Sixty-two cases with retinitis pigmentosa from 42 index families were
investigated to reveal the genetic features of the disease in Turkey.
There were 42 propositi of whom 5 had a systemic syndrome associated w
ith retinitis pigmentosa. Of the remaining 37 cases the condition was
autosomal recessive in 21 (56.8%), sporadic in 12 (32.4%), autosomal d
ominant in 3 (8.1%) and X-linked recessive in one (2.7%). Sporadic cas
es may be more frequent as many hereditary cases are not brought to me
dical attention in rural families. Male preponderance among sporadic c
ases may indicate that there may be more X-linked cases. Nine out of 2
1 cases initially classified as sporadic displayed parental consanguin
ity and they were included as having autosomal recessive trait. Large
families with autosomal recessive inheritance may prove valuable in li
nkage analysis and in defining future gene abnormalities.