SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS.

PURPOSE: The aim of this study was to investigate the presenting sign of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, a rare autosomal dominant condition caused by mutations in the TREX1 gene, and to explore the potential efficacy of bevacizumab in preventing capillary occlusions. METHODS: Observational case report with the use of ultra-widefield fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. RESULTS: A 31-year-old man with a family history of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations presented with a scotoma in his left eye. The visual acuity was 20/20 in both eyes, and his examination was notable for scattered cotton wool spots in the retina of both eyes as well as an area of paracentral acute middle maculopathy in the left eye. Ultra-widefield fluorescein angiography revealed peripheral capillary nonperfusion and vascular leakage corresponding to the cotton wool spots. Spectral domain optical coherence tomography and optical coherence tomography angiography confirmed the presence and distribution of superficial capillary plexus and deep capillary plexus ischemia. Neurologic examination and imaging were normal. A trial of monthly intravitreal bevacizumab injections to the left eye over 6 months resulted in diminished capillary leakage. CONCLUSION: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a rare genetic condition manifested most commonly by cerebral and retinal ischemia. This retinal vasculopathy leads to occlusions of small-caliber retinal vessels in the superficial plexus and deep plexus with resulting cotton wool spots and paracentral acute middle maculopathy, respectively. Recognition of the retinal findings by ophthalmologists and neurologists may avoid unnecessary brain biopsies in diagnosing this rare disorder.

Insights Into Epiretinal Membranes: Presence of Ectopic Inner Foveal Layers and a New Optical Coherence Tomography Staging Scheme.

PURPOSE: To describe the presence of continuous ectopic inner foveal layers associated with epiretinal membranes (ERMs) and to present a new optical coherence tomography (OCT) staging system of ERMs. DESIGN: Retrospective multicenter observational case series. METHODS: Clinical charts and spectral-domain OCT images of 194 eyes of 172 consecutive patients diagnosed with ERMs were reviewed and analyzed. RESULTS: The presence of continuous ectopic inner foveal layers was identified in 63 out of 194 eyes (32.5%) and this morphology was significantly associated with lower visual acuity. ERMs were divided into 4 stages. Stage 1 (43 out of 194 eyes, 22.1%) ERMs were mild and thin and a foveal depression was present. Stage 2 (88 out of 194 eyes, 45.4%) ERMs were associated with widening of the outer nuclear layer and loss of the foveal depression. Stage 3 (51 out of 194 eyes, 26.3%) ERMs were associated with continuous ectopic inner foveal layers crossing the entire foveal area. In stages 1, 2, and 3 all retinal layers were clearly defined on OCT. Stage 4 ERMs (12 out of 194 eyes, 6.2%) were thick and associated with continuous ectopic inner foveal layers. In addition, retinal layers were disrupted. Visual acuity progressively declined from stage 1 through stage 4 (P < .001). CONCLUSIONS: The presence of continuous ectopic inner foveal layers in ERMs is a newly described OCT finding associated with significant vision loss and is an essential element of a novel OCT-based grading scheme of ERMs that may influence visual prognosis.

Deformation of Optic Nerve Head and Peripapillary Tissues by Horizontal Duction.

PURPOSE: To ascertain deformation of the optic nerve head (ONH) and peripapillary tissues caused by horizontal duction. DESIGN: Prospective, experimental study. METHODS: Optical coherence tomography of the ONH region was performed in 23 eyes of 12 normal volunteers in central gaze and increasing (10, 20, and 30 degrees) adduction and abduction. Main outcome measures were changes from central gaze in the configuration of the ONH and peripapillary tissues in eccentric gazes. RESULTS: Adduction but not abduction was associated with significant, progressive relative posterior displacement of the temporal peripapillary retinal pigment epithelium (tRPE) from its position in central gaze reaching 49 ± 10 µm in 30-degree adduction (standard error of mean, P < .0001). Absolute (anterior or posterior) optic cup displacement (OCD) averaged 41 ± 7 µm in 30-degree adduction. Linear regression showed significant effect of adduction on absolute OCD (slope 1.09 ± 0.36 µm/degree, P = .0037). In 20-degree and 30-degree adduction, all eyes exhibited significant progressive temporal ONH tilting reaching 3.1 ± 0.4 degrees in 30-degree adduction (P < .0001). Abduction was not associated with significant peripapillary RPE displacement, OCD, or ONH tilt. Both nasal and temporal peripapillary choroid averaged 9-19 µm thinner in adduction and abduction than in central gaze (P < .02). CONCLUSIONS: Adduction temporally tilts and displaces the prelaminar ONH and peripapillary tissues. Both adduction and abduction compress the peripapillary choroid. These effects support magnetic resonance imaging and biomechanical evidence that adduction imposes strain on the ONH and peripapillary tissues. Repetitive strain from eye movements over decades might in susceptible individuals lead to optic neuropathies such as normal tension glaucoma.

ULTRA-WIDEFIELD FUNDUS IMAGING: A Review of Clinical Applications and Future Trends.

PURPOSE: To review the basic principles of ultra-widefield fundus imaging and discuss its clinical utility for a variety of retinal and choroidal disorders. METHODS: A systematic review of the PubMed database was performed using the search terms Optos, optomap, panoramic, ultra-widefield, wide-angle, and ellipsoid mirror. This yielded 158 publications of which 128 were selected based on content and relevance. RESULTS: A total of 128 articles pertaining to ultra-widefield imaging were cited in this review. CONCLUSION: Optos ultra-widefield imaging has become an essential tool for the identification of peripheral retinal and vascular pathology. The high resolution and multimodal capabilities of this device are also providing new insights into a variety of disorders, even those that primarily involve the posterior pole. Although the presence of artifact and the need for clinical validation are significant hurdles to more widespread use, ultra-widefield is evolving to become the standard-of-care imaging modality for many diseases and is finding new clinical and research applications such as for screening and telemedicine.