Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
de Crecchio, Giuseppe a; Simonelli, Francesca a; Nunziata, Giuseppe a; Mazzeo, Salvatore a; Greco, Giovanni Maria a; Rinaldi, Ernesto a; Ventruto, Valerio b; Ciccodicola, Alfredo b; Miano, Maria Giuseppina b; Testa, Francesco b; Curci, Anna b; D'Urso, Michele b; Rinaldi, Maria Michela c; Cavaliere, Maria Luigia c; Castelluccio, Pia c
[Report]
Clinical Genetics.
54(4):315-320, October 1998.
(Format: HTML)
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.
(C) 1998 Munksgaard International Publishers Ltd.