Differentiating Albinism from other diseases

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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

Oculocutaneous albinism and ocular albinism must be differentiated from the following rare disease: Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Waardenburg syndrome type II, Vici syndrome, Tietz albinism-deafness syndrome, Angelman syndrome, Prader-Willi syndrome, Cross-McKusick-Breen syndrome, Achromatopsia, Aland Island eye disease (Forsius-Eriksson syndrome), Aniridia, and Congenital nystagmus.

Differential Diagnosis

• Oculocutaneous albinism and ocular albinism must be differentiated from following disorders:

Differential diagnosis of Albinism

Disease	Inheritance	Gene mutation	Diagnostic criteria
Hermansky-Pudlak syndrome	Autosomal recessive	Affected genes of lysosome-related organelles	Oculocutaneous albinism Accumulation of ceroid in tissues Immunologic deficiency Interstitial lung fibrosis Granulomatous colitis Bleeding problem (deficiency of granules in platelets)
Chediak-Higashi syndrome	Autosomal recessive	Lysosomal trafficking regulator gene	Oculocutaneous albinism Increased susceptibility to bacterial infection Increased bleeding time Peripheral neuropathy
Griscelli syndrome	Autosomal recessive	Defects in myosin, myosin receptors, and binding	Albinism Immune impairment Neurological deficit Melanin aggregation in hair shaft
Waardenburg syndrome type II	Autosomal dominant	MITF gene mutation	Patchy skin hypopigmentation Iris heterochromia sensorineural hearing loss
Vici syndrome	Autosomal recessive	Mutation in ectopic P granules protein 5	Absent of corpus callosum Skin and hair hypopigmentation Microcephaly Immunodeficiency Cardiac abnormalities Cataracts Cleft lip and palate Neurologic abnormalities
Tietz albinism-deafness syndrome	Autosomal dominant	MITF gene mutation	White eyebrows and eyelashes Iris hypopigmentation Sensorineural hearing loss
Angelman syndrome	Loss of the maternal copy of chromosome 15q11.2-13	-	Skin and hair hypopigmentation characteristic facial features Short stature Mental retardation Spastic gait Seizure Inappropriate outburst of laughter
Prader-Willi syndrome	Loss of the paternal copy of chromosome 15q11.2-13	-	Skin and hair hypopigmentation Poor muscle tone Short stature Mental retardation Hyperphagia leads obesity and type 2 diabetes
Cross-McKusick-Breen syndrome	Autosomal recessive	De novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome	Skin and hair hypopigmentation Microphthalmia Corneal opacification Nystagmus Athetosis Ataxia Joint contractures Spastic tetraplegia
Achromatopsia	Autosomal recessive	Dysfunctional cone cells in the retina	Loss of color vision Photophobia Nystagmus Low visual acuity with hyperopia
Aland Island eye disease (Forsius-Eriksson syndrome)	X-linked recessive	Novel CACNA1F gene mutation	fundal hypopigmentation Foveal hypoplasia Myopia and astigmatism Nystagmus Night blindness
Aniridia	Autosomal dominant	PAX6 gene mutation	Absence of the iris Foveal hypoplasia nystagmus Amblyopia cataracts
Congenital nystagmus	X-linked disorder	FRMD7 gene mutation	Nystagmus Reduced visual acuity