Low Vision Aids in Pediatric Leber Hereditary Optic Neuropathy: Experience of a Tertiary Center

Authors

  • Nuno Cruz Ophthalmology Department, Unidade Local de Saúde de Coimbra (ULS Coimbra), Coimbra, Portugal https://orcid.org/0000-0002-8230-1805
  • Celso Costa Ophthalmology Department, Unidade Local de Saúde de Coimbra (ULS Coimbra), Coimbra, Portugal
  • Liliana Cortez Ophthalmology Department, Unidade Local de Saúde de Coimbra (ULS Coimbra), Coimbra, Portugal
  • Sara Ferreira Metabolic Diseases Department, Child Development Center, Pediatric Hospital, Unidade Local de Saúde de Coimbra (ULS Coimbra), Coimbra, Portugal
  • Joaquim Murta Ophthalmology Department, Unidade Local de Saúde de Coimbra (ULS Coimbra), Coimbra, Portugal; Clinical Academic Center of Coimbra (CAAC), Coimbra, Portugal
  • Catarina Paiva Ophthalmology Department, Unidade Local de Saúde de Coimbra (ULS Coimbra), Coimbra, Portugal; Clinical Academic Center of Coimbra (CAAC), Coimbra, Portugal

DOI:

https://doi.org/10.48560/rspo.38329

Keywords:

Child, Optic Atrophy, Hereditary, Leber/therapy, Optical Devices, Visual Acuity

Abstract

INTRODUCTION: Leber hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disorder. It typically affects young males, but its onset in childhood is rare. Treatment is limited and include the use of idebenone. Furthermore, to improve visual performance and academic and social adaptation, low vision aids are crucial. We report our experience with pediatric LHON and the low vision aids we recommend for these patients.
METHODS: Retrospective study of a Portuguese pediatric LHON cohort with confirmed pathogenic mitochondrial mutation, followed in our Pediatric Ophthalmology and Low Vision Center.
RESULTS: We enrolled 3 patients, all male, of 8, 14 and 15 years old. Vision loss and diagnosis occurred at 5, 10 and 14 years old, respectively. The variants m.1309AT>C (patient 1, Leber plus) and m.3460G>A (patients 2 and 3, Leber) were present. Best-corrected visual acuity (BCVA) was: 20/20 in the right eye (OD), 20/30 in the left eye (OS), with subjective ecocentral and peripheral visual field loss (patient 1), 20/100 OD, 20/200 OS, with ecocentral and diffuse defects on perimetry (patient 2) and 20/400 in both eyes (OU) with severe visual field constriction and central islands of vision sparing (patient 3). Neuroimaging, multimodal ophthalmic imaging and blood analysis were performed before definitive diagnosis. Since diagnosis, all the children started idebenone and were evaluated by the low vision multidisciplinary team (ophthalmologists, pediatricians, physiatrists, geneticists, psychologists, orthoptic technicians, social workers and special education teachers) along with the low vision team to promote concomitant visual rehabilitation. Patient 1 only requires individual school support. Patient 2 uses a monocular, focusable, hand-held Keplerian telescope for far with improvement of the BCVA to 20/20 OS and video magnifier systems with good adaptation and reading speed improvement. Patient 3 also benefits from video magnifiers and a hand-held magnifier for near, with improved visual tasks.
CONCLUSION: Along with medical treatment and follow-up, the approach to pediatric LHON must include low vision rehabilitation. As shown here, the availability of a wide range of aids for near and far vision greatly improves visual performance and allows for greater participation in school and social activities, facilitating the healthy development of these children.

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Published

2025-11-29

How to Cite

Cruz, N., Costa, C., Cortez, L., Ferreira, S., Murta, J., & Paiva, C. (2025). Low Vision Aids in Pediatric Leber Hereditary Optic Neuropathy: Experience of a Tertiary Center. Revista Sociedade Portuguesa De Oftalmologia. https://doi.org/10.48560/rspo.38329

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