Dufek M A, Penn S
Nova Southeastern University, College of Optometry, Ft. Lauderdale, Florida, USA.
J Am Optom Assoc. 1998 Aug;69(8):510-8.
Pattern dystrophies of the retinal pigment epithelium, an arrangement of a pattern of dots, lines, or branches, are infrequent fundus abnormalities. Adult onset foveomacular vitelliform dystrophy (AOFVD) is considered a subtype of pattern dystrophy. Onset occurs during middle age, with an accumulation of yellow-gray macular deposits in the deeper retinal layers. Typically electro-oculograms are mildly subnormal or normal. Genetic studies suggest an autosomal dominant inheritance with variable penetrance.
A case of a 56-year-old Hispanic women with a 1-month onset of "wavy moving vision" in both eyes is presented. Previous ocular and family history were unremarkable. Ophthalmoscopic examination revealed yellow circumscribed subretinal lesions of one-third to one-half disk diameter in the foveal centers of both eyes. Fluorescein angiography revealed a circumscribed area of mottled hyperfluorescence surrounding a central hypofluorescent spot. The patient was diagnosed with AOFVD. Examination of the patient's children revealed retinal pigment epithelial disturbances in the two oldest daughters, consistent with pattern dystrophies.
Our investigation supports an autosomal dominant inheritance pattern, as seen on pedigree. The presence of different pattern dystrophies within the same family suggests a common etiologic continuum.
视网膜色素上皮的图案性营养不良，表现为点状、线状或分支状图案排列，是一种罕见的眼底异常。成人发病的黄斑中心凹卵黄样营养不良（AOFVD）被认为是图案性营养不良的一种亚型。发病于中年，在视网膜深层有黄灰色黄斑沉积物积聚。典型的眼电图轻度异常或正常。遗传学研究提示为常染色体显性遗传，外显率可变。
报告一例56岁西班牙裔女性，双眼出现“波浪状移动视力”1个月。既往眼部和家族史无异常。眼底检查发现双眼黄斑中心凹有直径为视盘三分之一至二分之一的黄色边界性视网膜下病变。荧光素血管造影显示围绕中央低荧光点的边界性斑驳高荧光区。该患者被诊断为AOFVD。对患者子女的检查发现两个年龄最大的女儿有视网膜色素上皮紊乱，符合图案性营养不良。
我们的研究支持系谱中所见的常染色体显性遗传模式。同一家族中存在不同的图案性营养不良提示有共同的病因连续体。
