OMIM ID:
Albinism, Oculocutaneous, Type VII
Alternate Names
Defective Genes
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
Inheritance
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
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.