albinism include white or hypo-pigmented hair, skin, and eyelashes
- The specific findings of each subtype of albinism are as follows: [1][2]
- 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:
- Classic OCA2; Creamy white to tan skin, yellow, blond, or light brown hair, eyebrow, eyelashes, blue, hazel, brown or gray irides, visual acuity ranges from 20/25 to 20/200
- 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
- OCA3:
- OCA 4:
- Similar to classic OCA2 and visual acuity ranges from 20/30 to 20/400; usually 20/100 to 20/200
- OCA5:
- White skin and golden hair, nystagmus,photophobia, foveal hypoplasia, and impaired visual acuity are present
- OCA6:
- White skin and light hair, brown irides, mild nystagmus, foveal hypoplasia, and mild photophobia are present along with visual acuity of 20/100.
- OCA7:
- Lighter skin color compared to family members, light blond to dark brown hair, nystagmus, foveal hypoplasia, iris transillumination are present alon with visual acuity of 20/30 to 20/400
- Hermansky-Pudlak syndrome (HPS):
- White to olive skin, white to brown hair, hypopigmented irides along with nystagmus, foveal hypoplasia, iris transillumination and visual acuity of 20/50 to 20/400
- Individuals with HPS might have bleeding disorders due to platelet dysfucntion, kidney and lung abnormalities, immunodeficiency and hemophagocytic syndrome, pulmonary fibrosis, and granulomatous colitis
- Chediak-Higashi syndrome (CHS):
- OCA symptoms along with pyogenic infections, neutropenia, peripheral neuropathy, and coagulopathy
- Angelman syndrome and Prader-Willi syndrome:
- Ocular albinism (OA1):
- Hypopigmentation is only present in eyes along with nystagmus, foveal hypoplasia, photophobia and visual acuity ranges from 20/100 to 20/200
- Since OA1 is X-linked disorder, males have complete phenotype while females rarely develope nystagmus and low vision
- Oculocutaneous albinism 1 (OCA1):
Appearance of the Patient
Vital Signs
- Vital signs of patients with albinism are within normal limit
Skin
- Skin examination of patients with albinism is usually remarkable for white or hypo-pigmented skin
HEENT
- Ocular physical examination findings include:[3]
- Refractive errors; astigmatism, myopia, hyperopia
- 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
Neck
- Neck examination of patients with albinism is usually normal
Lungs
- Pulmonary examination of patients with albinism is usually normal
Heart
- Cardiovascular examination of patients with albinism is usually normal
Abdomen
- Abdominal examination of patients with albinism is usually normal
Back
- Back examination of patients with albinism is usually normal
Genitourinary
- Genitourinary examination of patients with albinism is usually normal
Neuromuscular
- Neuromuscular examination of patients with albinism is usually normal
Extremities
- Extremities examination of patients with [[[albinism]] is usually normal
References
- ↑ Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE (2003). "The clinical features of albinism and their correlation with visual evoked potentials". Br J Ophthalmol. 87 (6): 767–72. doi:10.1136/bjo.87.6.767. PMC 1771702. PMID 12770978.
- ↑ 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.
- ↑ "Albinism - StatPearls - NCBI Bookshelf".