Albinism Questions & Answers

Updated: Oct 28, 2019
  • Author: Mounir Bashour, MD, PhD, CM, FRCSC, FACS; Chief Editor: Donny W Suh, MD, FAAP  more...
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Questions & Answers

Overview

What is albinism?

How is albinism classified?

What is the pathophysiology of albinism?

What is the role of melanin in the pathophysiology of albinism?

What is the pathogenesis the ocular features of albinism?

What is the prevalence of albinism?

What is the mortality and morbidity associated with albinism?

What are the racial predilections of albinism?

What are the sexual predilections of albinism?

Which types of albinism are congenital?

What is the prognosis of albinism?

What is included in patient education about albinism?

Presentation

What is oculocutaneous albinism 1 (OCA 1)?

What is ocular albinism 1 (OA 1)?

Which clinical history findings are characteristic of albinism?

What is oculocutaneous albinism 1A (OCA 1A)?

What is oculocutaneous albinism 1B (OCA 1B)?

What is temperature-sensitive albinism?

What is oculocutaneous albinism 2 (OCA 2)?

What is oculocutaneous albinism 3 (OCA 3)?

What is autosomal recessive ocular albinism?

Which conditions are closely linked to OCA 2?

Which conditions are closely linked to OA 1?

Which conditions are associated with albinism?

Which physical findings are characteristic of albinism?

How is the type of albinism determined?

What causes albinism?

What are the possible complications of albinism?

DDX

What are the differential diagnoses for Albinism?

Workup

What is the role of hair bulb assays in the workup of albinism?

What is the role of genetic testing in the workup of albinism?

When are hematologic tests indicated in the workup of albinism?

What is the role of imaging studies is the workup of albinism?

What is the role of visual-evoked potential (VEP) testing in the workup of albinism?

Which histologic findings are characteristic of albinism?

Treatment

How is albinism treated?

What is the role of surgery in the treatment of albinism?

Which specialist consultations are beneficial to patients with albinism?

Medications

What is the role of medications in the treatment of albinism?