OCA7

Albinism, Oculocutaneous, Type VII

Clinical Characteristics

Ocular Features:

Nystagmus and iris transillumination are present in all family members studied. VEP studies show asymmetric decussation of axons in the chiasm. The peripheral retina may have striking hypopigmentation. OCT reveals hypoplasia of the foveal region. Photophobia is not a significant problem. Visual acuity is mildly to moderately reduced.

Systemic Features:

Homozygous individuals are lighter in complexion than other family members. Hair color ranges from pale blond to dark brown.

Genetics

Homozygous mutations in the C10orf11 gene (10q22.2-q22.3) are responsible for the phenotype of this autosomal recessive condition. The gene is active in melanocyte differentiation.

Pedigree:

Autosomal recessive

Treatment

Treatment Options:

No treatment for the hypopigmentation has been reported. Visual function might be improved with low vision aids.

References

Article Title:

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

Gronskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mollgard K, Stemple DL, Rosenberg T. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013 Mar 7;92(3):415-21.

PubMed ID:

23395477

Increasing the complexity: new genes and new types of albinism

Montoliu L, Gronskov K, Wei AH, Martinez-Garcia M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-18. Review.

PubMed ID:

24066960

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