Ophthalmic genetics · 2011
A unique presentation of grouped congenital hypertrophy of the retinal pigment epithelium.
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Turell Mary E, Leonardy Nicholas J, Singh Arun D
Аннотация
PURPOSE: To describe a unique presentation of grouped congenital hypertrophy of the retinal pigment epithelium (CHRPE) and to review the clinical features which differentiate grouped CHRPE from the pigmented ocular fundus lesions (POFLs) associated with familial cancer syndromes.
METHODS: Report of a case.
RESULTS: A 28-year-old asymptomatic, Caucasian female demonstrated multiple small, flat, dark brown to black clusters of retinal pigment epithelium (RPE) hypertrophy on dilated fundus examination of both eyes. These plaque-like lesions were circumferential along the peripheral fundus and were associated with smaller foci of pigmentation oriented towards the posterior pole. The appearance was consistent with grouped pigmented CHRPE. A unique, co-existing feature was the presence of non-pigmented, punctate lesions located within the maculae suggestive of grouped non-pigmented CHRPE. Fluorescein angiography demonstrated persistent hypofluorescence correlating with the clinically observed areas of hyperpigmentation and hypopigmentation.
CONCLUSIONS: The combination of both pigmented and non-pigmented lesions occurring in the same individual with grouped CHRPE is rare. It is important to distinguish grouped CHRPE lesions from the POFLs associated with familial cancer syndromes.
METHODS: Report of a case.
RESULTS: A 28-year-old asymptomatic, Caucasian female demonstrated multiple small, flat, dark brown to black clusters of retinal pigment epithelium (RPE) hypertrophy on dilated fundus examination of both eyes. These plaque-like lesions were circumferential along the peripheral fundus and were associated with smaller foci of pigmentation oriented towards the posterior pole. The appearance was consistent with grouped pigmented CHRPE. A unique, co-existing feature was the presence of non-pigmented, punctate lesions located within the maculae suggestive of grouped non-pigmented CHRPE. Fluorescein angiography demonstrated persistent hypofluorescence correlating with the clinically observed areas of hyperpigmentation and hypopigmentation.
CONCLUSIONS: The combination of both pigmented and non-pigmented lesions occurring in the same individual with grouped CHRPE is rare. It is important to distinguish grouped CHRPE lesions from the POFLs associated with familial cancer syndromes.