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July 1979

Fenestrated Sheen Macular DystrophyA New Autosomal Dominant Maculopathy

Author Affiliations

From the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, Baltimore.

Arch Ophthalmol. 1979;97(7):1292-1296. doi:10.1001/archopht.1979.01020020034007

• A new, slowly progressive, autosomal dominant macular dystrophy was found in five patients from three generations of a family, with follow-up for as long as 27 years. The mild functional abnormalities of this dystrophy were roughly correlated with age; in the sixth decade of life, paracentral scotomatous areas were noted. The earliest ophthalmoscopic findings were present in a 4-year-old and consisted of a yellowish refractile sheen with red fenestrations within the sensory retina at the macula. By the third decade, an annular zone of hypopigmentation of the retinal pigment epithelium (RPE) appeared around the area of the sheen and progressively enlarged. Surrounding the annular zone of hypopigmentation and at its center was slightly hyperpigmented RPE (bull's-eye lesion). Fluorescein angiography showed no abnormalities in the sensory retina and intact perfusion of choriocapillaris.