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Genetics February 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

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Kari Branham; Lassana Samarakoon; Isabelle Audo; Allison R. Ayala; Janet K. Cheetham; Stephen P. Daiger; Patty Dhooge; Jacque L. Duncan; Todd A. Durham; Abigail T. Fahim; Rachel M. Huckfeldt; Robert B. Hufnagel; Susanne Kohl; Ramiro S. Maldonado; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Juliana M. Ferraz Sallum; Mandeep S. Singh; Dror Sharon; Kimberly Stepien; Kaylie Jones; Christina Y. Weng; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: blindness, genes, genetics, retinal diseases, social survey
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):12. https://doi.org/10.1167/iovs.66.2.12

Includes: Supplemental Content

Genetics February 2025

Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

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Fulya Yaylacıoğlu Tuncay; Melissa J. Reeves; Sairah Yousaf; Ehsan Ullah; Bin Guan; Kerry E. Goetz; Santa J. Tumminia; Robert B. Hufnagel
TAGS: cohort studies, familial exudative vitreoretinopathies, genes, genotype, phenotype, signal pathway, signal transduction pathways, proteins
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):9. https://doi.org/10.1167/iovs.66.2.9

Includes: Supplemental Content

Public Health September 2024

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

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Agnes C. Owete; Raisa Ionin; Laryssa A. Huryn; Catherine A. Cukras; Delphine Blain; Aime R. Agather; Robert B. Hufnagel; Brian P. Brooks; Kristen Nwanyanwu; Wadih M. Zein
TAGS: african american, color, eye diseases, hereditary
Trans. Vis. Sci. Tech.. 2024; 13(9):4. https://doi.org/10.1167/tvst.13.9.4

ARVO Annual Meeting Abstract June 2024

ClinGen Ocular Domain Working Group standards for disease nomenclature and variant classification

Robert B Hufnagel; Kristy Lee; Emily Place; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):451.

ARVO Annual Meeting Abstract June 2024

Geckos as a new model system to understand fovea-genesis

Andrew Edward Wegerski; Chelsey Grasham; Kira Yates; Maya Johnson; Aaron H Griffing; Brian P Brooks; Ashley M Rasys; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):388.

ARVO Annual Meeting Abstract June 2024

Highlighting the Supernormal Intensity Response of the photopic ERG a-wave in Enhanced S-cone Syndrome (ESCS)

Kati Veres; Ioannis Dimopoulos; Delphine Blain; Bin Guan; Ehsan Ullah; Robert B Hufnagel; Wei Li; Marisa P Boyle; Laryssa Huryn; Brian Patrick Brooks; Catherine A Cukras; Brett Jeffrey; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1532.

ARVO Annual Meeting Abstract June 2024

Harmonization of variants in the eyeGENE ® cohort for data sharing

Ranya Al Rawi; Kerry E. Goetz; Melissa Reeves; Amelia Naik; Nia Moore; Robert B Hufnagel; Bin Guan; Santa J. Tumminia

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2419.

ARVO Annual Meeting Abstract June 2024

An RPE subpopulation is resistant to oxidative-induced inflammation through SERPINE3-Caspase1 pathway

Huirong Li; Wei Yan; David McGaughey; Temesgen D Fufa; Lijin Dong; Tiansen Li; Suja Hiriyanna; Bin Guan; Koray Dogan Kaya; Ashley M Rasys; James Liu; Takerra Johnson; Jiwon Ryu; Brian P Brooks; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2184.

ARVO Annual Meeting Abstract June 2024

Nested PCR as an economical and robust approach for detecting aberrant splicing events in clinically accessible tissues

Amelia Naik; Ehsan Ullah; Chelsea Bender; Ranya Al Rawi; Koray Dogan Kaya; David McGaughey; Aime Agather; Delphine Blain; Brian Patrick Brooks; Catherine A Cukras; Laryssa Huryn; Kerry E Goetz; Robert B Hufnagel; Bin Guan

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4696.

ARVO Annual Meeting Abstract June 2024

A Common Pathogenic Variant Atlas for Inherited Retinal Diseases to Minimize False Negatives in Molecular Diagnosis

Ehsan Ullah; Robert B Hufnagel; Bin Guan

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4656.

ARVO Annual Meeting Abstract June 2024

Structural and function characteristics of vitelliform macular dystrophy in a pediatric cohort

Andreanna Vy-Anh Le; Malena Daich Varela; Geoffrey Broadhead; Wadih M Zein; Ehsan Ullah; Moriah Edwards; Robert B Hufnagel; Emily Y Chew; Brian Patrick Brooks; Catherine A Cukras; Laryssa Huryn

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6030.

