Abstract
Purpose :
Leber Optic Neuropathy (LHON) with onset in pediatric ages is unusual and its mechanism is not very clear. We performed a retrospective, observational clinical study to learn about the clinical and genetic characteristics of the pediatric population who develop LHON.
Methods :
Fourteen patients under 12 years of age with a clinical and genetic diagnosis of LHON underwent a descriptive data analysis study that included average age at presentation, mutation and haplotype, sex, number of days from onset of symptoms to consultation, average number of days of involvement of the contralateral eye and final average VA.
Results :
14 patients who came from 14 families were studied. 11 patients were male and 3 female, with an average age of onset of 6.9 years. The most frequent mutation was m.11778G>A (71.4%). Genetic analysis confirmed a novel mutation located at m.14468T>C responsible for LHON in a male patient. All patients had Amerindian haplotypes, being more than 90% haplogroups B2i2 and C1b. Five patients started the disease before the age of 5 years. In 3 patients (21%), there was asymmetrical involvement with differences in visual acuity between eyes greater than 5 lines, and in two of them vision was greater than 20/25 in one eye and vision less than 20/200 in the contralateral eye.
Conclusions :
The present study reaffirms the majority commitment of the male sex, genetically Amerindian haplotypes are found. In 21% of cases there was an asymmetric or “unilateral” involvement. A new, previously undetected mutation for LHON was found, which expands the series of mutations in this rare disease.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.