DefinitionĬongenital hypertrophy of the retinal pigment epithelium (CHRPE) is a rare benign lesion of the retina, usually asymptomatic and detected at routine eye examination. However, this ophthalmological alteration may also be found in 1.2 to 4.4% of population. Since them, it has been considered a strong PAF marker and a common MEI, with reported incidence varying from 58 to 92%. History and incidenceĬHRPE was first described by Blair and Trempe in 1980. The present article aims to review and discuss the role of CHPE as a diagnostic marker in FAP patients. On interesting feature is the occurrence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). Some of them are represented by cutaneous epidermoid cysts, osteomas, dental malformations, desmoid tumors, gastroduodenal adenomas, central nervous system, hepatobiliary and thyroid neoplasms. Genetic testing is now considered the more accurate tool to identify affected relatives, besides its associated cost in some countries.Įventually, both benign and malignant extraintestinal manifestations (MEI) may be associated with this genetic disorder. Those patients should undergo prophylactic colectomy to avoid development of colorectal cancer.Īfter the diagnosis of the ''index'' case, descendants should undergo clinical, endoscopic and genetic evaluation as they have a 25-50% risk of inheriting the disease. PAF carriers may develop polyps throughout the gastrointestinal tract from the onset of adolescence, mainly in the colon. Others belong to families exhibiting a recessive pattern of inheritance determined by mutations if MUTYH gene. Key wordsįamilial adenomatous polyposis (FAP) congenital hypertrophy of the retinal pigment epithelium (CHRPE) APC gene IntroductionĬlassical Familial adenomatous Polyposis (PAF) is a genetic disease with autosomal dominant inheritance related to germline mutations in the APC gene. CHRPE is now considered a reliable clinical marker for FAP diagnosis and may in induce genetic analysis. Thus, fundoscopy should be included as part of the clinical evaluation of FAP patients, especially in pediatric patients, as it is an inexpensive, non-invasive, easily accessible and enforceable exam. Although retinal lesions may be present since birth, family members at risk for developing FAP are usually advised to undergo screening during the second decade of life, when colonic adenomas develop. Some of these patients may be diagnosed with some benign and malignant extraintestinal manifestations (MEI), one of them is the congenital hypertrophy of the retinal pigment epithelium (CHRPE). Mutation carriers usually develop polyps throughout the gastrointestinal tract at the beginning of adolescence, mainly in the colon. The majority of solitary CHRPE show slightly increased diameter, as observed in 74% to 83% of cases followed >5 years in two reported series ( 2, 6).Classical Familial Adenomatous Polyposis (PAF) is a genetic disease with autossomal inheritance related to germline mutations in the APC or MUTYH genes. The lacunae show enlargement in 32% of cases after a mean follow-up of 5 years ( 2). Most solitary CHRPE lesions have a typical depigmented ring or “halo” around the margin. Well-defined depigmented foci, called lacunae, are present in 43% of the pigmented CHRPE. The median largest basal diameter is 4.5 mm. The lesion is predominately pigmented in 88% and nonpigmented in 12% of cases. Only 2% are found in the macular or peripapillary region. As mentioned earlier, most are located in the midperipheral or peripheral fundus. It appears clinically as a well-demarcated flat to minimally elevated fundus plaque that can range from a black homogeneous lesion to a completely depigmented lesion ( 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16). A review of 330 cases of solitary CHRPE provided additional information regarding this condition ( 2).
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