Ophthalmology Commons^™

A Model For Investigating Developmental Eye Repair In Xenopus Laevis, Cindy X. Kha, Philip H. Son, Julia Lauper, Kelly Ai-Sun Tseng

Life Sciences Faculty Research

Vertebrate eye development is complex and requires early interactions between neuroectoderm and surface ectoderm during embryogenesis. In the African clawed frog, Xenopus laevis, individual eye tissues such as the retina and lens can undergo regeneration. However, it has been reported that removal of either the specified eye field at the neurula stage or the eye during tadpole stage does not induce replacement. Here we describe a model for investigating Xenopus developmental eye repair. We found that tailbud embryos can readily regrow eyes after surgical removal of over 83% of the specified eye and lens tissues. The regrown eye reached a …

Patients And Animal Models Of Cngβ1-Deficient Retinitis Pigmentosa Support Gene Augmentation Approach., Simon M Petersen-Jones, Laurence M. Occelli, Paige A. Winkler, Winston Lee, Janet R Sparrow, Mai Tsukikawa, Sanford L. Boye, Vince Chiodo, Jenina E. Capasso, Elvir Becirovic, Christian Schön, Mathias W. Seeliger, Alex V. Levin, Stylianos Michalakis, William W. Hauswirth, Stephen H. Tsang

Wills Eye Hospital Papers

Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes. Here, we evaluated RP patients with CNGB1 mutations for potential biomarkers of progression and compared human phenotypes with those of mouse and dog models of the disease. Additionally, we used gene augmentation therapy in a CNGβ1-deficient dog model to evaluate potential translation …

Retinal Vasproliferative Tumor In A Case Of X-Linked Retinoschisis Detachment, N. A. Patel, D. Laura, K. D. Tran, S. Chang, G. Barile, A. M. Berrocal

Journal Articles

© 2018 Purpose: To describe the first published case of X-linked retinoschisis (XLRS) detachment with retinal vasoproliferative tumor (RVPT) and provide a literature review of the subject. Observations: The authors describe a case of a 17 year old male with X-linked retinoschisis who presented with a retinal detachment and a retinal vasoproliferative tumor. The patient was treated with pars plana vitrectomy, endolaser, subtenon's kenalog and anti-VEGF (vascular endothelial growth factor) intravitreal injections. He regained 20/60 vision with a flat macula and had significant resolution of the associated vasoproliferative leakage seen on fluorescein angiography. Conclusions and importance: This case adds XLRS …

Anti-Integrin Therapy For Inflammatory Bowel Disease, S. C. Park, Y. T. Jeen

Journal Articles

© The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved. In inflammatory bowel disease (IBD), tumor necrosis factor plays an important role in mediating inflammation, but several other pathways are also involved in eliciting an inflammatory response. One such pathway is the invasion of the intestinal mucosa by leukocytes. Leukocytes within the systemic circulation move to sites of inflammation, and blocking this pathway could be an important treatment strategy for IBD. Antiintegrin therapy blocks the action of integrin on the surface of circulating immune cells and endothelial cell adhesion molecules, thereby inhibiting the interactions between leukocytes and …

Real-Time, Label-Free, Intraoperative Visualization Of Peripheral Nerves And Microvasculatures Using Multimodal Optical Imaging Techniques, Jaepyong Cha, A Broch, S Mudge, K Kim, J Namgoong, E Oh, P Kim

Pediatrics Faculty Publications

Accurate, real-time identification and display of critical anatomic structures, such as the nerve and vasculature structures, are critical for reducing complications and improving surgical outcomes. Human vision is frequently limited in clearly distinguishing and contrasting these structures. We present a novel imaging system, which enables noninvasive visualization of critical anatomic structures during surgical dissection. Peripheral nerves are visualized by a snapshot polarimetry that calculates the anisotropic optical properties. Vascular structures, both venous and arterial, are identified and monitored in real-time using a near-infrared laser-speckle-contrast imaging. We evaluate the system by performing in vivo animal studies with qualitative comparison by contrast-agent-aided …

Adp-Ribosylation Factor-Like 2 (Arl2) Regulates Cilia Stability And Development Of Outer Segments In Rod Photoreceptor Neurons, Zachary C. Wright, Yuriy Loskutov, Daniel Murphy, Peter Stoilov, Elena Pugacheva, Andrew F.X. Goldberg, Visvanathan Ramamurthy

