Niphon Chirapapaisan

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy

We performed an observational prospective analysis to study the clinical characteristics as well as a molecular genetic analysis of 17 members of a Thai family who had visual loss and/or muscle weakness. Their blood mitochondrial DNA were examined for the presence of the G11778A Lebers hereditary optic neuropathy (LHON) mutation. Facioscapulohumeral muscular dystrophy (FSHD) DNA analysis was performed in four members who had visual loss. Of 17 family members, the eight members who had the 11778 LHON mutation were all from branch ‘a’. Three of these eight members had FSHD with a 17–27‐kb deletion of a tandem repeat in the 4q35 subtelomere, and two had been clinically diagnosed as FSHD. Four of six examined members in branch ‘b’ showed muscular dystrophy clinically diagnosed as FSHD. No correlation of blood DNA analysis between LHON and FSHD in affected members was found. We describe the first family with FSHD and G11778A LHON in which a mutation in mitochondrial DNA at nucleotide position 11778 of branch ‘a’ was found to be the origin of the mutation.

Isolated optic neuritis from an identified Gnathostoma spinigerum.

Purpose To describe a patient with isolated monocular optic neuritis caused by an identified Gnathostoma spinigerum infestation. Case report A 21-year-old man developed a swollen eyelid and painful monocular visual loss of his left eye which did not improve after treatment by intravenous steroid and albendazole. A remarkable eosinophilia in his peripheral blood count was demonstrated. The patient subsequently found a live parasite emerged from his lower eyelid and it was successfully removed by himself. Gross and histopathology examinations of the obtained parasite was undertaken. The parasite was identified as Gnathostoma spinigerum. His blood test for Gnathostoma antibody was positive. Discussion The etiology of isolated optic neuritis in this patient was Gnathostoma spinigerum which was confirmed by the histopathology of the obtained parasite and the positive serologic test. Conclusions We could identify the exact parasite that was proven to cause an isolated optic neuritis. The immediate removal of a causative parasite may not result in an improvement of the injured tissue but is beneficial in preventing further destruction as well as future complications. (Eur J Ophthalmol 2007; 17: 130–2)

Differences in clinical features between optic neuritis in neuromyelitis optica spectrum disorders and in multiple sclerosis

Background Optic neuritis (ON) is one of the common manifestations both in neuromyelitis-optica spectrum disorders (NMOSD) and in multiple sclerosis (MS). Objectives The objective of this paper is to compare clinical presentations, laboratories and imaging findings in ON associated with MS and NMOSD. Methods A retrospective chart review was performed in patients presenting with ON in 59 NMOSD patients with 72 eyes’ involvement and 163 ON attacks, and 20 MS patients with 23 eyes’ involvement and 36 ON attacks. Results ON-NMOSD patients had recurrent ON more often and tended to have simultaneous bilateral ON involvement at their first ON attack. Individuals with ON-NMOSD revealed worse visual acuity at first ON attacks and also had poorer long-term visual outcome than those with ON-MS, with nearly half of ON-NMOSD patients still having LogMAR visual acuity ≥1 at their last follow-up (p = 0.035). Significant thinner average retinal nerve fiber layer thickness was found in the ON-NMOSD group. We found no significant differences in segmentation location of the optic nerve lesions and the length of involvement between the two groups. Conclusions It was difficult to completely differentiate ON-NMOSD from ON-MS. ON-NMOSD patients, however, tended to have simultaneous bilateral ON involvement and poorer long-term visual outcome than individuals with ON-MS.

Diurnal changes in retinal nerve fiber layer thickness with obstructive sleep apnea/hypopnea syndrome

AIM To compare the retinal nerve fiber layer (RNFL) thickness in the morning and evening in Thai patients with varying degrees of obstructive sleep apnea/hypopnea syndrome (OSAHS). METHODS In this cross-sectional study, potential OSAHS patients at Siriraj Hospital underwent polysomnography to determine the severity of OSAHS and an eye examination (including best corrected visual acuity, slit-lamp examination, and Goldmann applanation tonometry). RNFL thickness was recorded once in the morning and once in the evening, using spectral domain optical coherence tomography. Thickness was expressed as an average and given for each quadrant. Patients with ocular or systemic diseases that might affect RNFL thickness were excluded. RESULTS Forty-one eyes of 41 patients were classified into 4 OSAHS groups. The average and mean RNFL thickness in most of the four quadrants of the severe OSAHS group trended toward being less than those in the comparable quadrants of the other groups in both the morning and evening. In the moderate OSAHS group, the average RNFL thickness and temporal and superior quadrant thickness in the morning were significantly higher than in the evening (P=0.01, P=0.01, and P=0.03, respectively). In the severe OSAHS group, the inferior quadrant thickness in the morning was significantly higher than in the evening (P=0.03). CONCLUSION The RNFL thickness in the morning was higher than in the evening in moderate OSAHS.