Autosomal dominant dystrophy of the retinal pigment epithelium
F. E. O'Donnell, H. Schatz, P. Reid and W. R. Green
This study describes a salt-and-pepper fundus appearance in nine relatives
in three generations of a single white kindred. Two of these patients also
had subretinal patterned pigment figures by ophthalmoscopy. In another,
fluorescein angiography showed a reticular pattern that was not apparent by
ophthalmoscopy. This dystrophy was functionally benign, although the
electro-oculogram ratio was abnormal in affected patients. This pigmentary
dystrophy and fundus pulverulentus, reticular dystrophy of Benedikt and
Werner, and pattern dystrophy of Marmor and Byers are indistinguishable.
When patterned pigment figures are absent, this autosomal-dominant
pigmentary dystrophy of the retinal pigment epithelium can be confused with
other disorders such as congenital rubella retinopathy and drug toxicity.
