Publications by authors named "Omar Mahroo"

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NOVEL METHOD OF DETECTION OF BIREFRINGENT OCULAR AMYLOIDOSIS DEPOSITS USING MONOCHROMATIC WAVELENGTHS OF SCANNING LASER OPHTHALMOSCOPY.
Sidra Zafar, Ari August, Siying Lin, Luis Acaba-Berrocal, Flavius Beca, Omar A Mahroo

Retina· January 2026

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SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.
Juan C Romo-Aguas, Yannik Laich, Angelos Kalitzeos, Thales A C de Guimarāes, Anthony G Robson, Omar A Mahroo

Am J Ophthalmol· December 2025

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A novel missense variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Lauren Y Cao, Anna Duemler, Emily H Jung, Ramiro S Maldonado, Sarah Richards, Omar A Mahroo

Ophthalmic Genet· December 2025

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Identification of blood-derived DNA methylation biomarkers of glaucoma and intraocular pressure measurements in three European ancestry cohorts including the Canadian longitudinal study on aging.
Xiaofan Jiang, Omar A Mahroo, Anthony P Khawaja, Dorota Skowronska-Krawczyk, David A Mackey

Epigenetics· December 2025

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A New Gene for Congenital Stationary Night Blindness.
Omar A Mahroo, Shigeru Sato, Siying Lin

JAMA Ophthalmol· December 2025

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Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.
Linda M Reis, James Bellingham, Fabiana Louise Motta, Neringa Jurkute, Salmo Raskin, Omar A Mahroo

Invest Ophthalmol Vis Sci· November 2025

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Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.
Nancy Aychoua, Thales A C de Guimarães, Manav B Ponnekanti, Sajin Sasidharan, Sum-Ping Leung, Omar A Mahroo

JAMA Ophthalmol· November 2025

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Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.
Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, Bhavna Tailor, Catherine Hollyhead, Omar A Mahroo

Br J Ophthalmol· October 2025

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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, Fadi Nasser, Michael J Gale, Omar A Mahroo

Am J Ophthalmol· October 2025

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Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Callum Hunt, Ha-Jun Yoon, Alvin Lirio, Kayesha Coley, Jun Wang, Omar A Mahroo

Invest Ophthalmol Vis Sci· September 2025

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Selective Impairment of Rod-Driven Vision in Vitamin A Deficiency: Insights From Examining the Effect of Desensitizing Backgrounds.
Megan Margetts, Remi Rufus-Toye, Xiaofan Jiang, Shaun M Leo, Isabelle Chow, Omar A Mahroo

Invest Ophthalmol Vis Sci· September 2025

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syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.
Siying Lin, Eleanor Hay, Dorothy A Thompson, Mariya Moosajee, Andrew R Webster, Omar A Mahroo

Ophthalmic Genet· August 2025

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Recognizing Variants Prevalent in Particular Ancestries.
Omar A Mahroo, Siying Lin, Andrew R Webster

JAMA Ophthalmol· August 2025

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Some current issues in certification of vision impairment.
Omar A Mahroo, Gwyn S Williams, Cathie Burke, Abraham Olvera-Barrios, Antra Zekite

Eye (Lond)· August 2025

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Expansion of The ABCA4-Associated Retinopathy Spectrum: Might Vitamin A Supplementation Have Contributed to a More Severe Phenotype?
Omar A Mahroo

Invest Ophthalmol Vis Sci· August 2025

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Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.
Mark J Hughes, Tina Lamey, Elena R Schiff, Siying Lin, Terri Mclaren, Omar A Mahroo

Invest Ophthalmol Vis Sci· August 2025

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A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.
Wendy M Wong, Anthony G Robson, Rebecca A Baker, Gavin Arno, Joseph Van Aerschot, Omar A Mahroo

Invest Ophthalmol Vis Sci· July 2025

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Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Mital Shah, Omar A Mahroo

medRxiv· July 2025

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RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Malena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, Kalliopi Ziaka, Monica Aguila, Omar A Mahroo

Invest Ophthalmol Vis Sci· July 2025

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Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.
Rola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, Siying Lin, Gavin Arno, Omar A Mahroo

Invest Ophthalmol Vis Sci· June 2025

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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Nikolas Pontikos, William A Woof, Siying Lin, Biraja Ghoshal, Bernardo S Mendes, Omar A Mahroo

Nat Mach Intell· June 2025

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Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.
Gunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, Thales A C de Guimaraes, Sagnik Sen, Omar A Mahroo

Ophthalmol Sci· June 2025

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Discrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity.
Haseeb N Akhtar, Chun Fung Jeffrey Lam, Siying Lin, Gavin Arno, Jose S Pulido, Omar A Mahroo

Transl Vis Sci Technol· May 2025

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Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
Ryan E Schmidt, Amy E Pohodich, David Birch, Kaylie Jones, Byron L Lam, Omar A Mahroo

NPJ Genom Med· April 2025

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Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.
Juan C Romo-Aguas, Thales A C de Guimarães, Angelos Kalitzeos, Nancy Aychoua, Chrysanthi Tsika, Omar A Mahroo

Invest Ophthalmol Vis Sci· April 2025

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