Faculty & Staff Scholarship

Photoreceptor cells are specialized neurons with a sensory cilium carrying an elaborate membrane structure, the outer segment (OS). Inherited mutations in genes involved in ciliogenesis frequently result in OS malformation and blindness. ADP-ribosylation factor-like 2 (ARL2) has recently been implicated in OS formation through its association with Binder of ARL2 (BART or ARL2BP), a protein linked to inherited blinding disease. To test the role of ARL2 in vision we created a transgenic mouse model expressing a tagged-dominant active form of human ARL2 (ARL2-Q70L) under a rod-specific promoter. Transgenic ARL2-Q70L animals exhibit reduced photoreceptor cell function as early as post-natal day …

The Impact Of Conjunctival Flap Method And Drainage Cannula Diameter On Bleb Survival In The Rabbit Model, Cooper D. Rodgers, Alissa M. Meyer, Nicole C. Rosenberg, Zachary L. Lukowski, Jamie L. Schaefer, Gina M. Martorana, Monica A. Levine, Craig A. Meyers, Mark B. Sherwood

Faculty & Staff Scholarship

Purpose

To examine the effect of cannula diameter and conjunctival flap method on bleb survival in rabbits undergoing cannula-based glaucoma filtration surgery (GFS).

Methods

Twelve New Zealand White rabbits underwent GFS in both eyes. The twenty-four eyes were divided into four groups. Two of the four groups (N = 12) received limbus-based con- junctival flaps (LBCF), and the other two (N = 12) received fornix-based conjunctival flaps (FBCF). Six FBCF rabbit eyes were implanted with 22-gauge drainage tubes, and the other six were implanted with 26-gauge tubes. Likewise, six LBCF rabbits received 22-gauge drainage tubes and six received 26-gauge tubes. …

Acute Posterior Multifocal Placoid Pigment Epitheliopathy Associated With Gastrointestinal Stromal Tumor And Hurthle Cell Tumor, Daniel D. Kim, Ghassan Ghorayeb

Faculty & Staff Scholarship

Acute posterior multifocal placoid pigment epitheliopathy (APMPEE) is a chorioretinal inflammatory disease of unknown origin. Patients usually present with a rapid loss of central/paracentral vision over the course of a week in both eyes. The fundus exhibits rapid appearance of multiple deep subretinal yellow-white, flat lesions at the RPE/choriocapillaris level. This in turn causes changes of both the ellipsoid zone and RPE which can result in permanent central vision loss. The pathogenesis is controversial but is associated with a recent viral illness and can involve the central nervous system with concern for cerebral vasculitis. Rare reports of APMPEE associated with …

Isolated Inferior Rectus Muscle Entrapment Following Endoscopic Sinus Surgery, Scott Shapiro, Jamie L. Schaefer, Sumeet Gupta, John Nguyen, Brian Kellerymeyer

Faculty & Staff Scholarship

Orbital complications are known risks of endoscopic sinus surgery (ESS). The lamina papyracea and medial rectus muscle are the most commonly injured structures during ESS. Inferior rectus injury is more rare, with only one reported case of isolated inferior rectus injury in the literature. Guidelines for managing ESS-induced inferior rectus injury do not exist, and delayed intervention and management of adjacent sinuses may affect long-term outcomes such as persistent diplopia and disfigurement. In this report, we present a case of a 67-year-old man with diplopia due to isolated left inferior rectus muscle entrapment and injury from violation of the orbital …

High Myopic Photorefractive Keratectomy Outcomes With The Alcon Wavelight® Ex500 Excimer Laser, Mark D. Mifflin, Brent S. Betts, Jason Nguyen, Severin Pouly

Faculty & Staff Scholarship

Purpose: To present refractive outcomes from consecutive cases with the Alcon Wavelight® EX500 excimer laser using photorefractive keratectomy (PRK) in patients with high myopia. Methods: A retrospective chart review of consecutive cases of high myopic eyes ($6.0 Diopters [D]) undergoing PRK with the Alcon Wavelight EX500 excimer laser (Alcon Labo- ratories, Fort Worth, TX, USA) was done. Moderately high myopic eyes (6.0 to ,8.0 D [6 D]) were compared with high myopic eyes (8.0 D or greater [8 D]). Outcomes measured included pre- and postoperative refractive error, uncorrected distance visual acuity (UDVA), corrected distance visual acuity, spherical equivalent correction (SEQ), …

Cost Effect Of Surgeon And Patient Discretion In Regard To Cataract Surgery, Tyler D. Oostra, Thomas F. Mauger

Faculty & Staff Scholarship

Purpose: The purpose of this study is to examine the cost effect of surgeon and patient discretion in regard to cataract surgery and how this affects population health care costs. Methods: A model of cataract progression was created from preexisting published data and combined with mortality data and Medicare cataract statistics to estimate the effect of mortality on decreasing the rate of cataract surgery if surgery was delayed until any cataract progression occurred.

