Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up
| Autor: | Niklas Darin, Kalliopi Sofou, Antovan K. Seyedi Honarvar, Susann Andersson, Marita Andersson Grönlund, Rebecka Åkebrand, Mar Tulinius |
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| Rok vydání: | 2015 |
| Předmět: |
Mitochondrial encephalomyopathy
Male medicine.medical_specialty Pediatrics Visual acuity genetic structures Adolescent Eye Diseases Eye Movements Visual Acuity Refraction Ocular Ophthalmoscopy 03 medical and health sciences 0302 clinical medicine Atrophy medicine Electroretinography Humans Strabismus Child medicine.diagnostic_test business.industry Incidence (epidemiology) Vision Tests Infant General Medicine medicine.disease Surgery Ophthalmology Exact test Child Preschool Cohort 030221 ophthalmology & optometry Female medicine.symptom Leigh Disease business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Acta ophthalmologica. 94(6) |
| ISSN: | 1755-3768 |
| Popis: | Purpose To describe ophthalmological characteristics in children with Leigh syndrome (LS), an inherited, progressive, mitochondrial encephalomyopathy, at diagnosis and over time, and relate the results to causative genetic mutations. Methods Forty-four children with LS (19 females), with a median age of 2.4 years (range: 0.6–14.2 years) at diagnosis, were studied at the Queen Silvia Children's Hospital, Gothenburg, Sweden. Twenty-eight children had known genetic defects. The children underwent an ophthalmological examination, including visual acuity (VA), eye motility, refraction, slit lamp examination, ophthalmoscopy and a full-field electroretinogram (ff-ERG). Seventeen children were available for follow-up over a mean time of 5.4 years (range: 0.3–14.8 years). The results of these children were compared with an age- and sex-matched reference group of healthy children (n = 119). Results Altogether 36/44 of the children (82%) had ophthalmological abnormalities. The most common findings were refractive errors (n = 16/25), low VA (n = 9/36), strabismus (n = 8/42), reduced eye motility (n = 8/40), optic atrophy (n = 7/41), retinal pigmentation (n = 6/40) and nystagmus (n = 6/42). Several ophthalmological manifestations appeared over time. In 5/22 children, ff-ERG showed retinal dystrophy. No significant correlation between phenotype and genotype was found. The children with LS had significantly lower VA (p |
| Databáze: | OpenAIRE |
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