Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.
de Crecchio
G
G
Eye Clinic, University of Naples, Italy.
Simonelli
F
F
Nunziata
G
G
Mazzeo
S
S
Greco
G M
GM
Rinaldi
E
E
Ventruto
V
V
Ciccodicola
A
A
Miano
M G
MG
Testa
F
F
Curci
A
A
D'Urso
M
M
Rinaldi
M M
MM
Cavaliere
M L
ML
Castelluccio
P
P
D000328:Adult; D002648:Child; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D009679:Nuclear Family; D010375:Pedigree; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics* / Q000473:pathology