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]


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

Differential diagnosis of Albinism
Disease Inheritance Gene mutation Diagnostic criteria
Hermansky-Pudlak syndrome Autosomal recessive Affected genes of lysosome-related organelles
Chediak-Higashi syndrome Autosomal recessive Lysosomal trafficking regulator gene
Griscelli syndrome Autosomal recessive Defects in myosin, myosin receptors, and binding
Waardenburg syndrome type II Autosomal dominant MITF gene mutation
Vici syndrome Autosomal recessive Mutation in ectopic P granules protein 5
Tietz albinism-deafness syndrome Autosomal dominant MITF gene mutation
Angelman syndrome Loss of the maternal copy of chromosome 15q11.2-13 -
Prader-Willi syndrome Loss of the paternal copy of chromosome 15q11.2-13 -
Cross-McKusick-Breen syndrome Autosomal recessive De novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome
Achromatopsia Autosomal recessive Dysfunctional cone cells in the retina
Aland Island eye disease (Forsius-Eriksson syndrome) X-linked recessive Novel CACNA1F gene mutation
Aniridia Autosomal dominant PAX6 gene mutation
Congenital nystagmus X-linked disorder FRMD7 gene mutation


  1. "Albinism - StatPearls - NCBI Bookshelf".
  2. Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (1994). "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism". N Engl J Med. 330 (8): 529–34. doi:10.1056/NEJM199402243300803. PMID 8302318.
  3. HERMANSKY F, PUDLAK P (1959). "Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies". Blood. 14 (2): 162–9. PMID 13618373.
  4. DePinho RA, Kaplan KL (1985). "The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations". Medicine (Baltimore). 64 (3): 192–202. PMID 3921802.
  5. Witkop CJ, Nuñez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F; et al. (1990). "Albinism and Hermansky-Pudlak syndrome in Puerto Rico". Bol Asoc Med P R. 82 (8): 333–9. PMID 2261023.
  6. Dimson O, Drolet BA, Esterly NB (1999). "Hermansky-Pudlak syndrome". Pediatr Dermatol. 16 (6): 475–7. doi:10.1046/j.1525-1470.1999.00122.x. PMID 10632950.
  7. Fukai K, Ishii M, Kadoya A, Chanoki M, Hamada T (1993). "Chédiak-Higashi syndrome: report of a case and review of the Japanese literature". J Dermatol. 20 (4): 231–7. doi:10.1111/j.1346-8138.1993.tb03867.x. PMID 8315113.
  8. Mancini AJ, Chan LS, Paller AS (1998). "Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature". J Am Acad Dermatol. 38 (2 Pt 2): 295–300. doi:10.1016/s0190-9622(98)70568-7. PMID 9486701.
  9. WAARDENBURG PJ (1951). "A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness". Am J Hum Genet. 3 (3): 195–253. PMC 1716407. PMID 14902764.

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