Results: Five-year cataract progression rates were determined for a given patient age, sex, and type of cataract. Combined with 5-year death rates, delaying surgery until progression occurred …

Hereditary Diffuse Gastric Cancer: One Family's Story, H. M. Zylberberg, K. Sultan, S. Rubin

Journal Articles

No abstract provided.

Sarcoidosis Presenting As Wallenberg Syndrome And Panuveitis, M. Oks, A. Li, M. Makaryus, H. D. Pomeranz, M. Sachdeva, J. Pullman, D. Schwartz, H. Steinberg

Journal Articles

© 2018 The Authors Sarcoidosis is a multi-system disease with neurological involvement being one of the more rare manifestations. We report a case of a patient who presented with the lateral medullary syndrome and panuveitis as her initial manifestation of sarcoidosis. The patient's course was further complicated by renal involvement. Lacrimal gland and renal biopsies showed noncaseating granulomas without evidence of infection, establishing the diagnosis. Intracranial vertebral artery involvement was confirmed by brain imaging. Bilateral hilar lymphadenopathy with upper lobe predominant nodules on chest imaging was consistent with asymptomatic pulmonary involvement. Systemic steroid therapy is indicated for treatment of ocular …

A Small, Well-Differentiated Rectal Neuroendocrine Tumor With Multiple Lymph Node Metastases: A Case Report, S. J. Nam, G. B. Chae, S. Lee, S. C. Park, C. D. Kang, S. J. Lee

Journal Articles

© 2018, Spandidos Publications. All rights reserved. The incidence of rectal neuroendocrine tumor (NET), which is often diagnosed during routine surveillance endoscopy, is increasing. The majority of these tumors are small and asymptomatic, possessing benign features with favorable prognoses. At present, small rectal NETs without high-risk factors are typically treated by local resection, including endoscopic mucosal resection, endoscopic submucosal dissection, or transanal endoscopic microsurgery, with or without additional imaging follow-up by abdominal computed tomography or magnetic resonance imaging. The present study, however, describes a case of a small rectal NET without any known risk factors, which was accompanied by substantial …

Farnesylation Of The Transducin G Protein Gamma Subunit Is A Prerequisite For Its Ciliary Targeting In Rod Photoreceptors, Celine Brooks, Joseph Murphy, Marycharmain Belcastro, Daniel Heller, Saravanan Kolandaivelu, Oleg Kisselev, Maxim Sokolov

Faculty & Staff Scholarship

Primary cilia are microtubule-based organelles, which protrude from the plasma membrane and receive a wide range of extracellular signals. Various cilia use G protein-coupled receptors (GPCRs) for the detection of these signals. For instance, vertebrate rod photoreceptors use their cilia (also called outer segments) as antennae detecting photons by GPCR rhodopsin. Rhodopsin recognizes incoming light and activates its G protein, transducin, which is composed of three subunits α, β, and γ. Similar to all G protein γ subunits, the transducin Gγ1 subunit undergoes C-terminal prenylation resulting in the addition of an isoprenoid farnesyl; however, the significance of this posttranslational modification …

Treatment Challenges In An Atypical Presentation Of Tubulointerstitial Nephritis And Uveitis (Tinu), S Caplash, S Gangaputra, S Kodati, Shamir Tuchman, Hemalatha Srinivasalu, H Sen

Pediatrics Faculty Publications

Purpose: To describe an atypical presentation of Tubulointerstitial Nephritis and Uveitis (TINU), with challenges in treatment course. Observations: A 12-year-old Hispanic female presented to the National Eye Institute's Uveitis clinic with bilateral blurred vision, red eyes and photophobia, not responsive to topical steroids. On exam, she had bilateral severe panuveitis with areas of subretinal fluid. During her evaluation, she was noted to have elevated serum creatinine. A kidney biopsy confirmed the presence of severe tubulointerstitial nephritis and interstitial fibrosis. She was treated with oral steroids with excellent resolution of symptoms and subretinal fluid. She continued to have anterior segment flares …

