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==[[Albinism historical perspective|Historical Perspective]]==
==[[Albinism historical perspective|Historical Perspective]]==
[[Albinism]] was first discovered in 1908 by a British physician named Sir Archibald Edward Garrod. At first, it was believed that [[albinism]] is caused by a lack of [[melanocytes]]. In late 1950, it was proved that [[albinism]] is caused by [[tyrosine kinase]] inactivity.


==[[Albinism classification|Classification]]==
==[[Albinism classification|Classification]]==
[[Albinism]] is classified based on genetic [[mutation]]. The different types of [[albinism]] include: [[Oculocutaneous albinism]]([[OCA]]), [[Hermansky-Pudlak syndrome]] ([[HPS]]),[[Chediak-Higashi syndrome]] ([[CHS]]),[[Ocular albinism]] ([[OA]]).


==[[Albinism pathophysiology|Pathophysiology]]==
==[[Albinism pathophysiology|Pathophysiology]]==
[[Melanocytes]] are derived from [[neural crest]] [[ectoderm]] and are found in [[hair follicles]], [[skin]], [[eyes]], and [[inner ear]]. [[Melanocytes]] produce [[melanin]] which protects [[skin]] from [[ultraviolet]]. [[Tyrosinase]] converts [[tyrosine]] to [[DOPA]], [[dopaquinone]], and then [[melanin]]. [[Mutation]] in [[Tyrosinase]] [[enzyme]] is responsible for causing [[albinism]]. Additionally, [[melanin]] is responsible for development of the [[fovea]], [[optic nerves]], [[optic tracts]], and [[visual cortex]].Decussation of some optic nerve fibers at [[optic chiasm]] are essential for binocular vision. However, in [[albinism]], most of [[nerve fibers]] decussate at [[optic chiasm]] and cause monocluar vision presented as [[strabismus]]. In [[ocular albinism]], [[macular]] pigment is absent and [[fovea]] [[hypoplasia]] leads to decreased [[visual acuity]].


==[[Albinism causes|Causes]]==
==[[Albinism causes|Causes]]==
[[Albinism]] is caused by [[genetic mutations]] that impair [[melanin]] synthesis. The number of [[melanocytes]] is preserved.


==[[Albinism differential diagnosis|Differentiating Albinism from Other Diseases]]==
==[[Albinism differential diagnosis|Differentiating Albinism from Other Diseases]]==


==[[Albinism epidemiology and demographics|Epidemiology and Demographics]]==
==[[Albinism epidemiology and demographics|Epidemiology and Demographics]]==
The [[prevalence]] of [[albinism]] is estimated to be 1:17,000 to 1:20,000 in the general [[population]].The [[Prevalence]] of different types of [[albinism]] varies and the most prevalent form is [[Oculocutaneous albinism]] 2 ([[OCA2]]).


==[[Albinism risk factors|Risk Factors]]==
==[[Albinism risk factors|Risk Factors]]==
[[Albinism]] is inherited due to [[genetic mutations]]. Individuals with positive [[familial history]] are at risk of having [[albinism]].


==[[Albinism screening|Screening]]==  
==[[Albinism screening|Screening]]==  
There is no screening test for [[albinism]].Individuals with familial history of [[albinism]] can undergo [[genetic sequence]] analysis.


==[[Albinism natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Albinism natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
The [[complications]] of [[albinism]] include [[skin cancer]], [[sunburn]], decreased [[visual]] acuity, poor self-image and self-isolation lead to [[depression]]. Patients with [[albinism]] has a normal [[life expectancy]]  and do not have [[developmental delay]] or [[mental retardation]].
 
==Diagnosis==
==Diagnosis==
[[Albinism history and symptoms|History and Symptoms]] | [[Albinism physical examination|Physical Examination]] | [[Albinism laboratory findings|Laboratory Findings]] | [[Albinism electrocardiogram|Electrocardiogram]] | [[Albinism x ray|X Ray]] | [[Albinism CT|CT]] | [[Albinism MRI|MRI]] | [[Albinism echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Albinism other imaging findings|Other Imaging Findings]] | [[Albinism other diagnostic studies|Other Diagnostic Studies]]
[[Albinism history and symptoms|History and Symptoms]] | [[Albinism physical examination|Physical Examination]] | [[Albinism laboratory findings|Laboratory Findings]] | [[Albinism electrocardiogram|Electrocardiogram]] | [[Albinism x ray|X Ray]] | [[Albinism CT|CT]] | [[Albinism MRI|MRI]] | [[Albinism echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Albinism other imaging findings|Other Imaging Findings]] | [[Albinism other diagnostic studies|Other Diagnostic Studies]]

Revision as of 16:04, 21 August 2021

Albinism Microchapters

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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

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 |

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