This study systematically characterized for the first time the subgroup of LHON with childhood onset. The peculiar clinical and anatomic features of childhood LHON offer insights for the understanding of LHON's pathophysiology as well as a basis for the differential diagnosis of visual loss in childhood.

OCT can identify different patterns of RNFL involvement specific to different classic VF defects in eyes with NAION. Our results corroborate previous histologic findings in optic nerves affected with NAION.

The results, revealing that the ONH size is larger in LHON carriers than in LHON-affected, suggest a protective role for this anatomic trait. Such a hypothesis is reinforced by the observation that, among the LHON-affected, larger discs correlated with visual recovery and better visual outcome. The findings may be relevant for prognosis and provide a mechanism for identifying nuclear-modifying genes implicated in the variability of penetrance in LHON.

Purpose: To assess the results of botulinum toxin treatment in 60 consecutive children with essential infantile esotropia. Methods: Bilateral simultaneous injection of botulinum toxin into the medial rectus muscle was performed in 60 patients under direct visualization with an "open sky" technique. Fluothane/sevoflurane insufflation anesthesia was used. Each patient underwent a single bilateral botulinum toxin injection. Patient age at the time of injection ranged from 5-8 months. Results: Mean patient age at the time of treatment for the 88% of patients who gained a good alignment (within + 10 prism diopters [Δ] of residual esotropia) was 6.5 months, while mean patient age at time of injection for the 12% of patients who were undercorrected or the deviation relapsed was 7.8 months. Follow-up averaged 5.2 years (range: 2-9 years, SD 2). No variation of the angle of strabismus was observed after 6 months from injection. In some patients with hyperopic refraction, plus lens corrections were prescribed during follow-up to stabilize the alignment. Conclusion: Botulinum toxin can be effective in essential infantile esotropia when children are treated by age 7 months. Journal of Pediatric Ophthalmology and Strabismus 2000;37:328-332.

The evidence of retinal vasculitis and the histologic findings of facial changes observed in this PRS case could support the pathogenetic model of a chronic inflammatory process as a plausible explanation for progressive facial hemiatrophy.