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¹M.D. Asistant, Sisli Etfal Training and Research Hospital, Eye Clinic, İstanbul/TURKEY
²M.D. Associate Professor, Sisli Etfal Training and Research Hospital, Eye Clinic, İstanbul/TURKEY A 36 years old woman, who suffered from blurred vision in both eyes, referred to our clinic at December 2012. Uncorrected visual acuity was 1.0 in both eyes. The routine biomicroscopic evaluation revealed. Bilateral anterior segments were normal. The fundus examination pointed out, left eye was normal, the right eye had pigmented, well demarcated, oval shaped lesions in the periphery of the retina. The lesions were compatible with congenital hypertrophy of retinal pigment epithelium(CHRPE). These lesions are known to associate with some sistemic disorders. When the patient was interrogated, It was learned that her mother, uncle, aunt and three cousins had colon cancer history. The patient was referred to General Surgery Clinic with the preliminary diagnosis of familial adenomatous polyposis (FAP). When colonoscopy was performed, multiple polyps were demonstrated at the anal canal, rectum and colon and diagnosis of FAP was confirmed with the simultaneous biopsy. Due to the high risk of colon cancer development, ‘total colektomy, ileoanal anastomosis and deflector ileostomy' was applied. She had two children; a 4 years old girl and a 14 years old boy. The boy had CRPEH bilaterally while the girl's ophthalmic examination was normal. The children were referred to the General Surgery Clinic. Sigmoidoscopy was performed for both children and the boy was diagnosed to have a few polyps. We aimed to present this case because of it's rare insidans and mortal results when diagnosed late. Keywords : Familial adenomatosis polyposis, congenital hypertrophy of retinal pigment epithelium, colon cancer