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Genetics June 2025

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

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Rola Ba-Abbad; Igor V. Peshenko; Malena Daich Varela; Siying Lin; Gavin Arno; Omar A. Mahroo; Catherine Egan; Anthony G. Robson; Elena V. Olshevskaya; Alexander M. Dizhoor; Andrew R. Webster
TAGS: alleles, night blindness, retinal cone, electroretinography, rod photoreceptors, phenotype, pathophysiology
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):22. https://doi.org/10.1167/iovs.66.6.22

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Rui Chen; Renae Elaine Bertrand; Jun Wang; Kaitlyn H. Xiong; Chinthana Thangavel; Xinye Qian; Rola Ba-Abbad; Renata Simoes; Shirley Aparecida Madureira Sampaio; Keren J. Carss; F. Lucy Raymond; Anthony G Robson; Yumei Li; Andrew R. Webster; Gavin Arno; Fernanda Belga Ottoni Porto

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1953.

ARVO Annual Meeting Abstract June 2020

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Rola Ba-Abbad; Shaun Leo; Xiaofan Jiang; Isabelle Chow; Mathura Indusegaran; Christopher Hammond; Michel Michaelides; Andrew R. Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3989.

ARVO Annual Meeting Abstract July 2019

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Gavin Arno; Jamie Ellingford; Fabiana Louise Motta; Kathryn Oprych; Rola Ba-Abbad; Omar Abdul Rahman Mahroo; Anthony Moore; Graeme Black; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1755.

ARVO Annual Meeting Abstract July 2019

Awareness of olfactory impairment in a cohort of patients with CNGB1 -associated retinitis pigmentosa

Farid Afshar; Gavin Arno; Rola Ba-Abbad; Simona Degli Esposti; Michel Michaelides; Andrew Webster; Omar Mahroo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5423.

ARVO Annual Meeting Abstract July 2019

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Rola Ba-Abbad; Gavin Arno; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew Webster; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5950.

ARVO Annual Meeting Abstract July 2019

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Omar Abdul Rahman Mahroo; NIKOLAS PONTIKOS; Gavin Arno; Rola Ba-Abbad; Samantha Malka; Genevieve Wright; Monica Armengol; Menachem Katz; Anthony Moore; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):401.

Genetics October 2018

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

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Rola Ba-Abbad; Monique Leys; Xinjing Wang; Christina Chakarova; Naushin Waseem; Keren J. Carss; F. Lucy Raymond; Kinga M. Bujakowska; Eric A. Pierce; Omar A. Mahroo; Moin D. Mohamed; Graham E. Holder; Marybeth Hummel; Gavin Arno; Andrew R. Webster
TAGS: alleles, genes, retinal diseases, signs and symptoms, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4812-4820. https://doi.org/10.1167/iovs.18-25061

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Dysplasia and degeneration in NR2E3 retinopathy: an imaging study

Rola Ba-Abbad; Ajoy Vincent; Adam M Dubis; Katelyn MacNeill; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3224.

ARVO Annual Meeting Abstract September 2016

Characterisation of temporal vision in congenital stationary night blindness

Rola Ba-Abbad; Andrew Webster; Anthony T Moore; Michel Michaelides; Bart Peter Leroy; Andrew Stockman

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

OSA Fall Vision Meeting Abstract February 2016

Multimodal Imaging of the Tapetal-like Reflex in Carriers of RPGR-associated Retinopathy

Adam M Dubis; Rola Ba-Abbad; Jonathan Aboshiha; Alfredo Dubra; Andrew Webster; Joseph Carroll; Michel Michaelides

Journal of Vision. 2016; 16(4):15-16. https://doi.org/10.1167/16.4.6

ARVO Annual Meeting Abstract June 2015

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

Rola Ba-Abbad; Panagiotis Sergouniotis; Anthony T Moore; Michel Michaelides; Graeme C.M. Black; Simon C. Ramsden; Anthony G Robson; Graham E Holder; Vincent Plagnol; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2896.

ARVO Annual Meeting Abstract April 2014

High-Resolution Imaging To Probe Retinal Integrity In RPGR Associated Rod-Cone Dystrophy

Simona Degli Esposti; Rola Ba-Abbad; Adam Pack; Jonathan Aboshiha; Yusufu N B Sulai; Alfredo Dubra; Andrew Webster; Adam M Dubis; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):254.

ARVO Annual Meeting Abstract April 2014

Imaging Photoreceptor Structure in Subjects with R9AP- and RGS9-associated Retinal Dysfunction (Bradyopsia)

Sidath E Liyanage; Robert F Cooper; Rola Ba-Abbad; Yusufu N B Sulai; Alfredo Dubra; Adam M Dubis; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):259.

ARVO Annual Meeting Abstract April 2014

Outer Retinal Changes Associated with the RPGR Carrier Phenotype: Insights from high-resolution imaging

Rola Ba-Abbad; Adam Pack; Jonathan Aboshiha; Yusufu N B Sulai; Alfredo Dubra; Andrew Webster; Anthony T Moore; Adam Dubis; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):274.

ARVO Annual Meeting Abstract June 2013

PRPH2 Mutations as a Cause of Electronegative ERG

Rola Ba-Abbad; Anthony Robson; Anthony Moore; Andrew Webster; Yew Chong Yap; Graham Holder

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):5109.

ARVO Annual Meeting Abstract June 2013

Dark-adapted Microperimetry In Age-related Maculopathy And Geographic Atrophy

Michael Crossland; Rola Ba-Abbad; Simona Degli Esposti; Adnan Tufail; Gary Rubin

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):5032.

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Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Awareness of olfactory impairment in a cohort of patients with CNGB1 -associated retinitis pigmentosa

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Dysplasia and degeneration in NR2E3 retinopathy: an imaging study

Characterisation of temporal vision in congenital stationary night blindness

Multimodal Imaging of the Tapetal-like Reflex in Carriers of RPGR-associated Retinopathy

The distinct clinical features of adult-onset retinal dystrophy associated with carboxyl mutations in the RPGR-ORF15 gene

High-Resolution Imaging To Probe Retinal Integrity In RPGR Associated Rod-Cone Dystrophy

Imaging Photoreceptor Structure in Subjects with R9AP- and RGS9-associated Retinal Dysfunction (Bradyopsia)

Outer Retinal Changes Associated with the RPGR Carrier Phenotype: Insights from high-resolution imaging

PRPH2 Mutations as a Cause of Electronegative ERG

Dark-adapted Microperimetry In Age-related Maculopathy And Geographic Atrophy

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