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Ophthalmic Genetics Volume 42, 2021 - Issue 6
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Research Reports

MERTK retinopathy: biomarkers assessing vision loss

Dhimas H. Saktia Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia;b Department of Ophthalmology, Faculty of Medicine, Public Health and Nursing; Universitas Gadjah Mada, Yogyakarta, IndonesiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-5872-0404View further author information
, , MBBSORCID Icon,
Elisa E. Cornisha Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia;c Eye Genetics Research Unit, Children’s Medical Research Institute, the Children’s Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0003-3898-8811View further author information
, , PhD, FRANZCOORCID Icon,
Nina Mustafica Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaView further author information
, , BMSci, MOrth,
Afsah Zaheera Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaView further author information
, , BHSci, MOrth,
Stephanie Retsasa Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaView further author information
, , BForBiol, MOrth,
Sulekha Rajagopaland Department of Clinical Genetics, Liverpool Hospital, Liverpool BC, NSW, AustraliaView further author information
, , MBBS, FRACP,
Clara WT Chungd Department of Clinical Genetics, Liverpool Hospital, Liverpool BC, NSW, Australia;e School of Women’s & Children’s Health, University of NSW, Sydney, NSW, AustraliaView further author information
, , MBBS, FRACP,
Lisa Ewansf Department of Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia;g Faculty of Medicine and Health Central Clinical School, Sydney Medical School, University of Sydney, Sydney, NSW, AustraliaView further author information
, , MBBS, FRACP,
Peter McCluskeya Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0002-8177-1637View further author information
, , MD, FRANZCOORCID Icon,
Benjamin M. Nashc Eye Genetics Research Unit, Children’s Medical Research Institute, the Children’s Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia;h Disciplines of Genomic Medicine & Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia;i Sydney Genome Diagnostics, Western Sydney Genetics Program, the Children’s Hospital at Westmead, Sydney, NSW, AustraliaView further author information
, , BMedSci,
Robyn V. Jamiesona Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia;c Eye Genetics Research Unit, Children’s Medical Research Institute, the Children’s Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia;h Disciplines of Genomic Medicine & Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia;j Department of Clinical Genetics, Western Sydney Genetics Program, the Children’s Hospital at Westmead, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0002-7285-0253View further author information
, , PhD, FRACPORCID Icon &
John R. Grigga Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia;c Eye Genetics Research Unit, Children’s Medical Research Institute, the Children’s Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, AustraliaORCID Iconhttps://orcid.org/0000-0002-6763-8119View further author information
, , MD, FRANZCOORCID Icon show all
Pages 706-716 | Received 30 Apr 2021, Accepted 09 Jul 2021, Published online: 22 Jul 2021

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Dhimas H. Sakti, Elisa E. Cornish, Benjamin M. Nash, Robyn V. Jamieson & John R. Grigg. (2023) IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search. Ophthalmic Genetics 44:5, pages 437-455.
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Articles from other publishers (2)

Ana Martínez-Vacas, Johnny Di Pierdomenico, Alejandro Gallego-Ortega, Francisco J. Valiente-Soriano, Manuel Vidal-Sanz, Serge Picaud, María Paz Villegas-Pérez & Diego García-Ayuso. (2022) Systemic taurine treatment affords functional and morphological neuroprotection of photoreceptors and restores retinal pigment epithelium function in RCS rats. Redox Biology 57, pages 102506.
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Alexis Ceecee Britten‐Jones, Fleur O'Hare, Thomas L. Edwards & Lauren N. Ayton. (2022) Victorian evolution of inherited retinal diseases natural history registry ( VENTURE study): Rationale, methodology and initial participant characteristics . Clinical & Experimental Ophthalmology 50:7, pages 768-780.
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