Potpourri of retinopathies in rare eye disease – A case series

This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age. In one patient of KSS, the mitochondrial retinopathy was seen in an asymmetric pattern, and the second patient presented with KSS after being mis-diagnosed as myasthenia gravis elsewhere. A case of Senior Loken syndrome in pediatric age is described in this series with varied ophthalmic manifestations ranging from retinitis pigmentosa to orbital abscess. This series also enlightens features of Hallervorden Spatz syndrome presenting with bull’s eye maculopathy and a case of spino-cerebellar ataxia type 7 presenting with pigmentary retinopathy.

Idiopathic pediatric retinal artery occlusion.

We report a case of branch retinal artery occlusion (BRAO) in a healthy young girl. An eight-year-old girl presented with sudden loss of vision in her left eye. She had a pale retina with macular edema consistent with extensive BRAO. A thorough workup was performed to determine any etiologic factor. All test results were within normal limits. Her visual acuity improved from finger counting to 20/40 over two weeks, on immediate treatment with intravenous steroids (methyl prednisolone). This case suggests that BRAO can occur in healthy children without any detectable systemic or ocular disorders and a dramatic improvement may be achieved with prompt treatment with intravenous steroids.

Optic nerve sheath decompression for visual loss in intracranial hypertension: Report from a tertiary care center in South India.

Aim: Severe visual loss is the only serious complication of intracranial hypertension secondary to idiopathic intracranial hypertension (IIH) and some cases of cerebral venous thrombosis (CVT). Optic nerve sheath decompression (ONSD) has been shown to improve or stabilize visual function in patients with IIH, while its role in CVT is yet to be established. We report our experience with optic nerve sheath decompression for visual loss in IIH and CVT. Materials and Methods: In this prospective noncomparative, interventional study, 41 eyes of 21 patients with IIH and CVT and visual loss underwent ONSD. The main outcome measures included best-corrected visual acuity (BCVA), visual fields, pupillary light reflex, optic nerve sheath diameter on B-scan and resolution of papilledema which were evaluated preoperatively and at follow-up at four days, two weeks, one month, three months and final follow-up. In 7/41 eyes with absent light perception preoperatively, the functional outcome was analyzed separately. Results: Following ONSD BCVA and visual fields stabilized or improved in 32/34 (94%) eyes. Statistically significant improvement in BCVA, visual fields and pupillary light reflex occurred over the three month follow-up period. Surgical success was indicated by reduction in optic nerve diameter and papilledema resolution occurred in all patients. The outcome in the IIH and CVT groups was comparable. Four eyes with absent light perception showed marginal improvement in visual acuity. Four eyes had transient benign complications. Conclusion: Optic nerve sheath decompression is an effective and safe procedure to improve or stabilize vision in patients with visual loss caused by IIH and CVT.