101 Laryssa Huryn, MD
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

Peripheral Retinopathy in Patients with ELOVL4-related Spinocerebellar Ataxia

102 Matthew Benson, MD, MSc, FRCSC
University of Alberta

Retinal vessel tortuosity in a patient presenting to the on-call ophthalmology service with transient visual disturbance

103 Giacomo Bacci, MD, PhD
Staff
AOU Meyer Children’s Hospital, Florence, Italy

Expanding the spectrum of DYRK1A-related disease

104 Fabiana D’Esposito MD, PhD
Imperial College Ophthalmic Research Group (ICORG) Unit, Imperial College, London, UK
Eye Clinic, University of Naples “Federico II”, Italy

RP1 Dominant p.Ser740* Pathogenic Variant In 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Founder Effect in Western Sicily

105 Mark Pennesi, MD, PhD
Oregon Health Sciences University

Bones, rods and cones

106 Natario Couser, MD, PhD*
Virginia Commonwealth University School of Medicine

The Essential Role of Genetic Testing in the Phenotypic Heterogeneity of Stargardt Disease

107 Lev Prasov, MD, PhD*
University of Michigan

Ocular Findings in a Case of Schimke-Immuno-Osseous Dysplasia

108 N Anais El Salloukh, MD
Cole Eye Institute, Cleveland Clinic

Macular dystrophy or generalized IRD

109 Diana Brightman, PhD, MS, LGC* 
Cincinnati Children’s Hospital Medical Center

Bull’s Eye Maculopathy and Inconclusive Genetic Testing

110 Shaden Yassin, MD, PhD
Shiley Eye Institute, UC San Diego

Pattern of Retinal Vessel Whitening in Retinitis Pigmentosa

111 Monique Leys, MD, PhD 
West Virginia University

POMGNT1-related non-syndromic RP: Intrafamilial variability

112 Ramiro S Maldonado, MD
Duke University Eye Center

Comparing the foveal avascular zone in retinitis pigmentosa with and without cystoid macular edema

113 Randa El Mofty, MD
Cairo, Egypt

Electrophysiological changes in a case of SMVT

114 Arif O Khan, MD
Cleveland Clinic Abu Dhabi

Distinguished Special Lecture
“Inherited Eye Disease: Lessons I Have Learned on the Arabian Peninsula”

116 Tien Le, Stephanie Htun, Yihui Sun, Chung Lee, Ehsan Ullah, Brian Brooks, Rob Hufnagel, Sergio Baranzini, Anne Slavotinek, MD, PhD
Cincinnati Children’s Hospital Medical Center

Expression and phenotypes of a zebrafish crispant model of crim1 loss of function in eye development

117 Dan Chung, DO
CMO, Sparing Vision

First Interim Safety Report On Patients Receiving Rod-Derived Cone Viability Factor (RDCVF)

118 Jennifer Rossen, MD
Lurie Children’s Hospital

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts

119 Margaret Reynolds, MD
Washington University in St. Louis

Ocular Manifestations of Gain-of-Function Pathogenic Variants in CLCN6, A Newly Diagnosed Disease

120 Juliana Sallum, MD, PhD
Sao Paulo, Brazil

Case Presentation

121 Kent Small, MD
Macula & Retina Institute

North Carolina Macular Dystrophy (NCMD/MCDR1/MCDR3): Analysis of Our Entire Database: A Model Disease of Noncoding Mutations, A Culmination of 37 Years of Work

122 David Mackey, MD, PhD
Perth, Australia

How common is an incidental finding of an Leber Hereditary Optic Neuropathy mtDNA mutation?

123 Patrick Droste, MD
Pediatric Ophthalmology & Ocular Motility

Case presentation

124 Giulia Steuernagel Del Valle and Arlene Drack, MD
University of Iowa

PRPS1-related retinopathy in a female patient

125 Sandeep Grover, MD
University of Florida

Case Presentation

126 Sarah Hull, MBBS, MA, FRCOphth, PhD
University of Auckland, New Zealand

Cherry red spots

128 Anahita Sehgal, medical student and Jose Pulido, MD
Jefferson Medical College

Histologic Findings in the Eyes of Abcc6 Knockout Rat and Mouse Models of PXE

129 Rola Ba-Abbad, MD
KKESH, Saudi Arabia

The importance of scrutinizing RP1L1 variants in patients with retinitis pigmentosa: is it really recessive RP?

130 Fyqah Almahmoudi, MD
King Fahd Armed Forces Hospital Jeddah, Saudi Arabia

The ocular phenotypical manifestation related to XYLT2 gene mutation – a case presentation

131 Collin Richards, MD and Jose Pulido, MD
Wills Eye Hospital

Random Allelic Expression in Inherited Retinal Dystrophies

132 Elizabeth Kellom, MS, CGC
UW-Madison

No Soft Landing: Counseling Challenges for Newly Described Non-Syndromic Retinal Phenotypes

133 Jennifer Galvin, MD

Treatment versus observation in a child with bilateral subretinal scars: what next for this patient?

134 Angela Li, MD, Ramiro Maldonado, MD
Duke University Eye Center

Barriers to genetic testing

, MD, Ramiro Maldonado, MD