Ophthalmology Commons^™

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum And Novel Clinical Observations In 241 Patients, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J. F. Boon, Jonathan Hensman, Ta-Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John R. Grigg, Robyn V. Jamieson, Elisa E. Cornish, Benjamin M. Nash, Shyamanga Borooah, Lauren N. Ayton, Alexis Ceecee Britten-Jones, Thomas L. Edwards, Jonathan B. Ruddle, Abhishek Sharma, Rowan G. Porter, Tina M. Lamey, Terri L. Mclaren, Samuel Mclenachan, Danial Roshandel, Fred K. Chen

Wills Eye Hospital Papers

PURPOSE: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.

METHODS: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype-phenotype correlations.

RESULTS: The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, …

Vascular Perfusion In Persistent Pupillary Membrane Of The Iris., Michael Chang, David Ancona-Lezama, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

A Comparison Between Optical Coherence Tomography Angiography And Fluorescein Angiography For The Imaging Of Type 1 Neovascularization., Maiko Inoue, Jesse J. Jung, Chandrakumar Balaratnasingam, Kunal K. Dansingani, Elona Dhrami-Gavazi, Mihoko Suzuki, Talisa E. De Carlo, Abtin Shahlaee, Michael A. Klufas, Adil El Maftouhi, Jay S. Duker, Allen C. Ho, Maddalena Quaranta-El Maftouhi, David Sarraf, K. Bailey Freund

Wills Eye Hospital Papers

Purpose: To determine the sensitivity of the combination of optical coherence tomography angiography (OCTA) and structural optical coherence tomography (OCT) for detecting type 1 neovascularization (NV) and to determine significant factors that preclude visualization of type 1 NV using OCTA.

Methods: Multicenter, retrospective cohort study of 115 eyes from 100 patients with type 1 NV. A retrospective review of fluorescein (FA), OCT, and OCTA imaging was performed on a consecutive series of eyes with type 1 NV from five institutions. Unmasked graders utilized FA and structural OCT data to determine the diagnosis of type 1 NV. Masked graders evaluated FA …

Vanishing Retinal Arterial Aneurysms With Anti-Tubercular Treatment In A Patient Presenting With Idiopathic Retinal Vasculitis, Aneurysms, And Neuroretinitis., Ramandeep Singh, Kusum Sharma, Aniruddha Agarwal, Mohit Dogra, Vishali Gupta, Aman Sharma, Mangat R. Dogra

Journal Articles: Ophthalmology

BACKGROUND: Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome presents with characteristic clinical manifestations such as aneurysms at arteriolar bifurcations and optic nerve and retinal vascular inflammation. Regression of such features on treatment with anti-tubercular therapy (ATT) combined with corticosteroids has not been reported in literature.

FINDINGS: A 30-year-old female with sudden painless decreased vision in the left eye was referred with a diagnosis of presumed tuberculous retinal vasculitis and a positive tuberculin skin test. Based on the clinical and angiographic features of the right eye, a diagnosis of IRVAN syndrome was made. In the left eye, the patient had …

Ultra-Wide-Field Retinal Imaging In The Management Of Non-Infectious Retinal Vasculitis., Henry A. Leder, John P. Campbell, Yasir J. Sepah, Theresa Gan, James P. Dunn, Elham Hatef, Brian Cho, Mohamed Ibrahim, Millena Bittencourt, Roomasa Channa, Diana V. Do, Quan Dong Nguyen

Journal Articles: Ophthalmology

BACKGROUND: The purpose of this study is to describe and quantify the benefit of ultra-wide-field imaging and fluorescein angiography (FA) in the management of non-infectious retinal vasculitis. In this prospective observational cohort series, patients with non-infectious retinal vasculitis were evaluated and enrolled by four investigators from the Divisions of Retina and Ocular Immunology at the Wilmer Eye Institute. In each patient, disease activity and the need for management changes were assessed, based on clinical examination with or without standard (60°) imaging and then with the addition of ultra-wide-field pseudo-color scanning laser ophthalmoscope (SLO) images and FA using the Optos ultra-wide-field …

Choroidal Neovascularization Regression On Fluorescein Angiography After Vegf Blockade., Diana V. Do, Lark Greenwald, Mohamed Ibrahim, Yasir J. Sepah, Quan Dong Nguyen

Journal Articles: Ophthalmology

BACKGROUND: Intravitreal vascular endothelial growth factor (VEGF) inhibitors stabilize vision in a majority of patients with neovascular age-related macular degeneration (AMD) and can improve vision in almost 40% of patients. However, some individuals who respond to anti-VEGF treatment still lose vision due to the formation of geographic atrophy (GA). While optical coherence tomography is often the primary imaging modality used, fluorescein angiography (FA) can provide useful information on GA development after choroidal neovascularization (CNV) regression.

METHODS: A retrospective chart review was conducted to evaluate the changes seen on FA over a 47-month period for 3 patients with neovascular AMD treated …