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  • Title: Progressive external ophthalmoplegia associated with retinal pigment epitheliopathy.
    Author: Daniele S, Cianchetti C, Cao A.
    Journal: Am J Ophthalmol; 1975 Oct; 80(4):585-90. PubMed ID: 1180302.
    Abstract:
    The diagnosis of ocular myopathy associated with a primary retinal pigment epitheliopathy in a 20-year-old man was based on the integrity of the retinal functions, despite progressive worsening of muscular activity in the systems affected by the disease, and on the results of retinal fluorescein angiography. Although the changes in the pigment epithelium were not prominent ophthalmoscopically, they were clearly visible angiograpically. Atypical forms of retinal pigment dystrophy occurring during the course of ocular myopathy appear to be clinical expressions of a unique genetic defect confined to the pigment epithelial layer. We assume that the gene is capable of inducing a pleiotropic effect.
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