Epha2/Ephrin-A1 Mediate Corneal Epithelial Cell Compartmentalization Via Adam10 Regulation Of Egfr Signaling., Nihal Kaplan, Rosa Ventrella, Han Peng, Sonali Pal-Ghosh, Constadina Arvanitis, Joshua Z Rappoport, Brian J Mitchell, Mary Ann Stepp, Robert M Lavker, Spiro Getsios

Anatomy and Regenerative Biology Faculty Publications

Purpose: Progenitor cells of the limbal epithelium reside in a discrete area peripheral to the more differentiated corneal epithelium and maintain tissue homeostasis. What regulates the limbal-corneal epithelial boundary is a major unanswered question. Ephrin-A1 ligand is enriched in the limbal epithelium, whereas EphA2 receptor is concentrated in the corneal epithelium. This reciprocal pattern led us to assess the role of ephrin-A1 and EphA2 in limbal-corneal epithelial boundary organization.

Methods: EphA2-expressing corneal epithelial cells engineered to express ephrin-A1 were used to study boundary formation in vitro in a manner that mimicked the relative abundance of these juxtamembrane signaling proteins in …

Elevated Pressure Increases Ca2+ Influx Through Ampa Receptors In Select Populations Of Retinal Ganglion Cells, Xiangyi Wen, Asia L. Cahill, Cody Barta, Wallace B. Thoreson, Scott Nawy

Journal Articles: Ophthalmology

The predominate type of AMPA receptor expressed in the CNS is impermeable to Ca²⁺ (CI-AMPAR). However, some AMPA receptors are permeable to Ca²⁺ (CP-AMPAR) and play important roles in development, plasticity and disease. In the retina, ganglion cells (RGCs) are targets of disease including glaucoma and diabetic retinopathy, but there are many types of RGCs and not all types are targeted equally. In the present study, we sought to determine if there are differences in expression of AMPARs amongst RGC subtypes, and if these differences might contribute to differential vulnerability in a model of stress. Using cultured RGCs …

Outcomes Of Cataract Surgery At Teaching Hospital In Karachi, Shaukat Ali Chhipa, Mustafa Kamal Junejo

Section of Ophthalmology

Objective: To assess outcomes of cataract surgery at a tertiary care hospital in Karachi.
Methods: This retrospective study was conducted at Aga Khan University Hospital, Karachi, and comprised data of patients who underwent cataract surgery from January 2011 to December 2015. The data was collected using guidelines based on World Health Organisation systems for quality monitoring. Postoperative follow-up was done at 1 day, 1 week, 4 weeks and after 12 weeks. Visual acuity was recorded as good (6/6-6/18), borderline (6/18-6/60) and poor (<6/60). Intraoperative and postoperative complications were also noted.
Results: Of the 570 patient chartsreviewed, 527(92.45%) were included in the study. Among them, 302(57.4%) were females …

Cgas Drives Noncanonical-Inflammasome Activation In Age-Related Macular Degeneration, Nagaraj Kerur, Shinichi Fukuda, Daipayan Banerjee, Younghee Kim, Dongxu Fu, Ivana Apicella, Akhil Varshney, Reo Yasuma, Benjamin J. Fowler, Elmira Baghdasaryan, Kenneth M. Marion, Xiwen Huang, Tetsuhiro Yasuma, Yoshio Hirano, Vlad Serbulea, Meenakshi Ambati, Vidya L. Ambati, Yuji Kajiwara, Kameshwari Ambati, Shuichiro Hirahara, Ana Bastos-Carvalho, Yuichiro Ogura, Hiroko Terasaki, Tetsuro Oshika, Kyung Bo Kim, David R. Hinton, Norbert Leitinger, John C. Cambier, Joseph D. Buxbaum, M. Cristina Kenney, Bradley D. Gelfand, Jayakrishna Ambati

