Visual acuity information and scotomata were documented. Twenty-six patients had known mutations in achromatopsia and cone dystrophy genes, while 53 were characterized by their inheritance pattern since they had yet to have their gene identified. METHODS: We reviewed charts of 112 patients with various types of cone dystrophy, and compared their standardized electroretinographic rod b-wave amplitudes with age-matched normal controls. PURPOSE: To establish the normal range of values for rod-isolated b-wave amplitudes in achromatopsia and cone dystrophies. This study demonstrates that YWHAH variants can have a substantial effect on 14-3-3eta function and that 14-3-3eta could be a critical factor in the survival of outer hair cells. In vitro, variants of YWHAH induce mild mitochondrial fragmentation and severe susceptibility to apoptosis, in agreement with a reduced capacity of mutated 14-3-3eta to bind the pro-apoptotic Bad protein. Among them, two were predicted to be damaging in families with syndromic deafness. Screening of YWHAH, the gene encoding the 14-3-3eta isoform, in non-syndromic and syndromic deafness, revealed seven non-synonymous variants never reported before. We show that 14-3-3eta is highly expressed in the outer and inner hair cells, spiral ganglion neurons of cochlea and retinal ganglion cells. Here we show that 14-3-3eta-deficient mice displayed auditory impairment accompanied by cochlear hair cells' degeneration. 14-3-3 proteins are the most abundant protein in the brain and are abundantly found in the cerebrospinal fluid in neurodegenerative diseases, suggesting a critical role in neuron physiology and death. In vertebrates, 14-3-3 proteins form a family of seven highly conserved isoforms with chaperone activity, which bind phosphorylated substrates mostly involved in regulatory and checkpoint pathways. , Células Fotorreceptoras de Vertebrados/fisiologia CONCLUSION: We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A p.Arg102Gln) was identified. Full-field electroretinography recordings showed extinguished rod and cone responses. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Funduscopy revealed marked pigmentary changes (i.e. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. RESULTS: The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. Targeted next-generation sequencing of a retinal disease gene panel was performed. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. METHODS: This report is an observational case report. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. PURPOSE: Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration.
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