Isolated "clinical anophthalmia" in an extensively affected Arab kindred.
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.
Kohn
G
G
Institute of Medical Genetics, Beilinson Medical Center, Petah Tiqva, Israel.
el Shawwa
R
R
el Rayyes
E
E
D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000235:genetics* / Q000473:pathology