Ophthalmology and Visual Science Faculty Publications

Geographic atrophy is a blinding form of age-related macular degeneration characterized by retinal pigmented epithelium (RPE) death; the RPE also exhibits DICER1 deficiency, resultant accumulation of endogenous Alu-retroelement RNA, and NLRP3-inflammasome activation. How the inflammasome is activated in this untreatable disease is largely unknown. Here we demonstrate that RPE degeneration in human-cell-culture and mouse models is driven by a noncanonical-inflammasome pathway that activates caspase-4 (caspase-11 in mice) and caspase-1, and requires cyclic GMP-AMP synthase (cGAS)-dependent interferon-β production and gasdermin D-dependent interleukin-18 secretion. Decreased DICER1 levels or Alu-RNA accumulation triggers cytosolic escape of mitochondrial DNA, which engages cGAS. Moreover, caspase-4, gasdermin …

Cataract Blindness: Socioeconomic Factors Associated With Treatment Barriers And High Blindness Rates For Women In Rural Regions Of Andhra Pradesh, Kiranpreet Kaur

AUCTUS: The Journal of Undergraduate Research and Creative Scholarship

Despite efforts of Vision 2020 in India, the 2001 Andhra Pradesh Eye Disease Study (APEDS) extrapolated that approximately 18.7 million blind people resided in India and projected an increase to 31.6 million blind people by 2020. Within the Andhra Pradesh state itself, the preventable blindness population had increased from approximately 1,143,150 people in 1990 to 1,402,264 people in 2001, against reformation attempts by the National Program for Control of Blindness. Of this, cataracts were consistently the leading cause of avoidable blindness. Numerous public health studies have been conducted to outline factors that preclude treatment of avoidable cataract blindness in the …

Cone Phosphodiesterase-6Γ’ Subunit Augments Cone Pde6 Holoenzyme Assembly And Stability In A Mouse Model Lacking Both Rod And Cone Pde6 Catalytic Subunits, Wen-Tao Deng, Saravanan Kolandaivelu, Astra Dinculescu, Jie Li, Ping Zhu, Vince A. Chiodo, Visvanathan Ramamurthy, William W. Hauswirth

Faculty & Staff Scholarship

Rod and cone phosphodiesterase 6 (PDE6) are key effector enzymes of the vertebrate phototransduction pathway. Rod PDE6 consists of two catalytic subunits PDE6α and PDE6β and two identical inhibitory PDE6γ subunits, while cone PDE6 is composed of two identical PDE6α’ catalytic subunits and two identical cone-specific PDE6γ’ inhibitory subunits. Despite their prominent function in regulating cGMP levels and therefore rod and cone light response properties, it is not known how each subunit contributes to the functional differences between rods and cones. In this study, we generated an rd10/cpfl1 mouse model lacking rod PDE6β and cone PDE6α’ subunits. Both rod and …

Microtubule Imaging Reveals Cytoskeletal Deficit Predisposing The Retinal Ganglion Cell Axons To Atrophy In Dba/2j, Denis Sharoukhov, Festa Bucinca-Cupallari, Hyungsik Lim

Publications and Research

PURPOSE: Glaucoma is characterized by progressive loss of the retinal ganglion cells (RGCs) and their axons. Here we test an outstanding notion that microtubules (MTs) within RGC axons degrade before the loss of morphology (‘‘MT hypothesis’’).

METHODS: The integrity of axonal MTs was interrogated by intrinsic second-harmonic generation (SHG) microscopy. Using DBA/2J mice as a model of glaucoma and DBA/2J-Gpnmbþ as a nonglaucomatous control, the relationship between MT disruption and morphology was quantitatively examined as a function of age and sex in the fresh retinal wholemounts.

RESULTS: The mean SHG density (i.e., the mean SHG intensity per thickness) was significantly …

Improving Aav Transduction Efficiency In Retinal Bipolar Cells For Optogenetic Vision Restoration, Shengjie Cui

Wayne State University Dissertations

Recombinant adeno-associated virus (AAV) vectors are the most promising vehicles for therapeutic gene delivery to the retina. We are developing AAV-mediated expression of optogenetic tools in surviving inner retinal neurons as a potential strategy to restoring vision after the death of photoreceptor cells in retinal degeneration. Targeting optogeneitc tools, such as channelrhodopsin-2 (ChR2), to retinal bipolar cells (RBCs) is particularly attractive. In particular, our lab has recently developed an optimized mGluR6 promoter-based virus vector that can mainly target ChR2 to rod bipolar cells. However, AAV-mediated transduction efficiency in RBCs is relatively low. The transduction efficiency could be affected by a …

Inflammation In The Pathogenesis Of Diabetic Retinopathy, Haoshen Shi

Wayne State University Dissertations

The general purpose of these studies is to investigate inflammation in diabetic retinopathy in an effort to identify key intervention points to develop as treatments. Firstly, we showed that the neuropeptide VIP displayed protective immunoregulatory effects on retinal endothelial cells cultured under high glucose conditions. This effect was carried out, in part through the VPAC2 receptor.

