Albinism physical examination: Difference between revisions

Jump to navigation Jump to search
← Older edit
VisualWikitext
No edit summary
No edit summary
 
(11 intermediate revisions by the same user not shown)
Line 4: Line 4:


==Overview==
==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: <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===
*Patients with [[albinism]] usually have white or hypo-pigmented [[hair]], [[skin]], and [[eyelashes]]
===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:<ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref>
** Refractive errors; [[astigmatism]], [[myopia]], [[hyperopia]]
** [[Strabismus]]
** [[Nystagmus]]
*** Exacerbated by [[pain]], [[illness]], [[anxiety]], [[fatigue]], and covering one [[eye]]
** [[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


==Physical Examination==
===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




Latest revision as of 15:37, 16 September 2021

Albinism Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Albinism from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Albinism physical examination On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Albinism physical examination

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Albinism physical examination

CDC on Albinism physical examination

Albinism physical examination in the news

Blogs on Albinism physical examination

Directions to Hospitals Treating Albinism

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

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

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

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

Template:WS Template:WH

Retrieved from "https://www.wikidoc.org/index.php?title=Albinism_physical_examination&oldid=1713996"