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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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ABSTRACT

Purpose

Mer tyrosine kinase-retinitis pigmentosa (MERTK-RP) causes a primary defect in the retinal pigment epithelium, which subsequently affects rod and cone photoreceptors. The study aims to identify the most appropriate MERTK-RP biomarkers to measure disease progression for deciding the optimum therapeutic trial intervention time.

Materials and Methods

Patients’ data from baseline (BL) and last follow-up (LFU) were reviewed. Best corrected visual acuity (BCVA), spectral domain-optical coherence tomography (SD-OCT), ultra-widefield fundus autofluorescence (UWF-FAF) patterns, kinetic perimetry (KP), and electroretinography (ERG) parameters were analyzed.

Results

Five patients were included with the mean age of 17.7 ± 14.4 years old (6.7–42.3) at BL and mean BCVA follow-up of 8.4 ± 5.1 years. Mean BCVA at BL and LFU were 0.84 ± 0.86 LogMAR and 1.14 ± 0.86 LogMAR, respectively. The BCVA decline rate was 0.05 ± 0.03 LogMAR units/year. Ellipzoid zones (EZ) were measurable in eight eyes with mean BL length of 1293.75 ± 421.07 µm and reduction of 140.95 ± 69.28 µm/year and mean BL CMT of 174.2 ± 37.52 µm with the rate of 11.2 ± 12.77 µm declining/year. Full-field ERG (ffERG) and pattern ERG (pERG) were barely recordable. UWF-FAF showed central macular hyper-autofluorescence (hyperAF). KP (III4e and V4e) was normal in two eyes, restricted nasally in four eyes, superior wedge defect in two eyes and undetectable in two eyes. The four restricted nasally KPs became worse, while the others stayed almost unchanged.

Conclusions

This cohort showed early visual loss, moderately rapid EZ reduction and macular hyperAF. EZ, CMT, and BCVA were consistently reduced. Relative rapid decline in these biomarkers reflecting visual function suggests an early and narrow timespan for intervention.

Acknowledgements

The authors would like to thank Dr Maria Korsakova, Dr Nonna Saakova and Ms Haipha Ali for electrophysiology testing and assessment. DHS also would like to thank Indonesia Endowment Fund for Education (LPDP) for the scholarship.

Disclosure of Interest

D.H Sakti, None; E.E Cornish, None; N. Mustafic, None; A. Zaheer, None; S. Retsas, None; S. Rajagopalan, None; C.W.T Chung, None; L. Ewans, None; P. McCluskey, None; B. M Nash; R.V Jamieson, Novartis (C); J. R Grigg, Novartis (C).

Additional information

Funding

This study was partly funded by National Health and Medical Research Council (NHMRC) Grants APP1116360, APP1099165, APP1109056 and Ophthalmic Research Institute of Australia (ORIA).The funding organization had no role in the design or conduct of this research.

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