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AIMTo study the usefulness of orbital ultrasonography in the diagnosis of papilledema.METHODSFifty patients who were referred to the neurophthalmology clinic and clinically suspected to have papilledema were selected. Thorough, clinical examination with slitlamp biomicroscopy and visual acuity assessment was done. These patients underwent ultrasonography to demonstrate the crescent sign. The patients were further evaluated with the neurologist and magnetic resonance imaging (MRI) thus confirming the diagnosis of papilledema. The results of our ultrasonographic evaluation were correlated with final diagnosis after thorough clinical evaluation, imaging and the neurologist’s opinion.RESULTSOut of 50 patients diagnosed having papilledema on MRI, 46 (92%) showed crescent sign on B scan ultrasonography. Headache was most common presenting complaint in 47 (94%) and idiopathic intracranial hypertension was most common underlying cause of papilledema in 30 (60%) cases.CONCLUSION“Crescent sign” seen on ultrasonography is a sensitive tool for diagnosis of papilledema. It is cost effective, less cumbersome and effective tool to differentiate between papilledema and pseudo papilledema before subjecting the patients to costly investigations like MRI. A positive crescent sign should always be followed by MRI to find out the cause of papilledema.

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.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression. Magnetic resonance imaging of the brain and orbit showed brainstem hypoplasia with absence of facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla, which are the radiological findings seen in this disorder.