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Genetics June 2022

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

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Terri L. Young; Kristina N. Whisenhunt; Sarah M. LaMartina; Alex W. Hewitt; David A. Mackey; Stuart W. Tompson
TAGS: cataract, childhood, cortical cataract, introns, pediatrics, shh gene, enhancer of transcription, genes, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2022; 63(6):25. doi: https://doi.org/10.1167/iovs.63.6.25

Retina June 2022

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

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Katie M. Williams; Michalis Georgiou; Angelos Kalitzeos; Isabelle Chow; Pirro G. Hysi; Anthony G. Robson; Gareth Lingham; Fred K. Chen; David A. Mackey; Andrew R. Webster; Christopher J. Hammond; Polina Prokhoda; Joseph Carroll; Michel Michaelides; Omar A. Mahroo
TAGS: advanced life support, amyotrophic lateral sclerosis, antilymphocyte globulin, cohort studies, oculocutaneous albinism type 2, retinal diseases, albinism, abca4 gene, eye
Invest. Ophthalmol. Vis. Sci.. 2022; 63(6):15. doi: https://doi.org/10.1167/iovs.63.6.15

ARVO Annual Meeting Abstract June 2022

Change in peripapillary retinal nerve fibre layer thickness from 20 to 28 years old

Samantha Sze-Yee Lee; Alex W Hewitt; David A Mackey

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1629 – A0124. doi:

ARVO Annual Meeting Abstract June 2022

A wavelength-agnostic, deep learning algorithm segmenting the hyperautofluorescent ring in retinitis pigmentosa

Jason Charng; Ignacio Viedma; David Alonso-Caneiro; David A Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2073 – F0062. doi:

ARVO Annual Meeting Abstract June 2022

Evaluating the distribution of laterally corrected foveal avascular zone parameters.

David A Mackey; Qiang Li; Peijun Gong; Phuoc Hao Ho; Brendan F Kennedy; Fred Kuanfu Chen; Jason Charng

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2923 – F0076. doi:

ARVO Annual Meeting Abstract June 2022

Localised cone density and retinal sensitivity changes in female carriers of RPGR mutations

Danial Roshandel; Tina M. Lamey; Jason Charng; Rachael C Heath Jeffery; Terri L. McLaren; Jennifer A. Thompson; John N. De Roach; Samuel McLenachan; David A. Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4478 – F0265. doi:

ARVO Annual Meeting Abstract June 2022

Machine learning-estimated axial length is better than spherical equivalent for identifying higher-risk myopic eyes

Gareth Lingham; James Loughman; Eoin Kerin; Samantha Sze-Yee Lee; David A Mackey; Siofra Harrington; Kathryn Jill Saunders; Daniel Ian Flitcroft

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4336 – A0041. doi:

Clinical and Epidemiologic Research May 2022

Choroidal Thickening During Young Adulthood and Baseline Choroidal Thickness Predicts Refractive Error Change

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Samantha Sze-Yee Lee; David Alonso-Caneiro; Gareth Lingham; Fred K. Chen; Paul G. Sanfilippo; Seyhan Yazar; David A. Mackey
TAGS: adult, choroid, refractive errors
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):34. doi: https://doi.org/10.1167/iovs.63.5.34

Includes: Supplemental Content

Retina April 2022

Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis

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Danial Roshandel; Danuta M. Sampson; David A. Mackey; Fred K. Chen
TAGS: diagnostic imaging, mosaicism, optics, retinal cone, fovea centralis
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):12. doi: https://doi.org/10.1167/iovs.63.4.12

Includes: Supplemental Content

Glaucoma January 2022

Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?

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Nathan Ingold; Adrian I. Campos; Xikun Han; Jue-Sheng Ong; Puya Gharahkhani; David A. Mackey; Miguel E. Rentería; Matthew H. Law; Stuart MacGregor
TAGS: disease susceptibility, glaucoma, obstructive sleep apnea, sleep apnea syndromes, genetic risk
Invest. Ophthalmol. Vis. Sci.. 2022; 63(1):25. doi: https://doi.org/10.1167/iovs.63.1.25

Includes: Supplemental Content

Articles December 2021

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

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Danial Roshandel; Rachael C. Heath Jeffery; Jason Charng; Danuta M. Sampson; Samuel McLenachan; David A. Mackey; Fred K. Chen
TAGS: parafoveal region, retinal cone, retinitis pigmentosa, diagnostic imaging
Trans. Vis. Sci. Tech.. 2021; 10(14):11. doi: https://doi.org/10.1167/tvst.10.14.11

