<i><scp>OPA</scp>1</i> analysis in an international series of probands with bilateral optic atrophy

Lišková, Petra; Tesařová, Markéta; Ďuďáková, Ľubica; Švecová, Š; Kolářová, Hana; Honzík, Tomáš; Seto, Sharon; Votruba, Marcela

doi:10.1111/aos.13285

Cited by 6 publications

(2 citation statements)

References 58 publications

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“…The present study has some limitations: first of all, we used a small simple size and there was disproportionate distribution in DOA groups, but the haploinsufficiency is the most common disease mechanism (Liskova et al 2017) and our sample confirms it. However, DOA is a rare disease, and the OPA1 missense mutations are less frequently found.…”

Section: Discussionmentioning

confidence: 74%

Retinal dysfunction characterizes subtypes of dominant optic atrophy

Cascavilla

Parisi

Triolo

et al. 2017

Acta Ophthalmologica

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Section: Discussionmentioning

confidence: 74%

Retinal dysfunction characterizes subtypes of dominant optic atrophy

Cascavilla

Parisi

Triolo

et al. 2017

Acta Ophthalmologica

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“…This non-conservative change can lead to destabilization of the protein structure resulting in decreased protein function. In fact, numerous articles have reported that the change is associated with optic atrophy 1 [24,25]. In addition, computational prediction tools unanimously predict a deleterious effect on the gene, and its frequency in gnomAD population databases is extremely low.…”

Section: Oft-00786mentioning

confidence: 99%

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

Arruti

Rodríguez-Solana

Nieves-Moreno

et al. 2023

CIMB

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A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families. Eleven children with a confirmed OPA1 mutation were identified during the study period. The main initial complaint was reduced visual acuity (VA), present in eight patients of the cohort. Eight of eleven patients had a positive family history of optic atrophy. The mean visual acuity at the start of the study was 0.40 and 0.44 LogMAR in the right and left eye, respectively. At the end of the study, the mean visual acuity was unchanged. Optical coherence tomography during the first visit showed a mean retinal nerve fiber layer thickness of 81.6 microns and 80.5 microns in the right and left eye, respectively; a mean ganglion cell layer of 52.5 and 52.4 microns, respectively, and a mean central macular thickness of 229.5 and 233.5 microns, respectively. The most common visual field defect was a centrocecal scotoma, and nine out of eleven patients showed bilateral temporal disc pallor at baseline. Sequencing of OPA1 showed seven different mutations in the eleven patients, one of which, NM_130837.3: c.1406_1407del (p.Thr469LysfsTer16), has not been previously reported. Early diagnosis of dominant optic atrophy is crucial, both for avoiding unnecessary consultations and/or treatments and for appropriate genetic counseling.

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