Abstract
Retinal examination by indirect ophthalmoscopy was performed on seventy members from 20 kindreds demonstrating the clinical manifestations of familial adenomatous polyposis and forty controls. Thirty-four of 43 affected patients manifested CHRPE lesions compared with 2 of 27 at risk and 2 of 40 controls giving a sensitivity of 79% and specificity of 95% based on the control group. The difference between the affected and at risk groups was significant (Chi-squared=34.098, 1 df, P=0.001). The low sensitivity and variation in incidence of CHRPE in FAP patients and general population documented in the world literature prevent its use as a sole marker for the condition. With advances in knowledge of the disease at a molecular level it is now possible to alter risks for families by DNA analysis. There remain a number of patients in whom such techniques do not significantly alter risks. In these families by combining the results of DNA analysis, sigmoidoscopy and retinal examination it may be possible to alter risks by a significant degree. Retinal examination should be reserved for those families in whom risks cannot be altered sufficiently by DNA analysis alone.
Résumé
L'examen de la rétine à l'ophtalmoscopie indirecte a été réalisée chez 70 membres de 20 fratries présentant les manifestations cliniques d'une polypose familiale ainsi que chez 40 sujets témoins. Trente-quatre des 43 patients porteurs d'une hypertrophie congénitale de l'épithélium pigmentaire rétinien (CHRPE) on été comparés avec 2 des 27 patients à risque et 2 de 40 sujets témoins donnant une sensibilité de 75% et une spécificité de 95% par rapport au groupe contrôle. La différence entre les patients porteurs d'une CHRPE et ceux d'un groupe à risque est significative (CHI-2=34,798, 1 DF, P=0,001). La sensibilité basse et des variations de l'incidence de CHRPE chez des patients porteurs de polypose adénomateuse familiale ainsi que dans la population en général telle qu'établie dans la littérature mondiale nous ont retenus de considérer cette lésion comme le seul marquer d'une polypose. Les progrès dans la connaissance de la maladie au niveau moléculaire nous permettent de diminuer le risque familial par l'analyse du DNA. II subsiste un certain nombre de patients chez lesquels de telles techniques ne modifient pas le risque de façon significative. Dans ces families, la combinaison du résultat des analyses du DNA, la sigmoïdoscopie et l'examen de la rétine permettent de modifier le risque de manière significative. L'examen de la rétine doit être réservé aux families dans lesquelles le risque ne peut pas être modifié de manière suffisante par la seule analyse du DNA.
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Campbell, W.J., Spence, R.A.J. & Parks, T.G. The role of congenital hypertrophy of the retinal pigment epithelium in screening for familial adenomatous polyposis. Int J Colorect Dis 9, 191–196 (1994). https://doi.org/10.1007/BF00292248
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DOI: https://doi.org/10.1007/BF00292248