Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males
F. E. O'Donnell Jr, R. A. King, W. R. Green and C. J. Witkop Jr
A new form of ocular albinism, autosomal recessively inherited ocular
albinism (AROA), was studied in seven females and two males from five
unrelated Caucasian kindreds. Affected patients have the impaired vision,
translucent irides, congenital nystagmus, photophobia, albinotic fundi with
hypoplasia of the fovea, and strabismus that are also found in X-linked
ocular albinism (XOA). Unlike XOA, however, this form of ocular albinism is
inherited as an autosomal recessive trait, with females affected as
severely as males. Obligate heterozygotes of AROA lack the ocular
abnormalities that are present in females heterozygous for XOA. Also, skin
and hairbulb biopsy specimens do not reveal any abnormalities in patients
with AROA, whereas giant pigment granules are found in patients
heterozygous and hemizygous for XOA. The recognition of this disorder is
imperative for proper diagnosis and responsible genetic counseling.
