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X‐CHROMOSOMAL OCULAR ALBINISM IN A DUTCH FAMILY *
Author(s) -
WAARDENBURG P. J.,
BOSCH J.
Publication year - 1956
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1971.tb00270.x
Subject(s) - albinism , nystagmus , genetics , biology , hypoplasia , offspring , medicine , audiology , anatomy , pregnancy
SUMMARY A large Dutch family stock with X‐ chromosomal ocular albinism is recorded. The first generations have been formerly described by Engelhard as cases of hereditary nystagmus. This nystagmus was present indeed in all the males and in the only female person affected, but it proved to be a secondary one. The patients showed a kind of albinoidism of the tapetum, which was not quite devoid of pigment. It was combined with a hypoplasia of the fovea as in generalized albinism. The question is discussed whether this type of albinism is fully restricted to the eye or not. The mode of inheritance is an intermediate one. The female carriers are recognizable as heterozygotes by diascleral translucency of their irides and by irregular peripheral pigmentation of their fundi. The method of examination employed by the authors is described. Stress is laid upon the practical value of this research because it is now possible for daughters of transmitter females to obtain a scientifically justified prognosis for their eventual offspring.