A 50-year-old woman was incidentally diagnosed to have unilateral disc oedema during comprehensive ophthalmological evaluation. She had a prior history of ulcerative colitis. She had normal visual function and was initially diagnosed to have incipient non-arteritic anterior ischaemic optic neuropahty. Risk factor evaluation revealed hyperhomocysteinaemia. She was asked to come for a follow-up in 2 months. However, she was lost to follow-up and returned to the clinic for the evaluation for headaches, 23 months later. Her ocular examination was stable and she had persistent unilateral disc oedema unchanged from the prior visit. Repeat MRI brain and MR venogram brain with contrast-established diagnosis of cerebral sinus venous thrombosis (CSVT). She denied any neurological symptoms. Later on, she was diagnosed to have hyperhomocysteinaemia with methyl tetrahydrofolate reductase gene mutation. This case highlights the importance of recognising although rare, unilateral disc oedema secondary to elevated intracranial pressure from CSVT.

Purpose: To report clinical profile, diagnostic challenges, and outcomes in cases of subacute/chronic cerebral sinus venous thrombosis (CSVT) presenting to neuro-ophthalmologists/neurologists. Methods: This was a multicentric, retrospective, observational study. Records of patients with neuroimaging proven subacute/chronic CSVT seen the from January 1, 2016 to March 31, 2020 were analyzed. Data collected included duration of symptoms, diagnosing physician, ophthalmological vs. focal/generalized neurological symptoms, optic disc examination, perimetry, and neuroimaging findings. Statistical analysis was performed using STATA software. Results: Forty-three patients with subacute (30)/chronic (13) CSVT were identified (32 males, 11 females). Median age was 37 (IQR 27–47) years. The presenting complaints were blurred vision 34 (79%), headaches in 25 (58%), vomiting 12 (28%), and diplopia 11 (26%). Eleven patients had associated sixth cranial nerve palsy. All but two patients had either disc edema/optic atrophy; four had unilateral disc edema at presentation. Ophthalmologists and neurologists diagnosed/suspected CSVT correctly in 13/29 (45%) and 11/14 (78.5%) patients, respectively. Most common initial alternate diagnosis was idiopathic intracranial hypertension in 12 (28%). Female gender, age ≤36, unilateral papilledema, not obtaining venogram at initial workup increased chances of initial alternate diagnosis. Median follow-up duration was 21 days. Average visual function remained stable in majority of patients at last follow-up. In total, 47.6% of patients had best-corrected visual acuity ≥20/30 at the final follow-up. Conclusion: In our series, subacute or chronic CSVT presented presented primarily with symptoms of intracranial hypertension. Unilateral papilledema, middle-aged patients, female gender, lack of focal/generalized neurological symptoms created diagnostic dilemma. Visual function remained stable in majority of patients.

Purpose: To identify and describe the clinical profile at presentation in patients diagnosed as having Leber's hereditary optic neuropathy with primary and secondary mutations and correlate with treatment. Methods: A review of electronic medical records from January 2016 to December 2020 for proven cases of Leber's hereditary optic neuropathy was conducted. A total of 157 patients with clinically suspected Leber's hereditary optic neuropathy (143 males and 14 females) underwent genetic testing and 55 were found to have a mutation for Leber's hereditary optic neuropathy. Data of 55 consecutive patients were retrieved and analyzed for their clinical profile, investigations, mutations identified, treatment, and outcome. Results: All 55 patients were male, and the mean age was 23.80 ± 9.90 years (range: 9 to 53 years). The median duration of symptoms before the first physician examination was 6 months. The mean duration between the first hospital visit and genetically proven diagnosis of Leber's hereditary optic neuropathy was 9.03 ± 19.61 months (median: 2 months). More than half of the patients (n = 32; 58.2%) presented with severe to profound vision impairment in the better eye and 72.7% (n = 40) in the worse eye. Bilateral temporal disc pallor was more frequent in 38.2% (n = 21) and 36.4% (n = 20) had bilateral optic atrophy. Primary single mutations were detected in 61.81% (n = 34) and secondary mutations were detected in 38.2% (n = 21). The most common mutation was G11778A. One novel secondary mutation (A13615C) was identified in the cohort. Idebenone was used for treatment in 15 patients, and half of them (n = 8) showed an improvement in vision at 2 to 7 months of follow-up. Conclusions: The current cohort is the largest study to date in an Indian population that has analyzed the clinical presentations and mutations of Leber's hereditary optic neuropathy. G11778A was the most common primary mutation and several secondary mutations were identified. A delay in referral, inadequate compliance, and cost of care contributed to the outcomes. [ J Pediatr Ophthalmol Strabismus . 2022;59(5):344–349.]