The Peripapillary Retina - A Common Juncture in Stargardt Disease and Idiopathic Intracranial Hypertension.

PURPOSE: To present the multimodal imaging and functional exam findings in a case of combined Stargardt disease and idiopathic intracranial hypertension. METHODS: The patient was evaluated with multimodal imaging including color fundus photography, short wavelength autofluorescence, spectral domain optical coherence tomography as well as functional testing such as Humphrey visual fields and full-field electroretinogram. RESULTS: A 35-year-old woman was referred for evaluation of bilateral transient visual obscurations over the course of 2 months. Optic disc edema was observed in both eyes as well as a bulls-eye maculopathy with pisciform flecks. Magnetic resonance imaging and subsequent lumbar puncture confirmed a diagnosis of idiopathic intracranial hypertension. Fundus autofluorescence demonstrated hyperautofluorescent flecks surrounding both the macula and the disc. Genetic testing and full-field electroretinogram confirmed a diagnosis of Stargardt disease. Notably, the peripapillary retina was not spared as is frequently seen in Stargardt disease, possibly due to the impact of disc edema in the area. The patient was treated with increasing doses of acetazolamide and familial testing for Stargardt disease was recommended. CONCLUSION: Both Stargardt disease and idiopathic intracranial hypertension are separately rare diseases with common anatomic intersection at the peripapillary retina. Stargardt disease typically spares the peripapillary retina; however, in the present case shows some evidence of peripapillary involvement. This finding suggests some relationship between disc edema due to idiopathic intracranial hypertension and the natural history of Stargardt disease.

Elevated lumbar puncture opening pressure in aseptic meningitis.

OBJECTIVES: Elevated lumbar puncture opening pressure (ELPOP) is a reported but understudied phenomenon in aseptic meningitis. This study aimed to characterize the features of ELPOP in aseptic meningitis patients. METHODS: An observational, retrospective, single-center study was conducted. We included all adult patients diagnosed with aseptic meningitis or meningoencephalitis from October 2015 to May 2017, for whom lumbar puncture opening pressure (LP OP) was measured. OP > 25 cm H2O was documented as ELPOP. Patients' demographic characteristics, clinical data, laboratory and cerebrospinal fluid (CSF) results, as well as optic disc appearance were analyzed. RESULTS: Among 116 patients (61 males) included, 16 patients (14 %) had ELPOP (11 males). The average age of those patients was 32.4 years (SD = 9.8), and the mean OP was 31.7 cm H2O (SD = 6.02) as opposed to the mean normal LPOP (NLPOP) of16.13 cm H2O (SD = 4.15). Body mass index (BMI) was significantly higher in the ELPOP group (p = 0.0081). Funduscopic examination was documented in 15/16 patients in the ELPOP group and revealed swollen optic discs in 6 (40 %) patients. Fundus examination was performed in 62 patients in the NLPOP group, of whom 2 (3.2 %) had a swollen disc. There was no difference in CSF content between groups. CONCLUSIONS: This study fills the void of information lacking on the frequency of ELPOP in aseptic meningitis. Its association with increased BMI may be related to the pathogenesis. LP OP should be measured in all patients with aseptic meningitis. Additional research is needed to determine the threshold of tolerated intracranial pressure (ICP).

Visual function tests including the role of optical coherence tomography in neurofibromatosis 1.

Optic pathway glioma (OPG) is a common and significant complication of neurofibromatosis 1 (NF-1) that might lead to vision loss. The main reason to treat OPG is to preserve vision. Tumor location along the visual pathway largely dictates the presenting signs and symptoms. Clinical ophthalmic evaluation is focused on optic nerve functions including evaluation of pupils' reaction to light, visual acuity, color vision, and visual field, as well as optic nerve appearance. An important relatively new ancillary test is optic coherence tomography (OCT) that measures the volume of retinal nerve fiber layer around the optic nerve and the ganglion cell layer-inner plexiform layer (GCL-IPL) of the macula, both proved to be strongly associated with losing vision in OPG. Accurate evaluation of vision functions plays a critical role in the decision of treatment. In this review, we describe the ophthalmological assessment including new biomarkers in clinical use. We also outline prognostic factors and current recommendations for surveillance and indications for treatment.