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

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: FECT is a simple clinical screening test with good sensitivity and specificity for OMG.

SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF THE OPTIC DISK IN OPTIC NEUROPATHY.

PURPOSE: To evaluate the optic nerve head microvasculature in eyes with acute and chronic optic neuropathies using swept-source optical coherence tomography angiography. METHODS: In this cross-sectional, observational study, optical coherence tomography angiography images were obtained from the optic nerve heads of 21 eyes of 12 patients with optic disk edema, pseudoedema and atrophy, and 12 eyes of 6 healthy subjects using a 1,050-nm optical coherence tomography angiography (Topcon DRI OCT; Triton). Peripapillary vasculature was assessed within five horizontal slabs consisting of the nerve fiber layer (NFL), ganglion cell layer, inner nuclear layer, choroidal layer, and full-thickness retinal layer. In addition, prelaminar and laminar slabs were evaluated. Vessel density was measured within a 3.4-mm diameter circle centered on the optic disk. RESULTS: The abnormalities of the peripapillary capillary network were most apparent in the NFL and total retinal slabs. In eyes with disk edema, an increase or decrease in the visibility of the peripapillary capillary network was observed. Eyes with optic atrophy had decreased visibility of peripapillary capillary network corresponding to the region or sector of NFL thinning. Prelaminar capillary network was dilated and tortuous in eyes with disk edema. The mean vessel density was statistically significantly lower and the mean NFL thickness was statistically significantly thinner in eyes with optic atrophy compared with normal eyes (both P < 0.001). Vessel density was significantly correlated with the peripapillary NFL thickness (P < 0.001). CONCLUSION: Optical coherence tomography angiography provides high-resolution, noninvasive visualization of the microvasculature of the optic nerve head and peripapillary region. Changes in the microvasculature in this region may prove useful in better characterization of optic neuropathies.

Correcting Finger Counting to Snellen Acuity.

In this paper, the authors describe an online tool with which to convert and thus quantify count finger measurements of visual acuity into Snellen equivalents. It is hoped that this tool allows for the re-interpretation of retrospectively collected data that provide visual acuity in terms of qualitative count finger measurements.

Fractional photothermolysis treatment of digital cutis laxa reverses hand disability.

In this case study, we present a safe and novel treatment for a patient with soft tissue hand disability caused by severe and chronic lupus and cutis laxa (CL). This patient was a woman in her 50s with a 20-year history of systemic lupus erythematous (SLE) and multiple sclerosis who developed hand disability because of the drastic loss of firmness in her soft tissue, extending from the dermis down to the ligaments. The likely cause was CL with SLE synovitis, exacerbated by corticosteroid tapering. Fractional photothermolysis (FP) LASER (Fraxel DUAL 1550/1927; Solta Medical) therapy profoundly alleviated her joint locking in addition to improving the firmness of the overlying skin to reverse her hand disability. This case illustrates a novel approach to CL hand treatment and the profound impact the treatment had on the patient's disabled hand. FP therapy is quick and safe, and its medical application to skin and joints should be further explored.

Choroidal thickness and the retinal ganglion cell complex in chronic Leber's hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography.

BACKGROUND/OBJECTIVES: Choroidal thinning has been suggested in Leber's hereditary optic neuropathy (LHON). No study has been conducted of the choroid in relation to the retinal ganglion cell-inner plexiform layer (RGC-IPL). We sought to measure choroidal thickness in chronic LHON and to correlate thickness changes with the RGC-IPL. SUBJECTS/METHODS: Chronic LHON, 11778 mitochondrial DNA (mtDNA) mutation, patients (26 eyes; mean age: 35.1 ± 16.1 years) were prospectively recruited at Doheny Eye Center, University of California Los Angeles from March 2016 to July 2017. Age-matched healthy controls (27 eyes; mean age: 32.4 ± 11.1 years) were enroled for comparison. Swept-source optical coherence tomography (SS-OCT) imaging was performed in chronic LHON patients and compared with age-matched healthy controls. RESULTS: The macular choroid was significantly thinner in chronic LHON (250.5 ± 62.2 µm) compared with controls (313.9 ± 60.2 µm; p < 0.0001). The peripapillary choroid was also significantly thinner in chronic LHON (135.7 ± 51.4 µm) compared with controls (183.0 ± 61.8 µm, p < 0.001). Choroidal thickness strongly correlated with retinal nerve fibre layer (RNFL) thickness in both the macular (R2 = 0.72; 95% CI, 0.57-0.84) and peripapillary regions (R2 = 0.53; 95% CI, 0.31-0.70). Choroidal thickness was also significantly correlated with macular RGC-IPL thickness (R2 = 0.51; 95% CI, 0.26-0.73). CONCLUSIONS: Choroidal thinning in chronic LHON correlated strongly with both RNFL and RGC-IPL thicknesses. These findings may suggest a pathophysiological mechanism involving vascular pathology of the choroid in relation to the retinal ganglion cell complex in LHON.

Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation.

The purpose of the present article was to evaluate the previously unreported vascular alterations in Leber's Hereditary Optic Neuropathy (LHON) 3460 mitochondrial DNA (mtDNA) mutation. Among the three primary mtDNA mutations, namely 11778, 14484, and 3460, LHON 3460 is the most rare and historically recognized as having the poorest visual prognosis. Optical coherence tomography angiography (OCTA) is a novel imaging modaility providing high-resolution microcirculation maps and enhancing visualization of the optic disc and peripapillary capillary beds. We herein exploit the advantages of OCTA, for the first time, to assess the optic nerve head and peripapillary microvasculature changes in an affected patient and compare these vascular changes with an asymptomatic carrier for LHON 3460, serving as a control. Vascular changes in LHON 11778 and 14484 have classically shown microvasculature attenuation localized specifically to the temporal peripapillary quadrant. In the present case, however, OCTA in LHON 3460, the most severe of the three mutational subtypes, illustrated significant vascular attenuation involving the nasal peripapillary region in addition to the temporal peripapillary microvascular changes classically seen in LHON. Our findings suggest that vascular measures may serve useful for objectively assessing mitochondrial disease. Further OCTA studies involving the nasal peripapillary region may be warranted to further understand vascular pathogenesis in LHON.

Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy.

Background: Mitochondrial optic neuropathies such as Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA) have been shown to produce an optic neuropathy secondary to retinal ganglion cell loss with thinning of the retinal ganglion cell complex (RGCC). Methods: We performed a retrospective analysis assessing the thicknesses of the peripapillary retinal nerve fiber layer (pRNFL) along with the macular retinal ganglion cell-inner plexiform layer (RGC-IPL) using optical coherence tomography (OCT). We compared these changes among acute and chronic LHON, DOA, and normal healthy control patients. Results: Patients with chronic LHON exhibited statistically significant thinning of the RNFL in the superior, nasal, and inferior quadrants of the retina. In acute LHON, the RNFL was relatively thicker in all but the temporal quadrant when compared with respective quadrants in normal eyes; however, statistical significance was not achieved. In DOA, the RNFL was thinnest in the superior and inferior quadrants of the retina, measuring between acute and chronic LHON thickness values. In chronic LHON and DOA, both the pRNFL and RGC-IPL were significantly thinner in all four retinal quadrants relative to controls. Conclusions: This article represents the first comparative study of the RGCC between LHON and DOA. Our findings demonstrated significant thickness reductions in pRNFL and macular RGC-IPL in patients with LHON and DOA, with different specific patterns consistent with the general patterns of thinning classically observed. This study suggests the usefulness of the RGCC as a potential in vivo biomarker for assessing disease in patients with LHON and DOA.

Comparison of 2 pupil expansion devices for small-pupil cataract surgery.

UNLABELLED: We compared the degree of postoperative iris distortion with the diamond-shaped Malyugin ring and the circular Visitec I-Ring iris dilators using postoperative iris photographs in a patient with bilateral small nondilating pupils. Routine phacoemulsification was performed in the right eye with the assistance of a Malyugin ring for iris dilation. One month later, the same procedure was performed in the left eye using the circular ring for iris dilation. Anterior chamber slitlamp photographs were taken of both eyes. The amount of distortion in the postoperative pupils was calculated using the ratio of the postoperative pupil area to the area of the circle of best fit. The circular ring, constructed from a softer material, resulted in 11% distortion and the Malyugin ring, 49%, suggesting that the circular ring caused less trauma to the iris. FINANCIAL DISCLOSURE: None of the authors has a financial or proprietary interest in any material or method mentioned.

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

PURPOSE: We 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. METHODS: A 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye. RESULTS: Funduscopic 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. CONCLUSIONS: This 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.