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Valentina Franco-Cardenas, Jose Dalma-Weiszhausz, Rosa Martinez-Munoz, Alejandro Dalma; SD-OCT Progressive Alterations in a Family Affected with Müller Cell Sheen Dystrophy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):5921.
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© ARVO (1962-2015); The Authors (2016-present)
Müller cell sheen dystrophy is a late onset autosomal dominant bilateral symmetric retinal disorder characterized by a wrinkled sheen-like appearance involving the posterior pole first reported by our group in 1991. The purpose of this study is to describe the spectral-domain optical coherence tomography (SD-OCT) findings in retinal architecture occurring during different stages of the disease in an affected family
Case series. Forty-eight patients spanning three generations of a single family affected by Müller cell sheen dystrophy underwent full ophthalmological evaluation and SD-OCT on the same day. SD-OCT was evaluated for presence of posterior vitreous detachment (PVD), cysts location, foveal thickness and IS/OS disruption. Findings were cross-related to the patients visual acuity and age
Ten patients (19 eyes) affected with Müller cell sheen dystrophy presented with macular alterations on SD-OCT and were included in this case series. SD-OCT alterations presented as cystic spaces. The youngest patient with an altered SD-OCT was 48 years old. SD-OCT alterations increased with age and visual acuity declined over time. Alterations started in the internal layers of the retina and extended towards the external layers with time. None of the patients presented with a PVD. First, cystic spaces were noted between de internal limiting membrane (ILM) and retinal nerve fiber layer (RNFL): this change was noted in 19 eyes. The second change noted was optically empty spaces in the ganglion cell layer (GCL) in 16 eyes, followed by cysts in the inner nuclear layer (INL) in 14 eyes. When these cystic spaces reached the outer nuclear layer (ONL) the fovea became involved (10 eyes), macular edema appeared and visual acuity declined. End-stage changes included loss of the layered architecture of the retina (3 eyes) with significant retinal atrophy and IS/OS disruption (2 eyes)
SD-OCT changes in patients affected with Müller cell sheen dystrophy appear around the 5-6th decade of life. Small cystic spaces begin to appear around the arcades in the internal layers of the retina, they progress toward the external layers finally disrupting retinal architecture. Müller cells are present in all layers affected. This correlates with previous ERG findings, pointing towards Müller cell dysfunction. It is possible that the cystic spaces seen on SD-OCT are a result of Müller cell degeneration
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