Hereditary macular dystrophies are a heterogeneous group of inherited rare disorders that share basic characteristics. Symmetric, bilateral, and often familial involvement of the posterior pole is typical. The most recently accepted clas- sification is based on the primary localization of the defect within the retinal and/or choroidal layers as confirmed by clinical, histopathologic, and functional studies. Fluorescein angiography (FA) and indocyanine green angiography (ICG-A) are good methods to evaluate the morphology and the range of macular changes. Fundus autofluorescence, a noninvasive diagnostic tool, plays an important role in the differential diagnosis of retinal dystrophies. It visualizes dis- ease-specific distribution of lipofuscin in the retinal pigment epithelium (RPE), often not (yet) visible on ophthalmoscopy and imagines well-defined areas of RPE atrophy.
Macular Distrophies
Reibaldi M;FARO, Salvatore;
2008-01-01
Abstract
Hereditary macular dystrophies are a heterogeneous group of inherited rare disorders that share basic characteristics. Symmetric, bilateral, and often familial involvement of the posterior pole is typical. The most recently accepted clas- sification is based on the primary localization of the defect within the retinal and/or choroidal layers as confirmed by clinical, histopathologic, and functional studies. Fluorescein angiography (FA) and indocyanine green angiography (ICG-A) are good methods to evaluate the morphology and the range of macular changes. Fundus autofluorescence, a noninvasive diagnostic tool, plays an important role in the differential diagnosis of retinal dystrophies. It visualizes dis- ease-specific distribution of lipofuscin in the retinal pigment epithelium (RPE), often not (yet) visible on ophthalmoscopy and imagines well-defined areas of RPE atrophy.File | Dimensione | Formato | |
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