Genetics March 2024

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

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Bhavana Kunisetty; Bailey A. Martin-Giacalone; Xiaonan Zhao; Pamela N. Luna; Brian P. Brooks; Robert B. Hufnagel; Chad A. Shaw; Jill A. Rosenfeld; A. J. Agopian; Philip J. Lupo; Daryl A. Scott
TAGS: cauda equina syndrome, cesium, complement membrane attack complex, genes, mac protocol, macao, mdc protocol, microphthalmos, mid upper arm circumference, minimum alveolar concentration
Invest. Ophthalmol. Vis. Sci.. 2024; 65(3):25. https://doi.org/10.1167/iovs.65.3.25

Includes: Supplemental Content

Genetics September 2023

RPGR : Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

PDF

Matthew D. Benson; Souvick Mukherjee; Aime R. Agather; Delphine Blain; Denise Cunningham; Robert Mays; Xun Sun; Tiansen Li; Robert B. Hufnagel; Brian P. Brooks; Laryssa A. Huryn; Wadih M. Zein; Catherine A. Cukras
TAGS: phenotype determination, retinal diseases, genetics, dark adaptation, diagnostic imaging, cohort studies, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):19. https://doi.org/10.1167/iovs.64.12.19

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Digital droplet PCR enables genotyping the red-green opsin array for clinical diagnostics

Amelia Naik; Bin Guan; Deena Elul; Edda Haggerty; Wadih M Zein; Cara Lwin; Zhiyu Li; Delphine Blain; Brian Patrick Brooks; Santa J Tumminia; David H Brainard; Geoffrey K Aguirre; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4534.

ARVO Annual Meeting Abstract June 2023

A precision genomics approach to validating NOLC1 as the cause of a unique nanophthalmos-microcephaly syndrome

Sairah Yousaf; Blake Carrington; Zhiyu Li; Mones Abu-Asab; Laryssa Huryn; Raman Sood; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4525.

ARVO Annual Meeting Abstract June 2023

Evaluating the clinical validity of the gene:disease relationship in inherited retinal disorders

Laryssa Huryn; William Hankey; Jennifer Goldstein; Panagiotis Sergouniotis; Kristy Lee; Gavin Arno; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4502.

ARVO Annual Meeting Abstract June 2023

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

James Liu; Yi He; Chisom Madu; Lijin Dong; Marina Han; Cara Lwin; Gavin Arno; Anthony Moore; Andrew R Webster; Michel Michaelides; Laryssa Huryn; Bin Guan; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):578.

ARVO Annual Meeting Abstract June 2023

Multiomic mapping of RPE development resolves lineage branch points and identifies disease loci

Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1281.

ARVO Annual Meeting Abstract June 2023

Evaluation of Cone Photoreceptors in Waardenburg Syndrome Type 2A Using Adaptive Optics

Nancy Aguilera; Tao Liu; Joseph Carroll; Brian Patrick Brooks; Robert B. Hufnagel; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1050.

ARVO Annual Meeting Abstract June 2023

SERPINE3 is an RPE-specific protease inhibitor critical for retinal function

Huirong Li; Jimmy Liu; Takerra Johnson; Lijin Dong; David McGaughey; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2998.

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Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

ClinGen Ocular Domain Working Group standards for disease nomenclature and variant classification

Geckos as a new model system to understand fovea-genesis

Highlighting the Supernormal Intensity Response of the photopic ERG a-wave in Enhanced S-cone Syndrome (ESCS)

Harmonization of variants in the eyeGENE ® cohort for data sharing

An RPE subpopulation is resistant to oxidative-induced inflammation through SERPINE3-Caspase1 pathway

Nested PCR as an economical and robust approach for detecting aberrant splicing events in clinically accessible tissues

A Common Pathogenic Variant Atlas for Inherited Retinal Diseases to Minimize False Negatives in Molecular Diagnosis

Structural and function characteristics of vitelliform macular dystrophy in a pediatric cohort

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

RPGR : Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Digital droplet PCR enables genotyping the red-green opsin array for clinical diagnostics

A precision genomics approach to validating NOLC1 as the cause of a unique nanophthalmos-microcephaly syndrome

Evaluating the clinical validity of the gene:disease relationship in inherited retinal disorders

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

Multiomic mapping of RPE development resolves lineage branch points and identifies disease loci

Evaluation of Cone Photoreceptors in Waardenburg Syndrome Type 2A Using Adaptive Optics

SERPINE3 is an RPE-specific protease inhibitor critical for retinal function

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