Table 2.

Disorders to Consider in the Differential Diagnosis of OCA4

Differential
Disorder		Gene(s)MOIClinical Features of the Differential Disorder
Overlapping w/OCA4Distinguishing from OCA4
OCA1 (OMIM 203100, 606952) TYR AROculocutaneous
albinism		May have poorer visual acuity
OCA2 (OMIM 203200) OCA2 ARNA
OCA3
(OMIM 203290)		 TYRP1 ARReddish hair & freckled skin; only seen in individuals of African, Pakistani, German, Indian, & Japanese heritage
OCA5 (OMIM 615312)Unknown (candidate region is on 4q24)ARGolden hair
OCA6 (OMIM 113750) SLC24A5 ARIndistinguishable due to functional similarity of SLC45A2 (OCA4) & SLC24A5
OCA7 (OMIM 615179)LRMDA (formerly C10orf11)ARRelatively severe impaired visual acuity
Hermansky-Pudlak syndrome (HPS)HPS1
AP3B1 (HPS2)
HPS3
HPS4
HPS5
HPS6
DTNBP1 (HPS7)
BLOC1S3 (HPS8)
BLOC1S6
AP3D1 (HPS10)		ARBleeding tendency, platelet dense granules; granulomatous colitis & interstitial pneumonia in HPS1 & HPS4; immunodeficiency & hemophagocytic syndrome in HPS2 & HPS10
OA1 (OMIM 300500) GPR143 XLOcular albinismColoring may appear normal but some may have mild hypopigmentation of skin & hair compared to family members.
FRMD7-related infantile nystagmus FRMD7 XLNystagmusAbsence of oculocutaneous albinism

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked

From: Oculocutaneous Albinism Type 4

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.