Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family.
Three Sicilian siblings had a typical cone-rod dystrophy. The same ocular anomaly was probably present in their mother and in the maternal grandmother. The three probands were also carriers of Hb S, but this last anomaly was also present in an unaffected brother. It is concluded that the cone-rod dystrophy of this family is inherited as an autosomal dominant character and that its association with sickle-cell trait is coincidental.
Gorgone
G
G
Li Volti
S
S
Tomarchio
S
S
Pavone
L
L
Profeta
G
G
Mollica
F
F
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics*; D008297:Male; D012805:Sickle Cell Trait / Q000150:complications / Q000235:genetics*