<i>MERTK</i> retinopathy: biomarkers assessing vision loss

Sakti, Dhimas Hari; Cornish, Elisa E; Mustafic, Nina; Zaheer, Afsah; Retsas, Stephanie; Rajagopalan, Sulekha; Chung, Clara; Ewans, Lisa; McCluskey, Peter; Nash, Benjamin; Jamieson, Robyn V; Grigg, John

doi:10.1080/13816810.2021.1955278

Cited by 4 publications

(3 citation statements)

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“…VENTURE is a rapidly expanding database that will be actively utilised to support future IRD research and the development of IRD treatments in Australia. The VENTURE study team aims to collaborate closely with clinicians, support organisations, and other research groups across Australia and New Zealand, 16,38,44,47 to maximise the outreach and potential benefit to the IRD community. This protocol intends to promote collaboration, open communications and the sharing of expertise and knowledge amongst IRD research groups in this region.…”

Section: Discussionmentioning

confidence: 99%

“…This evaluation enables accurate IRD diagnosis, and participants can then be enrolled into disease-specific longitudinal VENTURE sub-studies to investigate the natural history of specific IRDs. VENTURE also expands the network of natural history studies across Australia and New Zealand, [13][14][15][16] emphasising the importance of nationwide coverage to facilitate ease of access to emerging treatments for patients with IRDs.…”

Section: Introductionmentioning

confidence: 99%

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Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics

Britten‐Jones

O’Hare

Edwards

et al. 2022

Clinical Exper Ophthalmology

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Background Emerging treatments are being developed for inherited retinal diseases, requiring a clear understanding of natural progression and a database of potential participants for clinical trials. This article describes the rationale, study design and methodology of the Victorian Evolution of inherited retinal diseases NaTUral history REgistry (VENTURE), including data from the first 150 participants enrolled. Methods VENTURE collects retrospective and prospective data from people with inherited retinal diseases. Following registration, participants are asked to attend a baseline examination using a standardised protocol to confirm their inherited retinal disease diagnosis. Examination procedures include (i) retinal function, using visual acuity and perimetry; (ii) retinal structure, using multimodal imaging and (iii) patient‐reported outcomes. Participants' molecular diagnoses are obtained from their clinical records or through targeted‐panel genetic testing by an independent laboratory. Phenotype and genotype data are used to enrol participants into disease‐specific longitudinal cohort sub‐studies. Results From 7 July 2020 to 30 December 2021, VENTURE enrolled 150 registrants (138 families) and most (63%) have a rod‐cone dystrophy phenotype. From 93 participants who have received a probable molecular diagnosis, the most common affected genes are RPGR (13% of all registrants), USH2A (10%), CYP4V2 (7%), ABCA4 (5%), and CHM (5%). Most participants have early to moderate vision impairment, with over half (55%) having visual acuities of better than 6/60 (20/200) at registration. Conclusions The VENTURE study will complement existing patient registries and help drive inherited retinal disease research in Australia, facilitating access to research opportunities for individuals with inherited retinal diseases.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics

Britten‐Jones

O’Hare

Edwards

et al. 2022

Clinical Exper Ophthalmology

View full text Add to dashboard Cite

show abstract

“…These rats suffer an impairment of the phagocytic capacity of the retinal pigment epithelium [ [40] , [41] , [42] , [43] ] due to an autosomal recessive mutation in the MERTK gene [ 44 ]. This mutation has also been observed in human patients with a form of early-onset RP [ [45] , [46] , [47] ]. In RCS rats, it causes progressive photoreceptor degeneration [ [2] , [48] , [49] , [50] , [51] , [52] ], increased retinal gliosis [ 50 ] and alteration of the retrograde axonal transport in retinal ganglion cells and retinal ganglion cell loss [ 1 , 2 , 4 , 53 ].…”

Section: Introductionmentioning

confidence: 94%