Retinal Ganglion Cell Injury Precedes RNFL Loss In Acute Optic Neuritis

Studies in the experimental autoimmune encephalomyelitis (EAE) animal model of MS have shown that RGC injury is an early event in the neurodegeneration of EAE and occurs before transection of axons. Here we tested for RGC injury in patients with acute ON using pattern electroretinogram (PERG) and ganglion cell layer analysis (GCL)

Cavernous Sinus Syndrome: Where Do You Go From Here?

It is well recognized that squamous cell carcinoma of the skin can go on to perineural invasion of the surrounding tissue. However, this diagnosis can be quite challenging in the face as the carcinoma can spread along branches of the trigeminal nerve to invade the cavernous sinus

Retinal Ganglion Cell Injury Precedes RNFL Loss In Acute Optic Neuritis

Studies in the experimental autoimmune encephalomyelitis (EAE) animal model of MS have shown that RGC injury is an early event in the neurodegeneration of EAE and occurs before transection of axons. Here we tested for RGC injury in patients with acute ON using pattern electroretinogram (PERG) and ganglion cell layer analysis (GCL)

Growing Suspicion

loss in the right eye for 3 months. On presentation, vision was 4/200 in the right and 20/20 in the left with an afferent pupillary defect on the right. His visual field was full to confrontation but automated perimetry revealed a central scotoma. The remainder of the exam was normal with the exception of slight elevation of the optic nerve head along with mild perivascular sheathing. He received IV solumedrol for 3 days followed by an oral steroid taper. Fat saturated MRI did not show enhancement of the optic nerve nor any brain abnormalities or mass lesions. He had a normal lab workup including CBC, BMP, quantiferon gold, B12, RPR, and ACE and a normal CXR. On follow up one month later, he experienced no vision improvement. At this point, testing for Leber's hereditary optic neuropathy (LHON) was performed and was negative. He returned 6 months later with subjective worsening of vision in the right eye, however acuity was stable at 4/200. He was started on IVIg therapy and autoimmune and NMO antibodies were drawn. Antibody testing was negative and on follow up one month later, his acuity remained unchanged and his scotoma was larger and denser. He was again lost to follow up for 3 years until he began losing vision in the left eye. Exam revealed counting fingers vision in the right eye and 20/40 with a temporal visual field defect in the left eye. MRI showed an enhancing mass extending from the planum tuberculum and suprasellar area to the right temporal lobe and into both orbits. A procedure was performed

Where the Lung Meets the Eye

"The cavernous sinus is an important neurovascular crossing point. Careful examination of patients presenting with multiple cranial neuropathies may suggest a lesion of this region but the differential is wide and often difficult to confirm.1 Potential infectious and inflammatory etiologies as well as local malignant invasion should be addressed. However, metastases from distant sites are more rarely seen.

Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease

A 7-year-old girl presented with decreased vision in both eyes for 1 month. Examination showed visual acuity of 20/50 and 20/60, no afferent pupillary defect, cecocentral scotomas, and bilateral optic disc edema with extensive peripapillary and macular exudates. Magnetic resonance imaging showed multiple cortical and subcortical white matter lesions. Both the laboratory workup and the systemic examination were unrevealing. However, on follow-up, the patient showed episodic elevations of blood pressure as high as 240/160. Further workup revealed elevated urine catecholamines and a right supra-adrenal mass proven to be a pheochromocytoma by histopathologic analysis. The paroxysmal hypertension resolved, and the visual acuity, visual fields, fundus exam, and neuroimaging improved. The patient was lost to follow-up until age 18 when she developed shortness of breath and was found to have multiple pulmonary metastases identified as pheochromocytoma by biopsy. Genetic testing identified a 3p25-26 (c.482 G>A) VHL gene chromosomal mutation consistent with von Hippel–Lindau disease genotype. Multiple peripheral retinal vascular dilations and small retinal capillary hemangioblastomas were also found. This case highlights the importance of recognizing the lability of blood pressure often seen with pheochromocytomas, which may mask the underlying cause of hypertensive papillopathy and retinopathy, a diagnosis of low clinical suspicion in the pediatric population. The case also underscores the importance of thorough systemic workup, including genotyping to detect conditions where pheochromocytoma may be the presenting sign of the disease, such as multiple endocrine neoplasia 2A and 2B, von Hippel–Lindau disease, von Recklinghausen disease, tuberous sclerosis, and Sturge–Weber syndrome