Congenital hypertrophy of retinal pigment epithelium. Presentation of a patient

Abstract

A 24-year-old asymptomatic female patient, with no personal or family history of ophthalmologic or general disease, came to the Ophthalmology Consultation. In a fundus exam conducted for the study of her strabismus when she was one year old, some pigmentation were noticed in the retina and she was diagnosed with retinitis pigmentosa, a diagnosis which was maintained for 22 years until she came to our clinic. There the patient underwent a complete functional study that included an electroretinogram, an electrooculogram, Goldmann kinetic perimetry and the Farnsworth Munsell Hue test. The diagnosis of retinitis pigmentosa was ruled out as all tests were normal and she had no symptoms of it. It was concluded that the patient presents a congenital hypertrophy of retinal pigment epithelium with a different prognosis. The importance of these studies for the differential diagnosis of other retinopathies, which also produce retinal pigmentation, is highlighted.

Keywords

• hipertrofia
• epitelio pigmentado de la retina
• electrooculografía
• electrorretinografía