Includes: Supplemental Content

Genetics October 2021

Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

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Denis Plotnikov; Jiangtian Cui; Rosie Clark; Juho Wedenoja; Olavi Pärssinen; J. Willem L. Tideman; Jost B. Jonas; Yaxing Wang; Igor Rudan; Terri L. Young; David A. Mackey; Louise Terry; Cathy Williams; Jeremy A. Guggenheim; for the UK Biobank Eye and Vision Consortium and the CREAM Consortium
TAGS: disease susceptibility, eye, genetics, genome-wide association study, myopia, refractive errors, cornea, biobanks
Invest. Ophthalmol. Vis. Sci.. 2021; 62(13):24. doi: https://doi.org/10.1167/iovs.62.13.24

Includes: Supplemental Content

Articles August 2021

Distribution and Classification of Peripapillary Retinal Nerve Fiber Layer Thickness in Healthy Young Adults

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Gareth Lingham; Samantha Sze-Yee Lee; Jason Charng; Antony Clark; Fred K. Chen; Seyhan Yazar; David A. Mackey
TAGS: retinal nerve fiber layer, young adult, eye
Trans. Vis. Sci. Tech.. 2021; 10(9):3. doi: https://doi.org/10.1167/tvst.10.9.3

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Intronic variant in sonic hedgehog associated with autosomal dominant pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy, and primary open-angle glaucoma

Stuart W. Tompson; Kristina N. Whisenhunt; Alex W Hewitt; David A Mackey; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):5. doi:

ARVO Annual Meeting Abstract June 2021

Natural history of PRPF31 -associated retinopathy: multimodal imaging findings

Danial Roshandel; Jennifer A. Thompson; Rachael C Heath Jeffery; Dan Zhang; Tina M. Lamey; Terri L. McLaren; John N. De Roach; Samuel McLenachan; David A Mackey; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3207. doi:

ARVO Annual Meeting Abstract June 2021

Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia

Qinqin Liu; John Davis; Xikun Han; David A Mackey; Stuart MacGregor; Jamie E Craig; Lei Si; Alex W Hewitt

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2649. doi:

ARVO Annual Meeting Abstract June 2021

Risk factors for the development of keratoconus in young adults

Gareth Lingham; David A Mackey; Samantha SY Lee; Seyhan Yazar; Elsie Chan; Elaine Chong

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):784. doi:

ARVO Annual Meeting Abstract June 2021

Conjunctival ultraviolet autofluorescence area is predictive of pterygium onset in young adults

David A Mackey; Gareth Lingham; Jason Kugelman; Jason Charng; Samantha SY Lee; Seyhan Yazar; Minas T Coroneo; David Alonso-Caneiro

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):708. doi:

ARVO Annual Meeting Abstract June 2021

Axial lengths in a cohort of patients with a range of inherited retinal disease

Katie Williams; Michalis Georgiou; Angelos Kalitzeos; Pirro G Hysi; Gareth Lingham; David A Mackey; Andrew Webster; Christopher J Hammond; Michel Michaelides; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1393. doi:

ARVO Annual Meeting Abstract June 2021

The relationship between fetal growth and retinal nerve fibre layer thickness measured in a cohort of young adults

Kathleen Dyer; Seyhan Yazar; Paul Sanfilippo; John Newnham; Jamie E Craig; Alex W Hewitt; David A Mackey; Samantha SY Lee

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1583. doi:

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Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Change in peripapillary retinal nerve fibre layer thickness from 20 to 28 years old

A wavelength-agnostic, deep learning algorithm segmenting the hyperautofluorescent ring in retinitis pigmentosa

Evaluating the distribution of laterally corrected foveal avascular zone parameters.

Localised cone density and retinal sensitivity changes in female carriers of RPGR mutations

Machine learning-estimated axial length is better than spherical equivalent for identifying higher-risk myopic eyes

Choroidal Thickening During Young Adulthood and Baseline Choroidal Thickness Predicts Refractive Error Change

Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis

Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

Distribution and Classification of Peripapillary Retinal Nerve Fiber Layer Thickness in Healthy Young Adults

Intronic variant in sonic hedgehog associated with autosomal dominant pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy, and primary open-angle glaucoma

Natural history of PRPF31 -associated retinopathy: multimodal imaging findings

Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia

Risk factors for the development of keratoconus in young adults

Conjunctival ultraviolet autofluorescence area is predictive of pterygium onset in young adults

Axial lengths in a cohort of patients with a range of inherited retinal disease

The relationship between fetal growth and retinal nerve fibre layer thickness measured in a cohort of young adults

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