Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers.

PurposeWe present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by myelination on other imaging modalities.MethodsA 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye.ResultsFunduscopic examination and photography revealed the incidental finding of bilateral extensive peripapillary MRNF. OCT angiography provided excellent visualization of peripapillary retinal vessels, which were partially obscured by myelination on other imaging modalities.ConclusionsThis association of Crouzon syndrome with bilateral peripapillary MRNF may lend insight into the developmental control of optic nerve myelination, the pathogenesis of MRNF, and the potential role of growth factors in these processes. Further, OCT angiography allowed for excellent blood vessel visualization in this case of MRNF

Bilateral Internuclear Ophthalmoplegia as a First Presentation of Neuro-Sweet Syndrome

To describe a patient with Neuro-Sweet syndrome presented with bilateral internuclear ophthalmoplegia (INO

Validity of Forced Eyelid Closure Test: A Novel Clinical Screening Test for Ocular Myasthenia Gravis.

Forced eyelid closure test (FECT) is a clinical screening test developed from the original Cogan lid twitch (CLT) sign to assist in the diagnosis of ocular myasthenia gravis (OMG), We evaluated the sensitivity and specificity of FECT compared with CLT and benchmarked to standard diagnostic tests. This study was a retrospective chart review of 48 patients using electronic medical records of those that presented with ptosis and/or diplopia at Doheny Eye Institute, University of California, Los Angeles between February 2015 and April 2016. Patients without FECT testing were excluded. FECT and CLT results, and final diagnosis were recorded. To perform FECT, the patient was asked to squeeze his or her eyelids shut for 5-10 seconds then open quickly and fixate in primary position. The excessive upward overshoot of eyelids movement indicated a positive FECT. The test was performed by a neuro-ophthalmologist before establishing the diagnosis. Patients who had equivocal test results and/or inconclusive final diagnosis were excluded. Of the 48 patients studied, 18 patients (37.5%) had positive FECT; 15 of whom had a final diagnosis of OMG (83.3%). Of the 30 patients with negative FECT, 1 had OMG (3.3%). Of the 48 patients, 35 patients also had a documented CLT result (72.9%). CLT was positive in 11 of these 35 patients (31.4%), and 9 of these 11 had OMG (81.8%). Of the 24 patients with negative CLT, 2 of them had OMG (8.3%). Sensitivity and specificity of FECT were 94% and 91% (joint 95% confidence region: sensitivity × specificity = [0.70, 1] × [0.75, 1]). The relative true-positive fraction (rTPF) between FECT and CLT was 1.15; the relative false-positive fraction was 1.31. FECT is a simple clinical screening test with good sensitivity and specificity for OMG

Progressive Visual Loss An Unusual Presenting Symptom In Giant Cell Arteritis

"Arteritic anterior ischemic optic neuropathy (AAION) due to Giant cell arteritis (GCA) is a rare cause of visual loss in Asian people. However, there are a few AAION cases in Asian that have been reported. In general, patient with AAION usually presented with acute severe visual loss with disc edema and systemic presentation of GCA.

Interobserver and Intra-Observer Reliability of Eyelid Tests for Ocular Myasthenia Gravis

Background: Lid fatigability test (LFT), Cogan lid twitch (CLT), and forced eyelids closure test (FECT) are simple clinical screening tests for ocular myasthenia gravis (OMG). However, these tests are subjectively interpreted. We thus evaluated the interobserver and intra-observer reliability of each test. Methods: The 3 eyelid tests were performed in ptotic patients associated with various conditions, including OMG and others. Video clips of all tests were recorded using smartphone with built-in camera in the following order; LFT, CLT, and FECT. All video clips were distributed to 3 neuro-ophthalmologists and 3 general ophthalmologists, who were trained to evaluate the tests using a single standard instruction. After 3 months, all video clips were re-organized for the second evaluation. Interobserver and intra-observer reliability were calculated using Cohens' Kappa coefficient and Fleiss Kappa statistic. Results: The 3 eyelid tests were performed and recorded in 35 patients, which included the diagnosis of OMG, levator muscle dehiscence, partial oculomotor nerve palsy, and Horner syndrome. CLT received moderate-to-substantial interobserver reliability in neuro-ophthalmologist group (Fleiss Kappa 0.77 [95% CI 0.60-0.94] and 0.66 [95% CI 0.46-0.85] in first and second evaluation respectively), but the results varied in general ophthalmologist group (Fleiss Kappa 0.58 [95% CI 0.37-0.79] and 0.54 [95% CI 0.33-0.76] in first and second evaluation respectively). FECT and LFT received lower interobserver reliability in both groups. CLT also received moderate-to-almost perfect intra-observer reliability in neuro-ophthalmologist group (Cohen Kappa 0.55, 0.58, and 0.92), whereas FECT and LFT received lower intra-observer reliability. The intra-observer reliability varied among general ophthalmologists for all 3 eyelid tests. Conclusions: CLT is the most reliable test among the 3 eyelid tests. However, all tests should be interpreted with caution by general ophthalmologists

Giant cell arteritis mimicking orbital apex syndrome: A case report

Giant cell arteritis (GCA) is a large-vessel vasculitis in elderly Caucasian. Arteritic anterior ischemic optic neuropathy (AAION) is the most common ophthalmic manifestation. We report unilateral visual loss with complete ophthalmoplegia, mimicking orbital apex syndrome as a rare presentation of GCA

Syphilitic Optic Neuropathy

"Although the ocular manifestation of syphilis can affect any structures of the eye, optic nerve involvement is not a common presentation. We report a series of 7 new cases of syphilitic optic neuropathy in a tertiary center.