Prevalence and Importance of Pigmented Ocular Fundus Lesions in Gardner's Syndrome

Abstract

We examined 134 members of 16 families with Gardner's syndrome for pigmented ocular fundus lesions. Of 41 patients with documented Gardner's syndrome, 37 (90.2 percent) had such lesions. The lesions were bilateral in 32 of the patients (78.1 percent) and in 2 of 42 controls (4.8 percent). 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 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. The lesions are probably congenital; they were observed in a three-month-old baby at risk. 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.

Gardner's syndrome: Genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: A case report

“…Screening colonoscopy should begin at age 10-12 years for patients who are known to have APC mutations [33] . Congenital hyper trophy of the retinal pigment epithelium (CHRPE) refers to the presence of characteristic pigmented fundus lesions that occur in 70%-80% of patients with FAP [9] . These ophthalmic manifestations are usually present at birth, largely preceding the development …”

“…The incidence of GS is lower and is characterized by Gardner' s triad: intestinal polyposis and various bone and softtissue tumors, including osteomas, epidermal inclusion cysts, lipomas, fibromas, and desmoid fibromatoses [4][5][6][7][8] . Cong enital hyper trophy of the retinal pigmented epithelium (CHRPE) [9] , dental malformations [10] , benign cystic lung tumours [11] , mesenteric fibromatosis, dental abnormalities, gastric polyps, duodenal polyps, lymphoid hyperplasia of the terminal ileum and ileal adenomas represent facultative signs. If left unchecked, patients with GS inevitably develop intestinal carcinoma at a much younger age than those with sporadic intestinal carcinoma [12] .…”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…Hypertrophy of retinal pigment epithelium is very common in Gardner syndrome and results in a pigmented ocular fundus [79]. Patients also frequently show multiple epidermoid cysts, lipomas and tumours of fibrous tissue including the Gardner fibroma that shows distinct histological features [80,81].…”

Familial adenomatous polyposis: from bedside to bench and vice versa

“…Over the past century clinicians have failed to distinguish, prior to the appearance of the polyps, between those individuals who were and those who were not carriers of the FAP gene (Bussey, 1975;Utsonomiya and Nakamura, 1975;Luk and Baylin, 1984;Traboulsi et al, 1987). Meera Khan was convinced that the availability of reliable genetic markers to detect carriers and non-carriers of the FAP gene would be of great help to physicians in counseling and planning timely treatment of the detected carriers-and to relieve the stress due to the uncertainty and ordeal of periodic investigations in the non-carriers (Meera .…”