OGSC 2021 – Morning Recordings

Dear Friends and Colleagues

Below are the recordings from the Morning Session of the recent OGSC 2021 Virtual Meeting. 

Ginny & Elias
Virginia M. Utz & Elias I. Traboulsi

Presentation Titles and Speakers

101     Anisometropia And Asymmetric ABCA4-Related Cone-Rod Dystrophy    Cristina Santos, MD    Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal

102    MIDAS Syndrome – If It Glitters, Is It Gold?    Elizabeth R Kellom, MS, CGC    The Waisman Center & UW Health Ophthalmology

103    Signal Peptide Variants In Inherited Retinal Diseases: A Case Series    Hiram J. Jimenez, MD    Wills Eye Institute

104    De Novo CACNA1A Variant In A Patient With Episodic Ataxia Type 2 And Albinotic Features    Kelly Schooping Tripi, MS, CGC       UPMC, Pittsburgh, USA

105    Broadening The Ocular Phenotypic Spectrum of BRPF1 Mutation    Giacomo Bacci, MD, PhD    Meyer Children’s Hospital, Fi, Italy

106    Unexpected Inheritance Pattern And Recurrence: Two Siblings With An Inherited KIF11 Pathogenic Variant Due To Gonasomal Mosaicism In A Parent And Interfamilial Variability    Diana Brightman, PhD, MS, CGC    Cincinnati Children’s Hospital Medical Center

107     The Teenager With Decreased Vision And An Unremarkable Ophthalmic Exam    Natario Couser, MD, PhD    Virginia Commonwealth University

108    A Rare Case of Sudden Bilateral Vision Loss    Christopher Turski, M.D.    University of Kentucky

109    Adult-Onset Maculopathy    Arif Khan, MD    Cleveland Clinic AbuDhab

110    Kjer Optic Atrophy: A Two-Generation Family    Scott E. Brodie, MD    NYU Langone Health

111    Macular OCT Diagnosis of A Dominant Optic    Atrophy Sarah Hull, MD, Phd    The University of Auckland, New Zealand

112    Pseudopapilledema In Cockayne Syndrome    Michael Brodsky, MD    Mayo Clinic

113    Retrospective Analysis of Hypomorphic Variants In Inherited Retinal Diseases And Proposed Guidelines For Classifying A Variant As Hypomorphic     Tobin Thuma, DO    Wills Eye Hospital

114    ADAMTSL4-Related Ectopia Lentis: Pseudodominance With An Asymptomatic Parent    Hannah Scanga, MS, CGC    UPMC/CHP

115    Marilyn Miller, MD    Irene H. Maumenee, MD     Columbia University

116    Scientific Presentation    In Memory of Marilyn Miller    MD Arlene V. Drack, MD    University of Iowa

OGSC 2021 – Afternoon Recordings

Dear Friends and Colleagues

Below are the recordings from the Afternoon Session of the recent OGSC 2021 Virtual Meeting.

Ginny & Elias
Virginia M. Utz & Elias I. Traboulsi

Presentation Titles and Speakers

117    A Novel C.1937t>C (P.Leu646Pro) Missense Mutation In A Patient With Leber Congenital Amaurosis    Savleen Kaur, MD    Department Of Ophthalmology (Advanced Eye Centre), Post Graduate Institute Of Medical Education And Research (PGIMER) Chandigarh, India

118    A Case of Pericentral RP    Fyqah Almhmoudy, M.D.    Cole Eye Institute

119    Evolving Fibrotic Lesions In A Patient With ABCA4-Associated Retinopathy    Matthew Benson, MD    University of Alberta

120    X-chromosome inactivation analysis in two choroideremia carriers     Angela Kim, M.D.    University of Kentucky

121    Diagnosis Implies Prognosis And Dictates Work Up: The Case of Two Brothers With Nystagmus    Wadih Zein, MD    NEI/NIH

122    Unusual Fundus Lesions In NF2: The Answer    Steven M. Archer, MD    University Of Michigan

123    When One Diagnosis Leads to Another    Sarah Chorfi, MD    Mass Eye & Ear

124    A Phase IIa Trial of Metformin For Slowing The Rate Of Photoreceptor Loss In Stargardt Disease    Brian Brooks, MD, PhD    NIH/NEI

125    Do Covid Or Chloroquine Impact On An Ird?    Juliana M. Ferraz Sallum, MD    UNIFESP, São Paulo, Brazil

126    What’s in a Name? The Many Faces of PNPLA6 Disorders.    Robert Hufnagel, MD, PhD    NEI/IH

127    Sporadic Duchenne Muscular Dystrophy in North India: Photopic Electroretinogram and Colour Vision Evaluation    Zia Chaudhuri, MD    Staff LHMC & Associated Hospitals, PGIMER & Dr RML Hospital, New Delhi, India

128    Unknown Case    Sandeep Grover, MD    University of Florida

129    Decline in visual acuity and peripheral retinal changes in an 18 year-old patient three years after gene therapy for RPE65 -mediated Leber congenital amaurosis    Aliaa H. Abdelhakim, MD    Columbia University

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