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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

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:

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:

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

Retina April 2020

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy

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Ruben Jauregui; Ahra Cho; Winston Lee; Jana Zernant; Rando Allikmets; Janet R. Sparrow; Stephen H. Tsang
TAGS: abca4 gene, atrophy, chief complaint, impairment, macular disorders, retinal pigment epithelium atrophy, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):13. doi: https://doi.org/10.1167/iovs.61.4.13

Includes: Supplemental Content

Perspective February 2020

Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations

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Ian M. MacDonald; Christopher Moen; Jacque L. Duncan; Stephen H. Tsang; Jasmina Cehajic-Kapetanovic; Tomas S. Aleman
TAGS: choroideremia, gene therapy, retinal degeneration, spatial vectors
Trans. Vis. Sci. Tech.. 2020; 9(3):17. doi: https://doi.org/10.1167/tvst.9.3.17

Retina September 2019

Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers

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Maarjaliis Paavo; Jose R. L. Carvalho, Jr; Winston Lee; Jesse D. Sengillo; Stephen H. Tsang; Janet R. Sparrow
TAGS: choroideremia, eye, fundus autofluorescence imaging, multimodal imaging, proband, spectral domain-optical coherence tomography, diagnostic imaging, visual acuity, choroid, retina
Invest. Ophthalmol. Vis. Sci.. 2019; 60(12):3752-3761. doi: https://doi.org/10.1167/iovs.19-27366

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Mice with RPE-specific CLIC4 deficiency exhibit AMD-like changes in the retina-RPE-choroid complex

Wataru Otsu; Kuo-Shun Hsu; Joshua L Dunaief; Yao Li; Stephen H. Tsang; Jen-Zen Chuang; Ching-Hwa Sung

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1229. doi:

ARVO Annual Meeting Abstract July 2019

THE USE OF ARTIFICIAL INTELLIGENCE FOR THE DETECTION OF STARGARDT’S DISEASE FROM FUNDUS IMAGES

Saad Y Al-Kadhi; Loai Skouti; April Ellis; Qun Zeng; Tarun Sharma; Stephen H Tsang; Tongalp H Tezel

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1501. doi:

ARVO Annual Meeting Abstract July 2019

LACK OF VERTICAL STABILITY RESULTS IN EPITELIal-MESENCHYMAL TRANSITION OF THE IPS-DERIVED RETINAL PIGMENT EPITHELIAL CELL

Qun Zeng; Yao Li; Eyup Karahan; Stephen H Tsang; Tongalp H Tezel

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3935. 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

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

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 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

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy

Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations

Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers

Mice with RPE-specific CLIC4 deficiency exhibit AMD-like changes in the retina-RPE-choroid complex

THE USE OF ARTIFICIAL INTELLIGENCE FOR THE DETECTION OF STARGARDT’S DISEASE FROM FUNDUS IMAGES

LACK OF VERTICAL STABILITY RESULTS IN EPITELIal-MESENCHYMAL TRANSITION OF THE IPS-DERIVED RETINAL PIGMENT EPITHELIAL CELL

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