Pigmented ocular fundus lesions associated with familial adenomatous polyposis. In the peripheral retina, are visible vitreous veils (red arrow). Retinoschisis appears as (A) a spoke-wheel pattern on fundus photographs of the macula and (B) dark spaces in optical coherence tomograms. Retinal pigment epithelial lesions associated with a sporadic case of familial adenomatous polyposis. These eye abnormalities can further impair vision or cause blindness. Alsberge JB, Peng MY, Agarwal A, McDonald HR. Ocular manifestations of familial adenomatous polyposis (Gardner syndrome). The natural history of familial adenomatous polyposis syndrome: a 24 year review of a single center experience in screening, diagnosis, and outcomes. Kennedy RD, Potter DD, Moir CR, El-Youssef M. ![]() Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP) a polyposis registry experience. Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe PC, Deen KI. Gardner’s syndrome: a case report and review of the literature. Fotiadis C, Tsekouras DK, Antonakis P, Sfiniadakis J, Genetzakis M, Zografos GC. Specifically, FAP retinal lesions tend to be oval with a marginal gray or depigmented halo. The differential of these pigmented lesions includes solitary and grouped CHRPE, or “bear tracks.” 5 These RPE lesions are histologically different from FAP retinal lesions and have a distinct clinical appearance, demonstrated in the Figure. 5 These lesions are asymptomatic and have little visual significance other than to prompt further evaluation for FAP. 1-7 Lesions are atypical, multiple, bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE) with a round or oval shape and a “fishtail” hypopigmented area at one or both ends. 2 These benign retinal lesions are found in 50% to 90% of patients with FAP and are often present at birth. Pigmented fundus lesions are the most common and earliest extracolonic manifestations of FAP. 1,4 However, de novo mutations (new mutations with no family history) account for 20% to 30% of cases. FAP is autosomal dominant and, as such, half of the children of an affected parent will develop FAP. 1 This mutation does not trigger cancer, but instead reduces the body’s ability to prevent cells from becoming cancerous. 1 Early diagnosis and appropriate treatment is essential for patients with this condition.įAP is caused by mutations in the adenomatous polyposis coli gene, which is a tumor-suppressing gene located on chromosome 5. 1-3 When associated with extracolonic lesions, such as pigmented retinal lesions, desmoid tumors, osteomas, dental anomalies, or sebaceous or epidermoid cysts, the condition is known as Gardner syndrome, 1,4 as first described in 1952 by Eldon J. These polyps eventually transform into colorectal cancer (7% risk by age 21, increasing to 87% by age 45 and 93% by age 50). The hallmark pathologic finding of familial adenomatous polyposis (FAP) is the development of hundreds to thousands of polyps in the colon and rectum by the second decade of life. VA was 20/20 and anterior examination was normal in each eye however, a dilated eye exam revealed multiple bilateral pigmented retinal lesions (four OD and six OS). This patient was first seen for a routine eye exam at 7 years of age. Lesions may be isolated or multiple, with radial or circumferential crisscrossing lines, and in some cases have tiny white or yellowish deposits, pigment clumps, atrophic holes, or retinal tears. This degeneration can have an oval or linear pattern of lesions with either single or grouped distribution. Vitreoretinal adhesions at the margins of the lesion are a common finding. ![]() The degenerative changes comprise retinal thinning with subsequent fibrosis and vitreous liquefaction over the lesion (lacuna). This condition affects both retina and vitreous, and is considered a severe peripheral vitreochoreoretinal degeneration with risk of retinal tears and rhegmatogenous retinal detachment caused by vitreous traction. Lattice degeneration is found in 6–8 % of eyes in general population. May be encircled by hyper- or hypo-pigmented halo. Signs: Well-demarcated, round, solitary or multiple gray-brown or black lesions which have flat or scalloped margins. Lattice degeneration (Table 5.3) appears as retinal thinning with the loss of neurosensory layer and marked vitreoretinal adhesion at the margins of the lesion. 'Bear Tracks' CHRPE Benign pigmented fundus lesions that commonly discovered during routine eye examination.
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