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Value of the Congenital Hypertrophy of the Retinal Pigment Epithelium in the Diagnosis of Familial Adenomatous Polyposis

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Abstract

Background: Several kinds of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in patients with familial adenomatous polyposis (FAP). This study aims to assess which properties of CHRPE better predict FAP and investigate whether a relationship exists between specific CHRPE characteristics and FAP variants. Methods: We examined 286 subjects, Group I — patients with FAP plus individuals “at risk”; n = 173; Group II — controls n = 113. Retinal lesions were classified in five types (A–E) and different characteristics (distribution, number, shape, size, pigmentation and site) were evaluated. Results: The most common lesions in affected subjects were types A–D (83.4%) whilst in the “at risk” and control groups were type E. Greater numbers of lesions and bilateral distribution occurred more frequently among affected subjects than in other participants (p < 0.001). Large lesions with mixed pigmentation were associated with polyposis (p > 0.5). Controls had solitary CHRPE lesions (3.5%) and types C and E lesions (23%). The cumulative sensitivities and specificities of CHRPE were 42 and 97%, respectively. CHRPE was most common among those with classical FAP, but no specific characteristic was associated with any particular FAP variant. Conclusions: Pigmented fundal lesions are highly pleomorphic and represent the variable expression of a common genetic defect of growth regulation. No association was found between CHRPE characteristics and specific FAP variants.

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Authors and Affiliations

  1. Department of Ophthalmology, School of Medicine, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

    Rosario Touriño, Teresa Rodríguez-Aves, Ma Jesús López-Valladares & Carmen Capeans

  2. Department of Surgery, School of Medicine, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

    Rogelio Conde-Freire

  3. Department of Medicine, School of Medicine, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

    José M. Cabezas-Agrícola

  4. Department of Statistic, School of Medicine, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

    José L. Otero-Cepeda

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  1. Rosario Touriño
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  2. Rogelio Conde-Freire
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Correspondence to Rosario Touriño.

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Touriño, R., Conde-Freire, R., Cabezas-Agrícola, J.M. et al. Value of the Congenital Hypertrophy of the Retinal Pigment Epithelium in the Diagnosis of Familial Adenomatous Polyposis. Int Ophthalmol 25, 101–112 (2004). https://doi.org/10.1023/B:INTE.0000031739.62559.ac

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  • DOI: https://doi.org/10.1023/B:INTE.0000031739.62559.ac

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