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Zhike Zhang, Huijun Yuan, John Guy; Novel NDUFV1 mutations with optic nerve atrophy. Invest. Ophthalmol. Vis. Sci. 2018;59(9):4140.
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© ARVO (1962-2015); The Authors (2016-present)
NDUFV1 mutations related to deficiency of complex I of the mitochondrial respiratory chain, have reported in patients with encephalopathy, most Leigh syndrome or leukodystrophy. We reported a case with two novo NDUFV1 mutations showed optic nerve atrophy but no leukodystrophy.
Report a case that a 13-year-old girl had a chief complaint of decreasing vision in both eyes for 3 years. Her past medical history was pertinent for attention deficit disorder. She had one sister with no health problems. Her vision was not changed on the mitochondrial cocktail (coenzyme Q10, L-carnitine, α-lipoic acid and B complex). She had visual acuity, visual field, VEP, optic OCT and brain MRI. Using Agilent Clinical Research Exome kit to target exotic regions, these regions were sequenced simultaneously by massively parallel next generation sequencing (NGS) on an Illumina HiSeq sequencing system with 100bp paired-end reads. Bi-directional sequence was assembled, aligned to reference gene sequences based on human genome build GRCh37/UCSC hg 19, and analyzed using Xome Analyzer tool. Followed up for 3 months.
The patient’s visual acuity was 20/400 in each eye, visual fields showed superior and nasal and central defect at -22.64 db in the right eye and in the left eye a superior nasal frontotemporal at -8.2 db. Fundus exam showed temporal pallor to both optic nerves. MRI showed small optic nerves but no evidence of leukodystrophy. VEP showed low amplitude. DNA sequencing showed a mutation in NDUFV1 one of the nuclear DNA encoding subunits of complex I, c.53_54delTG: pVal18AlafsX20 in exon 1 and c.1162+4A>C: IVS8+4A>C in intron 8. Taking idebenone 125 mg twice a day for one month, the patient felt her vision improved, 20/300 on the right and 20/350 on the left.
This case broadens our understanding of genotype-phenotype correlations for NDUFV1 mutations and reveals a potential relationship between complex I deficiency and optic nerve atrophy.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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