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Oculocutaneous albinism type 7

Disease definition

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

ORPHA:352745

Classification level: Disorder
  • Synonym(s):
    • OCA7
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E70.3
  • OMIM: 615179
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin.

Clinical description

Patients have a light skin pigmentation that is reported as lighter than their relatives. Hair color ranges from light blond to dark brown. Eye findings include nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and very sparse peripheral ocular fundus pigmentation.

Etiology

OCA7 is due to a mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in OCA7 pathogenesis.

Genetic counseling

OCA7 is inherited autosomal recessively and genetic counseling is possible.

Expert reviewer(s):  Dr Masahiro HAYASHI - Dr Tamio SUZUKI - Last update: June 2013

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.