Ophthalmic and Genetic creening in Pedigree With Familial Adenomatou Polypoi Original Reearch Article

Purpoe: To tudy the poible aociation between ophthalmic finding, genetic tatu, and clinical coure of the dieae in Autrian pedigree with familial adenomatou polypoi (FAP). Method: Thirty-nine member of 16 conecutive FAP familie with 20 affected patient and 19 relative with a 50% a priori rik to develop the dieae were examined ophthalmologically. The intetinal tatu of all peron wa etablihed by colonocopy. Direct or indirect molecular genetic analyi, or both, wa poible in eight of the 16 FAP familie. Reult: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) wa dicovered in 15 (75%) of the 20 peron affected by familial adenomatou polypoi. Five (25%) of the patient with an etablihed FAP were CHRPE-negative. Four of the 19 at-rik individual were CHRPE-poitive. According to DNA analyi, five of the 19 at-rik relative had a high rik to develop a manifet dieae. The ophthalmocopic tet were in complete agreement with the molecular rik etimation. Furthermore, the combined reult of endocopy and ophthalmocopy uggeted a relationhip between a poitive CHRPE tatu and the everity of FAP. Concluion: Ophthalmic examination facilitate predictive diagnoi in FAP patient and firt-degree relative, permitting a noninvaive, highly reliable rik aement. When preent, CHRPE leion are a reliable clinical marker for FAP in CHRPE-poitive familie. In CHRPE negative familie, negative ophthalmic examination are of no predictive value. The CHRPE tatu can add information about the location of the genetic mutation. The combination of an ophthalmic examination with DNA analyi and endocopy improve the rik aement of FAP carrier.