MERTK retinopathy: biomarkers assessing vision loss

doi:10.1080/13816810.2021.1955278

. 2021 Dec;42(6):706-716.

doi: 10.1080/13816810.2021.1955278. Epub 2021 Jul 22.

MERTK retinopathy: biomarkers assessing vision loss

Dhimas H Sakti^{1

2}, Elisa E Cornish^{1

3}, Nina Mustafic¹, Afsah Zaheer¹, Stephanie Retsas¹, Sulekha Rajagopalan⁴, Clara Wt Chung^{4

5}, Lisa Ewans^{6

7}, Peter McCluskey¹, Benjamin M Nash^{3

8

9}, Robyn V Jamieson^{1

3

8

10}, John R Grigg^{1

3}

Affiliations

¹ Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
² Department of Ophthalmology, Faculty of Medicine, Public Health and Nursing; Universitas Gadjah Mada, Yogyakarta, Indonesia.
³ Eye Genetics Research Unit, Children's Medical Research Institute, the Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
⁴ Department of Clinical Genetics, Liverpool Hospital, Liverpool BC, NSW, Australia.
⁵ School of Women's & Children's Health, University of NSW, Sydney, NSW, Australia.
⁶ Department of Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
⁷ Faculty of Medicine and Health Central Clinical School, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
⁸ Disciplines of Genomic Medicine & Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
⁹ Sydney Genome Diagnostics, Western Sydney Genetics Program, the Children's Hospital at Westmead, Sydney, NSW, Australia.
¹⁰ Department of Clinical Genetics, Western Sydney Genetics Program, the Children's Hospital at Westmead, Sydney, NSW, Australia.

PMID: 34289798
DOI: 10.1080/13816810.2021.1955278

MERTK retinopathy: biomarkers assessing vision loss

Dhimas H Sakti et al. Ophthalmic Genet. 2021 Dec.

. 2021 Dec;42(6):706-716.

doi: 10.1080/13816810.2021.1955278. Epub 2021 Jul 22.

Authors

Affiliations

¹ Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
² Department of Ophthalmology, Faculty of Medicine, Public Health and Nursing; Universitas Gadjah Mada, Yogyakarta, Indonesia.
³ Eye Genetics Research Unit, Children's Medical Research Institute, the Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
⁴ Department of Clinical Genetics, Liverpool Hospital, Liverpool BC, NSW, Australia.
⁵ School of Women's & Children's Health, University of NSW, Sydney, NSW, Australia.
⁶ Department of Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
⁷ Faculty of Medicine and Health Central Clinical School, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
⁸ Disciplines of Genomic Medicine & Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
⁹ Sydney Genome Diagnostics, Western Sydney Genetics Program, the Children's Hospital at Westmead, Sydney, NSW, Australia.
¹⁰ Department of Clinical Genetics, Western Sydney Genetics Program, the Children's Hospital at Westmead, Sydney, NSW, Australia.

PMID: 34289798
DOI: 10.1080/13816810.2021.1955278

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.

Keywords: MERTK; biomarker; inherited retinal disease; retinal dystrophy; retinitis pigmentosa.

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Cited by

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.
Britten-Jones AC, O'Hare F, Edwards TL, Ayton LN; VENTURE Study Consortium. Britten-Jones AC, et al. Clin Exp Ophthalmol. 2022 Sep;50(7):768-780. doi: 10.1111/ceo.14110. Epub 2022 Jun 12. Clin Exp Ophthalmol. 2022. PMID: 35621151 Free PMC article.

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MERTK retinopathy: biomarkers assessing vision loss

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MERTK retinopathy: biomarkers assessing vision loss

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