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ARVO Annual Meeting Abstract June 2024

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

Prevalence of Charles Bonnet Syndrome(CBS) in patients with vitreoretinal and inherited retinal disease

Mayuresh Naik; Yasmin Bakr; Ariel Yuhan Ong; Betina Ip; Susan M Downes; Peter Charbel Issa; Sher Aslam; Jasleen K Jolly

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1827.

ARVO Annual Meeting Abstract June 2024

Perceived disease burden and attitudes regarding clinical research in patients with Pseudoxanthoma elasticum

Johannes Birtel; Iris M Harmsen; Kristina Pfau; Philipp Herrmann; Jeannette Ossewaarde-van Norel; Redmer van Leeuwen; Wilko Spiering; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3092.

ARVO Annual Meeting Abstract June 2024

Pro Re Nata versus treat-and-extend anti-VEGF dosing strategies for the treatment of macular oedema in retinal vein occlusion: 12-month outcomes

Vasil Kostin; Martin Horak; Wiktoria Zamirska; Yasmin Bakr; M Dominik Fischer; Peter Charbel Issa; Christine Kiire; Niamh Stone; Samantha R De Silva

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6303.

Retina September 2023

Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia

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Federica E. Poli; Imran H. Yusuf; Jasleen K. Jolly; Laura J. Taylor; Daniel Adeyoju; Amandeep S. Josan; Johannes Birtel; Peter Charbel Issa; Jasmina Cehajic-Kapetanovic; Lyndon Da Cruz; Robert E. MacLaren
TAGS: choroideremia, fundus autofluorescence imaging, mottling
Trans. Vis. Sci. Tech.. 2023; 12(9):24. https://doi.org/10.1167/tvst.12.9.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

IMPG2 -related maculopathy

Johannes Birtel; Richard Caswell; Samantha R De Silva; Philipp Herrmann; Salwah Rehman; Andrew J Lotery; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew R Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4643.

ARVO Annual Meeting Abstract June 2023

Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function

Soma Farag; Imran H Yusuf; Maria Kaukonen; Laura J Taylor; Peter Charbel Issa; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4505.

ARVO Annual Meeting Abstract June 2023

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

ARVO Annual Meeting Abstract June 2023

Red-excitation fundus autofluorescence imaging in age-related macular degeneration

Peter Charbel Issa; Maximilian Hammer; Martin Gliem; Johannes Birtel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2152.

ARVO Annual Meeting Abstract June 2022

Impaired glutamylation of ORF15 presents a unique phenotype in RPGR-related retinal dystrophy

Jasmina Cehajic Kapetanovic; Cristina Martinez-Fernandez de la Camara; Johannes Birtel; Salwah Rehman; Michelle E. McClements; Peter Charbel Issa; Andrew J Lotery; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):137 – A0317.

ARVO Annual Meeting Abstract June 2022

Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations ( RPE65 -IRD) in Europe. Results of a 2-year follow-up multinational survey by the European Vision Institute Clinical Research Network (EVICR.net) and the European Reference Network for Rare Eye Diseases (ERN-EYE)

Birgit Lorenz; Joana Tavares; Ingeborgh van den Born; João Pedro Marques; Katarina Stingl; Elisabetta Pilotto; Peter Charbel Issa; Dorothee Leroux; Helene Dollfus; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4488 – F0275.

ARVO Annual Meeting Abstract June 2022

Phenotypic appearances in a large ethnically diverse cohort of 178 patients with ABCA4 retinopathy

Saoud Al-khuzaei; Mital Shah; Suzanne Broadgate; Jing Yu; Charlotte R Foster; Jasleen Kaur Jolly; Morag Shanks; Robert E MacLaren; Peter Charbel Issa; Penny Clouston; Stephanie Halford; Susan M. Downes

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):616 – A0331.

ARVO Annual Meeting Abstract June 2022

The retinal phenotype in primary hyperoxaluria type 2 and 3

Johannes Birtel; Roselie M.H. Diederen; Philipp Herrmann; Sander F. Garrelfs; Bernd Hoppe; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):614 – A0329.

