Familial internal limiting membrane dystrophy. A new sheen retinal dystrophy
T. D. Polk, J. D. Gass, W. R. Green, M. A. Novak and M. W. Johnson
Bascom Palmer Eye Institute, University of Miami School of Medicine, Fla., USA.
OBJECTIVE: To describe the clinicopathologic features of a previously
unreported retinal dystrophy. METHODS: Fourteen members of a single family
were examined. The medical records of 2 additional family members were
reviewed. Pathologic examination was performed on 2 eyes of 1 affected
patient. RESULTS: Five individuals were identified with a retinal dystrophy
characterized by a glistening inner retinal surface throughout the
posterior pole. Visual loss occurred in 3 affected patients in later life
owing to superficial polycystic retinal edema and retinal folds.
Electroretinographic testing revealed a selective diminution of the b wave.
Pathologic examination revealed an abnormal internal limiting membrane with
schisis cavities in the inner retina. Endothelial cell swelling, pericyte
degeneration, and basement membrane thickening were present in retinal
capillaries. CONCLUSIONS: A previously unreported sheen retinal dystrophy
is described. Pedigree analysis suggests an autosomal dominant mode of
inheritance. A primary defect in Muller cells is the suspected, but
unproved, cause. No effective treatment for the associated visual loss is
known. The term familial internal limiting membrane dystrophy is proposed
to describe this condition.
