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ARVO Annual Meeting Abstract June 2022

A common haplotype in the PRPH2 gene modifies Stargardt/ABCA4 disease.

Jana Zernant; Winston Lee; Jun Wang; KERRY GOETZ; Ehsan Ullah; Takayuki Nagasaki; PEI-YIN SU; Gerald A Fishman; Stephen H Tsang; Santa J Tumminia; Brian Brooks; Robert B Hufnagel; Rui Chen; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1596 – A0385. doi:

ARVO Annual Meeting Abstract June 2022

Vitelliform foveomacular lesions in ABCA4 disease: A phenotypic expansion and longitudinal study

PEI-YIN SU; Winston Lee; Jana Zernant; Takayuki Nagasaki; Stephen H Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3752 – F0173. doi:

ARVO Annual Meeting Abstract June 2022

Identifying critical diagnostic features that distinguish ABCA4 disease from its Mendelian phenocopies

Winston Lee; Jana Zernant; Takayuki Nagasaki; Stephen H Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3745 – F0166. doi:

Articles January 2022

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4 -Associated Disease

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Rait Parmann; Stephen H. Tsang; Jana Zernant; Rando Allikmets; Vivienne C. Greenstein; Janet R. Sparrow
TAGS: abca4 gene, atrophy, fundus autofluorescence imaging, optical coherence tomography, spectral domain-optical coherence tomography
Trans. Vis. Sci. Tech.. 2022; 11(1):36. doi: https://doi.org/10.1167/tvst.11.1.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

SALL1 acts downstream of ONECUT1 to repress the rod photoreceptor generation

Miruna G. Ghinia-Tegla; Diego F. Buenaventura; Peter Quinn; Chisom T Madu; Dillon O Rogando; Stephen Tsang; Mark M. Emerson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2938. doi:

ARVO Annual Meeting Abstract June 2021

Clinical and Genetics Characterization of Hypomorphic Variants in Stargardt disease

Winston Lee; Jana Zernant; Takayuki Nagasaki; Gerald A Fishman; Stephen H Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2171. doi:

ARVO Annual Meeting Abstract June 2021

Characterization of Stargardt disease patient-derived human retinal organoids harboring the p.Gly1961Glu mutation in the ABCA4 gene

PEI-YIN SU; Jen-Zen Chuang; Winston Lee; Jana Zernant; Stephen H Tsang; Takayuki Nagasaki; Ching-Hwa Sung; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2595. doi:

ARVO Annual Meeting Abstract June 2021

Shared Features in Retinal Diseases with Primary Involvement of Retinal Pigment Epithelium

Rait Parmann; Ruben Jauregui; Rando Allikmets; Stanley Chang; Stephen H Tsang; Janet R Sparrow

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1904. doi:

ARVO Annual Meeting Abstract June 2021

Telegenetics for Inherited Retinal Diseases during the COVID-19 pandemic

Aarushi Kumar; Ahmad Al Moujahed; Teja Chemudupati; Stephen H. Tsang; Vinit B Mahajan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1549. doi:

ARVO Annual Meeting Abstract June 2021

Progression of Retinitis Pigmentosa Associated with Ciliary and Non-Ciliary Genetic Etiologies

Amanda Zhou; Jin Kyun Oh; Stephen H. Tsang

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1530. doi:

Perspective June 2021

Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

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Janet R. Sparrow; Rait Parmann; Stephen H. Tsang; Rando Allikmets; Stanley Chang; Ruben Jauregui
TAGS: retinal diseases, retinal pigment epithelium, spectral domain-optical coherence tomography, mutation, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):15. doi: https://doi.org/10.1167/iovs.62.7.15

Articles January 2021

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence

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Ruben Jauregui; Yan Nuzbrokh; Pei-Yin Su; Jana Zernant; Rando Allikmets; Stephen H. Tsang; Janet R. Sparrow
TAGS: autofluorescence, chorioretinal atrophy, hypertrophy, retinal pigment epithelium atrophy, stargardt's disease, atrophy, diagnostic imaging, phenotype
Trans. Vis. Sci. Tech.. 2021; 10(1):3. doi: https://doi.org/10.1167/tvst.10.1.3

Includes: Supplemental Content

Genetics October 2020

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders

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Jin Kyun Oh; Jose Ronaldo Lima de Carvalho, Jr; Yan Nuzbrokh; Joseph Ryu; Teja Chemudupati; Vinit B. Mahajan; Janet R. Sparrow; Stephen H. Tsang
TAGS: atrophy, diabetes mellitus, type 2, hearing loss, kearns-sayre syndrome, mitochondria, oxidative phosphorylation defect, spectral domain-optical coherence tomography, maternal inheritance, diabetes mellitus, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):12. doi: https://doi.org/10.1167/iovs.61.12.12