ARVO Annual Meeting Abstract June 2022

Preliminary Results from a First-in-human Phase I/II Gene Therapy Study (FOCUS) of Subretinally Delivered GT005, an Investigational AAV2 Vector, in Patients with Geographic Atrophy Secondary to Age-related Macular Degeneration

Jared Nielsen; Robert E MacLaren; Jeffrey S Heier; David Steel; Tsveta Ivanova; Sobha Sivaprasad; Paulo Stanga; Clare Bailey; Peter Charbel Issa; Luisa Mendonca; James Francis; Darin Curtiss; Jane Hughes; Nadia K Waheed

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1504.

ARVO Annual Meeting Abstract June 2022

Retinal expression profile of SpCas9 and EGFP in the CRISPR-Cas9 knockin mouse, NOD.129(Cg)-Gt(ROSA)26Sor tm1.1(CAG-cas9*,-EGFP)Fezh /J

Ruofan Connie Han; Michelle E. McClements; Peter Charbel Issa; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3166 – F0440.

ARVO Annual Meeting Abstract June 2022

Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE

Joana Tavares; Birgit Lorenz; Ingeborgh van den Born; João Pedro Marques; Katarina Stingl; Elisabetta Pilotto; Peter Charbel Issa; Dorothee Leroux; Helene Dollfus; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4481 – F0268.

ARVO Annual Meeting Abstract June 2022

Gene therapy rescues photoreceptor function, morphology and survival in a pre-clinical model of CDHR1 -associated retinal degeneration

Imran H Yusuf; Michelle E. McClements; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1112.

ARVO Annual Meeting Abstract June 2021

Postreceptor Neuronal Degeneration in Pseudoxanthoma Elasticum

Kristina Hess; Kristin Raming; Peter Charbel Issa; Philipp Herrmann; Frank G Holz; Maximilian Pfau

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2181.

ARVO Annual Meeting Abstract June 2021

Occult retinopathy in patients with severe kidney disease: NPHP1 -associated ciliopathy

Johannes Birtel; Georg Spital; Marius Book; Sandra Habbig; Sören Bäumner; Vera Riehmer; Bodo B. Beck; David Rosenkranz; Hanno J. Bolz; Mareike Dahmer-Heath; Philipp Herrmann; Jens König; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3235.

ARVO Annual Meeting Abstract June 2021

Genotype-phenotype correlation of novel variants in ABCA4

Saoud Al-khuzaei; Charlotte Foster; Suzanne Broadgate; Mital shah; Morag Shanks; Robert E MacLaren; Peter Charbel Issa; Penny Clouston; Stephanie Halford; Susan M Downes

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1545.

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CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Prevalence of Charles Bonnet Syndrome(CBS) in patients with vitreoretinal and inherited retinal disease

Perceived disease burden and attitudes regarding clinical research in patients with Pseudoxanthoma elasticum

Pro Re Nata versus treat-and-extend anti-VEGF dosing strategies for the treatment of macular oedema in retinal vein occlusion: 12-month outcomes

Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia

IMPG2 -related maculopathy

Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Red-excitation fundus autofluorescence imaging in age-related macular degeneration

Impaired glutamylation of ORF15 presents a unique phenotype in RPGR-related retinal dystrophy

Phenotypic appearances in a large ethnically diverse cohort of 178 patients with ABCA4 retinopathy

The retinal phenotype in primary hyperoxaluria type 2 and 3

Preliminary Results from a First-in-human Phase I/II Gene Therapy Study (FOCUS) of Subretinally Delivered GT005, an Investigational AAV2 Vector, in Patients with Geographic Atrophy Secondary to Age-related Macular Degeneration

Retinal expression profile of SpCas9 and EGFP in the CRISPR-Cas9 knockin mouse, NOD.129(Cg)-Gt(ROSA)26Sor tm1.1(CAG-cas9*,-EGFP)Fezh /J

Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by EVICR.net and ERN-EYE

Gene therapy rescues photoreceptor function, morphology and survival in a pre-clinical model of CDHR1 -associated retinal degeneration

Postreceptor Neuronal Degeneration in Pseudoxanthoma Elasticum

Occult retinopathy in patients with severe kidney disease: NPHP1 -associated ciliopathy

Genotype-phenotype correlation of novel variants in ABCA4

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