Journal of Neuro-Ophthalmology最新文献

Background: Spinocerebellar ataxia type 27 B (SCA27B) caused by GAA trinucleotide repeats in the fibroblast growth factor 14 gene is emerging as a common cause of late-onset ataxia. Oscillopsia due to downbeat nystagmus (DBN) and diplopia are common symptoms, yet the causes of diplopia and strabismus patterns are poorly defined.

Methods: Retrospective chart review of 18 patients diagnosed with SCA27B over the past year.

Results: Ten of 18 patients had episodic or persistent oscillopsia or diplopia at disease onset, neurologically isolated in 4. Seventeen had detectable DBN, although it was often delayed in onset and was clinically obvious in only 5. Diplopia was present in 14 patients: vertical due to skew deviation (static and or alternating on lateral gaze) (n = 8) and/or horizontal due to vergence dysfunction (n = 11). Symptomatic vergence dysfunction included convergence insufficiency (CI) (n = 4) and divergence insufficiency (n = 5). Thirteen of 16 patients experienced improvement in oscillopsia or imbalance on 4-aminopyridine (4-AP).

Conclusions: Strabismus patterns causing diplopia in patients with SCA27B are, not unexpectedly, largely attributable to cerebellar dysfunction and are not unique to SCA27B. The exceptions to cerebellar localization were CI, sixth nerve palsy, and slow saccades. Careful assessment for DBN in patients presenting with episodic or persistent diplopia from skew deviation or vergence disorders is important, as this may be key to confirming a cerebellar localization, subtle on examination, and guide toward genetic testing and 4-AP treatment.

Background: To investigate the clinical course of nonarteritic anterior ischemic optic neuropathy (NAION), in particular the presence of individual prognostic markers and the occurrence of a 2-stage progression of the disease.

Methods: In this retrospective study, 116 eyes of 100 patients with NAION were included. The selection was made in reverse consecutive order, starting with patients who presented to the University Eye Clinic, Tuebingen, Germany in December 2022.

Results: Sixty-three percent of the patients were men, median age was 61.5 years. Of all patients, obstructive sleep apnea was found in 73.5%, arterial hypertension (aHT) in 69.9%. Second eye involvement was observed in 15% of the patients. The median follow-up was 56 days. Median visual acuity (VA, decimal) of all eyes examined was 0.63 in the first test and 0.5 in the final test, a clinically relevant VA decrease of at least 2 lines occurred in 27.5%. A worsening of visual field (VF) defects happened in 42.5%. Worst VA and VF prognosis were in relation to an initial circular swelling of the optic disc. Best final VA occurred with initial superior swelling, best final VF findings with initial inferior swelling. Considerable increase in optic disc swelling during the observation period occurred in 16.4% of the eyes (n = 19) at a median of 24 days after initial presentation.

Conclusions: The configuration of the initial optic disc swelling is a prognostic marker, with circular swelling having the worst prognosis for VA and VF. In total, 16.4% of the affected eyes, particularly in men with initially good visual acuity, showed a 2-stage progression of optic disc swelling with poor visual prognosis. Second eye involvement occurred in 15% of our cohort.

Background: Idiopathic cases of recurrent optic disc edema, which we termed idiopathic recurrent papillitis (IRP), share similar features with idiopathic recurrent neuroretinitis (IRN). This raises the possibility that they may be in the same spectrum of disease, in which long-term immunotherapies have been suggested to reduce relapses. We sought to characterize IRN and IRP, including the treatment effects of immunotherapy.

Methods: This retrospective, multicenter cohort study included patients with either IRN or papillitis (all without retrobulbar optic nerve enhancement on MRI during the acute attack) who were diagnosed at Mayo Clinic or University of Minnesota between January 2015 and October 2023. Demographics, age at first attack, and annualized relapse rates (ARRs) on and off long-term immunotherapy for patients on immunotherapy >6 months were recorded.

Results: Among 30 patients, 17 (56.7%) patients had a neuroretinitis attack at least once, out of whom 10 (58.8%) patients had both neuroretinitis and papillitis attacks. Thirteen (43.3%) patients had only papillitis attacks. The median age of first attack was 34 years (interquartile range [IQR] 28-42) in neuroretinitis and 38 years (IQR 28-49) in papillitis (P = 0.91). The median number of attacks for all patients was 3.5 (IQR 3-5). Out of 15 patients who were on immunotherapy for 6 months or longer, 10 (66.7%) patients had at least 1 relapse with a median ARR on therapy of 0.28 attacks/year (IQR 0-0.54), which was not significantly different from off therapy (P = 0.74). Among immunotherapies, mycophenolate mofetil had the lowest median ARR (0 attacks/year, IQR 0-0.29), followed by intravenous immunoglobulin (0.49 attacks/year, IQR 0.25-0.74), methotrexate (0.49 attacks/year, IQR 0.29-0.87), rituximab/ocrelizumab (0.68 attacks/year, IQR 0.34-1.47), and azathioprine (0.75 attacks/year, IQR 0-2.17).

Conclusions: There is significant overlap between IRN and IRP, suggesting they are in the same spectrum of disease. Most long-term immunotherapies other than mycophenolate did not seem to be effective in reducing the number of relapses, although further prospective studies are required to assess this.