Next, we studied the β-adrenergic receptor agonist, Compound 49b, and its effect on the pro-resolving RvD1 pathway. Compound 49b was previously shown to suppress both inflammatory and apoptotic responses in DR. We demonstrated that Compound 49b rescued the high glucose-induced decrese in RvD1 and …

Two-Component Hydrogel As Biomimetic Vitreous Substitutes, Sruthi Santhanam

McKelvey School of Engineering Graduate Student Theses & Dissertations

The vitreous humor of the eye is a biological hydrogel principally composed of fibrillary collagen interspersed with semi-flexible polyelectrolyte, hyaluronic acid (HA). Certain pathological conditions necessitate its removal and replacement. Current vitreous substitutes, such as silicone oils and perfluorocarbons, are hydrophobic, do not resemble the properties of the vitreous, and have known complications. An ideal vitreous substitute should have properties of the natural vitreous, perform its functions, and be biocompatible in the eye. Inspired by the structure and composition of the natural vitreous, we used bio-mimicry to develop an injectable two-component hydrogel. The hydrogel is composed of a fibrillary gellan, …

Impact Of Natural Blind Spot Location On Perimetry., Mengyu Wang, Lucy Q. Shen, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Jonathan S. Myers, Peter J. Bex, Tobias Elze

Wills Eye Hospital Papers

We study the spatial distribution of natural blind spot location (NBSL) and its impact on perimetry. Pattern deviation (PD) values of 11,449 reliable visual fields (VFs) that are defined as clinically unaffected based on summary indices were extracted from 11,449 glaucoma patients. We modeled NBSL distribution using a two-dimensional non-linear regression approach and correlated NBSL with spherical equivalent (SE). Additionally, we compared PD values of groups with longer and shorter distances than median, and larger and smaller angles than median between NBSL and fixation. Mean and standard deviation of horizontal and vertical NBSL were 14.33° ± 1.37° and -2.06° ± …

The Neuroprotective Effect Of Human Cd34 Positive Stem Cells On The Survival Of Injured Retinal Ganglion Cells, Amro Ali, J Tiapo, Thaddeus Wandel, Sansar Sharma

NYMC Faculty Publications

No abstract provided.

Parafoveolar Retinoblastoma Regression With Foveal Preservation Following Intra-Arterial Chemotherapy Documented On Hand-Held Optical Coherence Tomography In A Newborn., Vera Yarovaya, Kareem Sioufi, Carol L Shields

Wills Eye Hospital Papers

Background: Optical coherence tomography (OCT) has become an invaluable tool in retinoblastoma management, providing submillimeter visualization of tumor control following treatment. Herein, we document OCT-detection of a subtle tumor recurrence, allowing early intervention and achieving foveal microanatomy preservation.

Case presentation: A 3-week-old girl was diagnosed with bilateral familial retinoblastoma, classified as group D in the right eye (OD) and group B in the left eye (OS), and treated with intravenous chemoreduction. At 6-months follow-up, the right eye was under control, but the left eye revealed a subtle juxtafoveal tumor recurrence, documented on handheld OCT (HH-OCT) and measuring 2750 µm in …

Retinitis Pigmentosa Genes Implicated In South Asian Populations: A Systematic Review, Sidra Zafar, Khabir Ahmed, Azam Ali, Rashid Baig

Section of Ophthalmology

Retinitis pigmentosa is one of the most prevalent causes of inherited retinal dystrophies worldwide. The widespread custom of consanguineous marriages in South Asian countries puts the population at risk for autosomal recessive disorders including retinitis pigmentosa. This systematic review was done between May and December 2015.A comprehensive literature search was carried out using MEDLINE and CINAHL databases and all relevant articles on causative mutations for non-syndromic Retinitis pigmentosa from 1999 till 2015 were included. Overall, 41 articles were identified involving 66 families; 28(68%)from Pakistan, 12(29%) from India and 1(2.4%) from Bangladesh. No data was available from the rest of countries …