Abstract
Purpose :
Leber hereditary optic neuropathy (LHON) is a rare disease leading to subacute painless bilateral visual loss, associated until recently with mutations in mitochondrial DNA. Pathogenic variants in the nuclear encoded gene DNAJC30 have been shown to cause a new form of the disease; an autosomal recessive LHON (arLHON). The study aimed to describe detailed ocular findings in a cohort of 15 homozygous individuals carrying a known DNAJC30 mutation c.152A>G p.(Tyr51Cys).
Methods :
Study participants underwent complex ocular examination which included Snellen best-corrected visual acuity (BCVA) extrapolated to decimal values, static perimetry, spectral-domain optical coherence tomography, and retinal nerve fibre layer measurements.
Results :
Out of 15 individuals(13 white Czechs, 2 white Ukrainians) 14 were males. Thirteen manifested arLHON at a mean age of 25.9 ± 6.5 years (range 10.5–44.7), while two subjects, aged 17 and 37 remain unaffected. The mean follow-up after onset was 38.8 months (range 2–105). Five patients experienced sequential eye symptoms, with an interval ranging from 1.5-8 months while 8 reported simultaneous bilateral involvement. One patient was diagnosed with multiple sclerosis 4 years before arLHON onset which caused a diagnostic delay as retrobulbar neuritis was considered more likely. Seven individuals have been treated with idebenone. Although BCVA improved to the normal value (BCVA 1.0 in at least one eye) in 4 cases of whom 3 were treated, significant visual field defects and colour vision impairment persisted.
Conclusions :
Our study further documents the importance of arLHON in Central and Eastern European populations and the need for establishing an early diagnosis. Idebenone therapy seems to have a positive effect on the visual outcomes of patients with arLHON.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.