Two brothers, aged 60 and 62, reported vision loss at the age of 19 and 20, with visual recovery following neurosurgical intervention.
What is opto-chiasmatic arachnoiditis? What is the incidence of spontaneous recovery in LHON? What is the relationship with meningeal surgery?
A 26-year-old man was referred for a neuro-ophthalmological evaluation following the finding of painless acute visual loss and optic disc edema in his right eye.
A previous examination four months from onset of right eye visual loss reported a BCVA 0.05 OD and 0.63 OS, color vision defect and central scotoma at VF in OD. The optic disc was described as edematous with telangiectasias OD, and normal OS; whereas, OCT analysis reported RNFL thickening OD. (Figure 1) IV steroid therapy for 5 days was initiated about 6mos. after onset for the presumed diagnosis of optic neuritis. The patient self-administered idebenone 45mg twice. At the one-month follow-up, a slight improvement was noted in visual acuity and visual field.(Figure1). During hospitalization, genetic analysis identified the homoplasmic m.11778G>A mutation in ND4, leading to diagnosis of LHON and an increase in idebenone dosing to 900 mg/day.
A 16-year-old boy, belonging to an Italian family affected by LHON, complained of subacute, painless visual loss in his right eye (OD).
When can visual recovery be expected in LHON? Does treatment change the progression of the disease?
A 3-year-old girl develops sub-acute vision loss and strabismus. She tested positive for the 3460ND! LHON mutation and received treatment with idebenone and occlusion therapy.
What is the effect of idebenone in children with LHON? Is strabismus a negative prognostic factor in these cases? Is it appropriate to treat strabismus?
A 70-year-old woman with a diagnosis of glaucoma reports a sudden visual decline despite controlled intraocular pressure. The medical history reveals the presence of a distant relative affected by LHON.