Includes: Supplemental Content

Retina September 2020

Quantitative Fundus Autofluorescence in HCQ Retinopathy

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Vivienne C. Greenstein; Jose Ronaldo Lima de Carvalho, Jr.; Rait Parmann; Luz Amaro-Quireza; Winston Lee; Donald C. Hood; Stephen H. Tsang; Janet R. Sparrow
TAGS: fundus autofluorescence imaging, retinal diseases, spectral domain-optical coherence tomography, visual fields, eye
Invest. Ophthalmol. Vis. Sci.. 2020; 61(11):41. doi: https://doi.org/10.1167/iovs.61.11.41

Articles August 2020

Spectral-Domain Optical Coherence Tomography Is More Sensitive for Hydroxychloroquine-Related Structural Abnormalities Than Short-Wavelength and Near-Infrared Autofluorescence

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Ruben Jauregui; Rait Parmann; Yan Nuzbrokh; Stephen H. Tsang; Janet R. Sparrow
TAGS: autofluorescence, diagnostic imaging, hydroxychloroquine, screening, spectral domain-optical coherence tomography, toxic effect
Trans. Vis. Sci. Tech.. 2020; 9(9):8. doi: https://doi.org/10.1167/tvst.9.9.8

ARVO Annual Meeting Abstract June 2020

Rod visual fields in comparison to the recommended functional and structural screening tests for patients treated with hydroxychloroquine

Yan Nuzbrokh; LUZ AMARO-QUIREZA; Donald C Hood; Stephen Tsang; Janet R Sparrow; David G Birch; Vivienne C. Greenstein

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1058. doi:

ARVO Annual Meeting Abstract June 2020

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Kyle Kim; Eun-Jin Lee; Wei-Chieh Chiang; Heike Kroeger; Chloe Xiaoke Bi; Daniel L Chao; Rebecca Mastey; Stephen Tsang; Leon Chea; Britta Baumann; Isabelle S Audo; Susanne Kohl; Anthony Moore; Luke Wiseman; Joseph Carroll; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2393. doi:

ARVO Annual Meeting Abstract June 2020

Short-Wavelength and Near-Infrared Autofluorescence in Deficiencies of the Visual Cycle

Jin Kyun Oh; Jose Ronaldo Lima de Carvalho; Joseph Ryu; Stephen Tsang; Sparrow Janet

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1904. doi:

ARVO Annual Meeting Abstract June 2020

Clinical Characterization of an Extremely Mild, Late-Onset Phenotype of ABCA4 Disease

PEI-YIN SU; Winston Lee; Jana Zernant; Stephen Tsang; Janet R Sparrow; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1051. doi:

ARVO Annual Meeting Abstract June 2020

Do Mutations in ABCA4 Really Cause Retinitis Pigmentosa?

Winston Lee; Jana Zernant; Stephen Tsang; Janet R Sparrow; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1052. doi:

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A common haplotype in the PRPH2 gene modifies Stargardt/ABCA4 disease.

Vitelliform foveomacular lesions in ABCA4 disease: A phenotypic expansion and longitudinal study

Identifying critical diagnostic features that distinguish ABCA4 disease from its Mendelian phenocopies

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4 -Associated Disease

SALL1 acts downstream of ONECUT1 to repress the rod photoreceptor generation

Clinical and Genetics Characterization of Hypomorphic Variants in Stargardt disease

Characterization of Stargardt disease patient-derived human retinal organoids harboring the p.Gly1961Glu mutation in the ABCA4 gene

Shared Features in Retinal Diseases with Primary Involvement of Retinal Pigment Epithelium

Telegenetics for Inherited Retinal Diseases during the COVID-19 pandemic

Progression of Retinitis Pigmentosa Associated with Ciliary and Non-Ciliary Genetic Etiologies

Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders

Quantitative Fundus Autofluorescence in HCQ Retinopathy

Spectral-Domain Optical Coherence Tomography Is More Sensitive for Hydroxychloroquine-Related Structural Abnormalities Than Short-Wavelength and Near-Infrared Autofluorescence

Rod visual fields in comparison to the recommended functional and structural screening tests for patients treated with hydroxychloroquine

Multi-Exon Deletion Alleles of ATF6 Linked to Achromatopsia

Short-Wavelength and Near-Infrared Autofluorescence in Deficiencies of the Visual Cycle

Clinical Characterization of an Extremely Mild, Late-Onset Phenotype of ABCA4 Disease

Do Mutations in ABCA4 Really Cause Retinitis Pigmentosa?

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