![]() ![]() In addition, DNM1L clusters were not associated with mitochondrial constriction sites in mutant fibroblasts. Mitochondria in mutant cells showed a highly elongated, hyperfilamentous, and tubulated network with a decrease in the number of mitochondrial extremities, suggesting an impairment of mitochondrial fission. Patient fibroblasts showed that the mutant proteins were expressed, were able to dimerize with wildtype DNM1L, and formed aggregates in both the cytoplasm and on the mitochondrial network. The mutations segregated with the disorder in all 3 families. The mutations in the first 2 families were found by exome sequencing and confirmed by Sanger sequencing the mutation in the third family was found by direct sequencing of the DNM1L gene. In affected members from 3 unrelated French families with OPA5, Gerber et al. The phenotype of these patients had not changed significantly from the original report. (2005): family A was referred to as family 2, and family B was referred to as family 3. (2017) reported follow-up of the families reported by Barbet et al. One individual had moderate hearing loss, but otherwise, none had additional neurologic findings. ![]() Visual evoked potentials were moderately to severely impaired. All had temporal pallor of the optic discs, and a reduction of retinal nerve fiber layer thickness around the optic nerve head. Three patients had central scotoma, and 2 had moderate color vision defects. However, all had abnormalities on detailed eye studies, including narrowing of the visual fields. The youngest patient was asymptomatic, the 14 year-old had moderate photophobia, and the older patients had decreased visual acuity beginning at 35 and 45 years, respectively. Four patients from 2 generations were examined they were 10, 14, 40, and 49 years of age. (2017) reported a large multigenerational French family (family 1) in which 8 individuals, 5 of whom were still living, had nonsyndromic optic atrophy. Electroretinogram recordings were normal, but visual evoked potential recordings were moderately altered in the early stages and severely impaired in the later stages. Color vision was moderately impaired, varying from normal to blue-yellow dyschromatopsia after several years of evolution, patients showed a severe dyschromatopsia without axis. Visual acuity decreased slowly, perhaps related to a central scotoma. All of the examined patients had optic nerve pallor. Although the age of onset was in the first decade in one family and in the third decade in the other, the phenotype was similar in both families and resembled that of patients with mutations in the OPA1 gene. (2005) described 2 unrelated 3-generation French families (families A and B) with autosomal dominant optic atrophy. ![]()
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