網膜色素上皮層に初発あるいは主要病変部位がある黄斑ジストロフィ
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概要
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The concept of macular dystrophy denotes a group of disorders which arise in the posterior pole of the ocular fundus from an underlying enzymatic error or metabolic error defined by a respectively responsible gene. For the diagnosis of this disease, the following four criteria should be fulfilled: 1) binocular involvement, 2) a familial/hereditary disease, 3) no evidence of extrinsic etiologic factors, and 4) a progressive disease. Classification of macular dystrophy is indicated to be based on the particular site of initial development or location of principal lesion(s) in the laminated structure, comprising the lamina choroidocapillaris, Bruch’s membrane, retinal pigment epithelium and retinal neuroepithelium. currently, the site of lesion can now be identified clinically to some extent thanks to the spread of the fluorescence imaging examinations such as fluorescein angiography (FA) and indocyanine green angiography (IA), the electrophysiological examinations such as electroretinogram (ERG) and electro-oculogram (EOG), and the optical coherence tomography (OCT). In macular dystrophy with a principal lesion situated in the retinal pigment epithelium layer, clinical features vary diversely among individual patients and undergo changes with aging even within the same subject, and it is in no few instances difficult to diagnose the condition unless the patient is checked by lineage screening and followed by observations. As for diagnostic typing of this disorder, however, it is considered that there exists a type of disease which can be diagnosed almost definitely based on ophthalmoscopic findings, fluorescence funduscopic findings and retinal function assessments by EOG etc. Subgroups of macular dystrophy with a primary or principal lesion in the retinal pigment epithelium layer include vitelliform macular dystrophy, adult-onset foveomacular pigment epithelial dystrophy, pattern dystrophy of retinal pigment epithelium, and familial drusen. This report describes a case we have recently experienced.
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