No symptoms or associations were found, and no abnormalities were found in the fellow eye. The evidence found appears to support the theory that increasing atrophy is related to flat, overall enlargement of the lesion. The progression of the condition could not be accurately described without follow-up. All lesions found were of previously documented shapes and sizes, and divided approximately evenly between those with and without depigmented haloes and lacunae all were monocular. CHRPE was found to be most commonly located temporally to the optic disc within the peripheral fundus. The prevalence of CHRPE was found to be 1.20%. Optomap images of 1745 consecutive patients obtained at a recent optometric examination were examined retrospectively. The Optomap imaging system uses an ultra-wide-field scanning-laser ophthalmoscope to image the fundus at the choroidal and retinal levels, non-mydriatically, capturing an image of up to 200 degrees. In this study we aimed to determine the prevalence, features and associations of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the optometric population. The multiplicity of the pigmented fundus lesions and their association with diffuse disturbances of the retinal pigment epithelium in the same eye suggest a widespread expression of the abnormal gene in the retinal pigment epithelial cells. The lesions are probably congenital they were observed in a three-month-old baby at risk. The presence of bilateral lesions, multiple lesions (more than four), or both appeared to be a specific (specificity, 0.952) and sensitive (sensitivity, 0.780) clinical marker for Gardner's syndrome. Twenty (46.5 percent) of 43 first-degree relatives at 50 percent risk for Gardner's syndrome had bilateral pigmented fundus lesions, indicating that they had probably inherited the abnormal gene. The lesions were bilateral in 32 of the patients (78.1 percent) and in 2 of 42 controls (4.8 percent). Of 41 patients with documented Gardner's syndrome, 37 (90.2 percent) had such lesions. We examined 134 members of 16 families with Gardner's syndrome for pigmented ocular fundus lesions. ![]() ![]() It appears that solitary CHRPE and congenital grouped pigmentation differ clinically from the multiple pigmented lesions seen with familial adenomatous polyposis and that patients with these conditions, as well as their relatives, are not at a greater risk of developing intestinal cancer. This is much lower than would be expected from a survey of patients with the typical fundus lesions seen with familial adenomatous polyposis. Among more than 2000 of their blood relatives, only 20 had intestinal polyposis or colonic cancer (1%). Of the 132 patients with previously diagnosed CHRPE, there were none with familial adenomatous polyposis, Gardner syndrome, or intestinal cancer, and only one patient had a history of intestinal polyps. Patients and their physicians were contacted by telephone to complete a detailed questionnaire designed to detect signs or symptoms of familial adenomatous polyposis or Gardner syndrome among these patients with CHRPE and their relatives. Review of charts and follow-up studies were performed on all patients diagnosed and coded as having solitary CHRPE or its multifocal variant (congenital grouped pigmentation bear tracks). This study was undertaken to determine whether the typical lesions of CHRPE, seen frequently by ophthalmologists, also were indicators of familial adenomatous polyposis. ![]() Although atypical, such lesions have been called congenital hypertrophy of the retinal pigment epithelium (CHRPE). It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial adenomatous polyposis who are prone to develop intestinal cancer, particularly if there is a positive family history of these intestinal disorders.
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