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ARVO Annual Meeting Abstract June 2022

Isolation of retinal ganglion cells for single cell transcriptomics in a model of dominant optic atrophy

Michael James Gilhooley; Nicholas Owen; Mariya Moosajee; Patrick Yu-Wai-Man

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1212 – A0212. doi:

ARVO Annual Meeting Abstract June 2022

Adult-onset rhodopsin mislocalisation and enlarged phagosomes in rdh12 mutant zebrafish model.

Hajrah Sarkar; Maria Toms; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1941 – F0359. doi:

ARVO Annual Meeting Abstract June 2022

Shared morphological and molecular pathways in microphthalmia using patient-derived iPSC-optic vesicles

Jonathan Eintracht; Philippa Harding; Nicholas Owen; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2441 – F0385. doi:

ARVO Annual Meeting Abstract June 2022

Prevalence of Charles Bonnet syndrome among UK visually impaired military veterans and associated impact of visual hallucinations during the COVID-19 pandemic

Lee Jones; Matthew Lee; Renata Gomes; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2659. doi:

ARVO Annual Meeting Abstract June 2022

BMPR1B identified as a novel human ocular coloboma gene through cross-species meta-analysis

Nicholas Owen; Maria Toms; Rodrigo M Young; Jonathan Eintracht; Hajrah Sarkar; . Genomics England Research Consortium; Brian Brooks; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2625. doi:

ARVO Annual Meeting Abstract June 2022

Structure/Function Correlations in USH2A - associated Usher Syndrome

Adam M Dubis; Ahmed M Hagag; Mustafa Arikan; Yen Ning Mau; Nawara Behzad; Watjana Lilaonitkul; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2576 – F0459. doi:

ARVO Annual Meeting Abstract June 2022

Use of non-viral episomal vectors as a large gene augmentation strategy for USH2A retinopathy

Maria Toms; Lyes Toualbi; Patrick Almeida; Richard Harbottle; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3473. doi:

ARVO Annual Meeting Abstract June 2022

Using non-viral S/MAR DNA vectors to restore protein expression in models of choroideremia

Lyes Toualbi; Maria Toms; Patrick Almeida; Richard Harbottle; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3165 – F0439. doi:

ARVO Annual Meeting Abstract June 2021

Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

Samantha Malka; Elena Schiff; Hannah Knight; Genevieve Wright; Ainoa Cordoba Gimenez; Michel Michaelides; Patrick Yu-Wai-Man; Omar Abdul Rahman Mahroo; Gavin Arno; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1556. doi:

ARVO Annual Meeting Abstract June 2021

CRISPR base editing as a potential therapeutic approach for Kir7.1 channelopathy

Meha Kabra; Pawan K Shahi; ALLISON SPILLANE; Yuyuan Wang; Divya Sinha; Gregory A Newby; Shivani Saxena; Krishanu Saha; Mariya Moosajee; David Gamm; David R. Liu; Shaoqin Gong; Bikash R Pattnaik

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1483. doi:

ARVO Annual Meeting Abstract June 2020

Assessing Residual Photoreceptor Morphology in Choroideremia

Adam M Dubis; Jasleen Kaur Jolly; Lyndon daCruz; Mariya Moosajee; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):819. doi:

ARVO Annual Meeting Abstract June 2020

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Simona Degli Esposti; Mohamed Rashad; Matt Robertson; Vivi Riga; Navjit Singh; Mariya Moosajee; Michel Michaelides; Andrew R. Webster; Omar A Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5304. doi:

ARVO Annual Meeting Abstract July 2019

Non-penetrance in a family with PAX6 -related autosomal dominant nystagmus

Vijay Tailor; Christopher Way; Nicholas Owen; Maria Theodorou; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):413. doi:

ARVO Annual Meeting Abstract July 2019

Variable nonsense mediated decay in choroideremia patients points to a prognostic indicator for nonsense suppression therapy

Mariya Moosajee; Andreas Mitsios; Vasiliki Kalatzis; Peter J Coffey; Adam M Dubis; Andrew Webster; Hajrah Sarkar

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3249. doi:

ARVO Annual Meeting Abstract July 2019

Assessing relationship between vascular integrity and macular sensitivity in patients with Usher Syndrome

Ahmed M Hagag; Andreas Mitsios; Jasdeep Gill; Alessandro Abbouda; Vasilios Theofylaktopoulos; Joan Nunez Do Rio; Sarah Houston; Adam M Dubis; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5171. doi:

ARVO Annual Meeting Abstract July 2019

Longitudinal phenotypic comparison of syndromic and non-syndromic RP in USH2A -associated retinopathy

Adam M Dubis; Yun Lin Ang; Andreas Mitsios; Jasdeep Gill; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5172. doi:

Genetics July 2019

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

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Kristyna Brejchova; Lubica Dudakova; Pavlina Skalicka; Robert Dobrovolny; Petr Masek; Martina Putzova; Mariya Moosajee; Stephen J. Tuft; Alice E. Davidson; Petra Liskova
TAGS: biological models, cornea, endothelium, heterogeneous nuclear rna, rna splicing, proband, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3084-3090. doi: https://doi.org/10.1167/iovs.19-26930

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

Adam M Dubis; Andreas Mitsios; Maria Toms; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1564. doi:

ARVO Annual Meeting Abstract July 2018

Whole metabolomic profiling determines systemic dysfunction in Choroideremia

Mariya Moosajee; Rose Richardson; Andreas Mitsios; Alessandro Abbouda; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4492. doi:

ARVO Annual Meeting Abstract July 2018

Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

Maria Toms; Matthew Hayes; Andrew Webster; Mariya Moosajee

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4968. doi:

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Isolation of retinal ganglion cells for single cell transcriptomics in a model of dominant optic atrophy

Adult-onset rhodopsin mislocalisation and enlarged phagosomes in rdh12 mutant zebrafish model.

Shared morphological and molecular pathways in microphthalmia using patient-derived iPSC-optic vesicles

Prevalence of Charles Bonnet syndrome among UK visually impaired military veterans and associated impact of visual hallucinations during the COVID-19 pandemic

BMPR1B identified as a novel human ocular coloboma gene through cross-species meta-analysis

Structure/Function Correlations in USH2A - associated Usher Syndrome

Use of non-viral episomal vectors as a large gene augmentation strategy for USH2A retinopathy

Using non-viral S/MAR DNA vectors to restore protein expression in models of choroideremia

Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

CRISPR base editing as a potential therapeutic approach for Kir7.1 channelopathy

Assessing Residual Photoreceptor Morphology in Choroideremia

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Non-penetrance in a family with PAX6 -related autosomal dominant nystagmus

Variable nonsense mediated decay in choroideremia patients points to a prognostic indicator for nonsense suppression therapy

Assessing relationship between vascular integrity and macular sensitivity in patients with Usher Syndrome

Longitudinal phenotypic comparison of syndromic and non-syndromic RP in USH2A -associated retinopathy

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Longitudinal phenotypic characterization of type II Usher syndrome caused by mutations in USH2A

Whole metabolomic profiling determines systemic dysfunction in Choroideremia

Loss of ush2a causes rhodopsin mislocalisation and adult onset photoreceptor degeneration in a zebrafish model of Usher syndrome

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