Congenital hypertrophy of the retinal pigment epithelium associated with familial adenomatous polyposis.
OBJECTIVE
Multiple, bilateral areas of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in association with familial adenomatous polyposis (FAP). Histopathologic findings have suggested a generalized effect of the FAP gene on the RPE, which could impair the functional integrity of the RPE. The clinical, psychophysical, electrophysiologic, and fluorescein angiographic findings in CHRPE in subjects with FAP were assessed.


METHODS
RPE function was assessed in 7 subjects with CHRPE and a family history of FAP. Four had documented FAP (mean age = 22.25 years) and the other three were siblings of affected subjects, with a 50% risk of developing FAP (mean age = 6.33 years). All subjects underwent comprehensive ophthalmologic examination.


RESULTS
All subjects showed mild hyperopia (mean, +1.13 D; best corrected visual acuity, 20/20 or better). On perimetry, there were scotomas corresponding to some lesions. ERG showed normal rod, maximal, single-flash cone, and flicker responses. Light-dark ratio was within the normal range on EOG. Fluorescein angiography demonstrated normal retinal vasculature overlying the CHRPE lesions, which blocked background choroidal fluorescence. A normal choriocapillaris was observed through some hypopigmented lacuna.


CONCLUSIONS
CHRPE has been related to generalized expression of an abnormal gene in RPE, but its functional abnormalities tend to be localized.
Santos
A
A
Laboratorio de Electrofisiología, Hospital Dr. Luis Sanchez Bulnes, D.F., México.
Morales
L
L
Hernandez-Quintela
E
E
Jiménez-Sierra
J M
JM
Villalobos
J J
JJ
Panduro
A
A
D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D015415:Biomarkers; D002648:Child; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000151:congenital; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology* / Q000503:physiopathology; D014792:Visual Acuity
D015415:Biomarkers