Premium
Isolated “clinical anophthalmia” in an extensively affected Arab kindred
Author(s) -
Kohn Gertrude,
Shawwa Raghda El,
Rayyes Eyyas El
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb03458.x
Subject(s) - microphthalmia , anophthalmia , genetics , kinship , genetic counseling , inheritance (genetic algorithm) , medicine , biology , gene , political science , law
A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.