Albinismus, oculocutaneous type 7 E70.2

Very rare form of oculocutaneous albinism caused by a homozygous mutation in the C10ORF11 gene(LRMDA) on chromosome 10q22.

Homozygosity mapping performed in a consanguineous Faroese family revealed a 3.5 MB homozygous region on chromosome 10q22.2-q22.3 (chr10:77,233,812-80,685,953; GRCh37) that segregated with the disease in the family. Analysis of 3 other unrelated patients, including 2 sisters, revealed homozygosity in an overlapping region (Gronskov K et al. 2013).

Clinically, most affected individuals were characterized by pale complexion with a tendency to lighter skin coloration than their unaffected relatives; ocular symptoms predominated, with nystagmus and iris transillumination present in all patients. Pigmentation of the peripheral fundus was extremely sparse. Visual evoked potentials showed crossed asymmetry of the cortical visual response (misdirection) in all subjects studied. Photophobia was not a major problem. Hair color varied from pale blond to dark brown (Gronskov K et al. 2013).

Gronskov K et al (2013) Mutations in C10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet 92: 415-421.

Montoliu L et al (2013) Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res 27: 11-18.