Prognostic factors for conversion to generalization in ocular myasthenia gravis

Patients with ocular myasthenia gravis (OMG) are frequently treated to prevent the development of generalized myasthenia gravis (GMG). This retrospective cohort study aimed to assess prognostic factors associated with conversion to GMG.We analyzed the time from the onset of OMG symptoms to GMG in relation to demographic variables, clinical findings, initial investigation results, and treatment regimens using Kaplan–Meier survival curves and multivariate Cox proportional regression analysis.Of 115 patients diagnosed with OMG (median follow-up time, 2.9 years), 28 (30.4%) developed GMG. The 2-year probability of GMG conversion was 23.7%. Patients with thymic abnormalities and a positive response to repetitive facial nerve stimulation had a significantly higher risk than those with negative results (hazard ratios [HR] 4.28, P < .001 and HR 3.84, P = .04, respectively). Treatment with immunosuppressants was found to be a preventive factor for secondary generalization (HR 0.36, P = .02).Patients with OMG had a low risk of developing GMG. Immunosuppressive treatments may mitigate disease progression. Chest imaging and repetitive nerve stimulation should be routinely performed to assess the risk of generalization.     

The epidemiology and mutation types of Leber’s hereditary optic neuropathy in Thailand

PurposeLeber’s hereditary optic neuropathy (LHON), the most common mitochondrial optic neuropathy, causes visual loss, especially in young adults. Due to the absence of epidemiological data in Southeast Asia, we aimed to determine Thai LHON patients’ characteristics (demographic data, mutation types, and prognoses) as the first study in this region.MethodsThis retrospective chart review enrolled all Thai LHON patients confirmed by three mitochondrial DNA mutations (G11778A, T14484C, and G3460A) between January 1997 and December 2016. Patients with more than one year of follow-up were included in a visual progression analysis. The Mann–Whitney U-test was applied to compare groups, and prognosis-associated factors were analysed with the generalized estimating equation.ResultsIn all, 229 patients were enrolled, with only nineteen females. Most mutations were of the G11778A type (91%), with T14484C accounting for the remainder. The age at onset of G11778A (21.9 years; interquartile range [IQR] 14.9, 33.5) was younger than that of T14484C (33.0 years; IQR 19.4, 37.5). Of 45 patients, the T14484C group demonstrated good vision recovery, whereas the G11778A group did not improve (difference in logMAR −0.7 and IQR −1.5, −0.2 versus logMAR 0.0 and IQR −0.3, 0.2, respectively; P value .001). The G11778A mutation, male, and older age were related to poor prognoses.ConclusionsThe leading mutation in Thai LHON patients is the G11778A missense, followed by T14484C, while G3460A was not detected. The vast majority of patients were young adult males. The G11778A mutation, older age, and male gender are associated with poor vision outcomes.

Key message

• The G11778A missense mutation is the most common among Thai LHON patients, followed by T14484C, while G3460A was not found. The G11778A mutation, older age, and male gender are associated with poor vision outcomes.