Familial Internal Limiting Membrane Dystrophy

Electrophysiological evaluation of visual loss in Muller cell sheen dystrophy

“…23 Histologically, a diffuse thickening and an undulation of the internal limiting membrane with small inner retinal schisis cavities have been demonstrated in Müller cell sheen dystrophy 12 We can speculate that the primary defect in this disorder is within the Müller cells.…”

“…2 The functional result includes the deterioration of the b-wave amplitude and the delayed implicit times, as seen in the right eye of our patient. The widespread increased retinal vascular permeability in the late stage of the disease, as observed in some patients,1 2 may be due to secondary damage to retinal capillaries, which are surrounded by a Müller cell basement membrane 124 It is reasonable to assume that the most severe folding occurs at the posterior pole since the internal limiting membrane is thicker at the posterior pole than in the periphery 23…”

“…2 The term “familial internal limiting membranopathy” was initially suggested,1 but was subsequently renamed “dominantly inherited Müller cell sheen dystrophy” 2. There is both histological1 2and, as demonstrated in this study, electroretinographic evidence for a Müller cell defect in this disorder. We therefore chose to adopt the term “Müller cell sheen dystrophy” in this paper.…”

“…Electrophysiological examinations were performed1 3; however, detailed information with regard to recording techniques or normative data was not given. Electro-oculography (EOG) was described as subnormal in one eye and normal in other patients 1…”

“…Electro-oculography (EOG) was described as subnormal in one eye and normal in other patients 13In the electroretinogram (ERG) b-wave amplitudes were reduced 1…”