No abstract

Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation. ISC proteins are involved in enzymatic catalysis, gene expression, and DNA replication and repair. We observed deregulated iron homeostasis in FDXR mutant fibroblasts and indirect evidence of mitochondrial iron overload. Functional complementation in a yeast strain in which ARH1, the human FDXR ortholog, was deleted established the pathogenicity of these mutations. These data highlight the wide clinical heterogeneity of mitochondrial disorders related to ISC synthesis.

No abstract

Densiron 68 appeared to be an efficient endotamponade agent in selected retinal detachments treated with large inferior retinectomy. It avoids fluid accumulation under the inferior retina and seems to limit the rate of inferior retinectomy reopening.

Endothelial decompensation is a serious complication of phakic intraocular lens (pIOL) implantation and is a major concern during the postoperative period. We report 3 eyes in which the same foldable angle-supported pIOL was implanted to correct high myopia. Rapid and severe postoperative endothelial cell loss occurred in all 3 eyes. An over-sized pIOL that induced excessive vaulting into the anterior chamber was the main risk factor. In 2 eyes, the pIOL was explanted uneventfully; 1 eye required Descemet's stripping automated endothelial keratoplasty because of total endothelial decompensation. These cases illustrate the importance of accurate sizing of foldable angle-supported anterior chamber pIOLs to avoid excessive vaulting. They also highlight the importance of regular follow-up and preventive pIOL explantation as soon as significant endothelial cell loss is detected.

Age ≥10, optic disc pallor and MS were associated with poor recovery. Better identification of these patients may help to adapt treatment and lead to a prospective treatment study.

The preservation of vitreous fluid cells on culture medium led to the diagnosis of retinal lymphoma in 10 of 12 cases, and exclusion of this diagnosis in 26 cases. This protocol may be applied even when the delay in shipping from the surgery to the pathology departments exceeds 1 h.

No abstract