ORCID Profile
0000-0001-9878-4621
Current Organisations
Anglia Ruskin University
,
National University of Singapore
,
Peter MacCallum Cancer Centre
,
University of Oxford
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Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 07-11-2016
Publisher: Springer Science and Business Media LLC
Date: 10-2018
Publisher: Elsevier BV
Date: 09-2023
Publisher: Elsevier BV
Date: 06-2015
Publisher: Wiley
Date: 12-06-2022
DOI: 10.1111/CEO.14110
Abstract: 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. 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. 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. The VENTURE study will complement existing patient registries and help drive inherited retinal disease research in Australia, facilitating access to research opportunities for in iduals with inherited retinal diseases.
Publisher: Massachusetts Medical Society
Date: 19-05-2016
DOI: 10.1056/NEJMC1509501
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 30-10-2017
Publisher: Wiley
Date: 20-10-2023
DOI: 10.1111/CGE.14442
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 12-07-2016
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 29-08-2016
Publisher: Informa UK Limited
Date: 13-01-2022
DOI: 10.1080/08164622.2021.2023477
Abstract: For many inherited and acquired retinal diseases, reduced night vision is a primary symptom. Despite this, the clinical testing options for spatially resolved scotopic vision have until recently been limited. Scotopic microperimetry is a relatively new visual function test that combines two-colour perimetry with fundus-controlled perimetry performed in scotopic luminance conditions. The technique enables spatially resolved mapping of central retinal sensitivity alongside the ability to distinguish between rod and cone photoreceptor sensitivities. Two companies produce commercially available scotopic microperimeters - Nidek (Nidek Technologies Srl, Padova, Italy) and CenterVue (CenterVue S.p.A., Padova, Italy). Scotopic microperimetry is a promising technology capable of detecting changes in retinal sensitivity before changes in other measures of visual function. Scotopic microperimetry is a promising functional biomarker that has the potential as a useful clinical trial outcome measure. This review summarises the evolution and applications of scotopic microperimetry, and discusses testing options, including testing grid selection, dark-adaptation time and threshold sensitivity analyses.
Publisher: Elsevier BV
Date: 10-2022
DOI: 10.1016/J.CCELL.2022.09.007
Abstract: There is increasing recognition of the prognostic significance of tumor cell major histocompatibility complex (MHC) class II expression in anti-cancer immunity. Relapse of acute myeloid leukemia (AML) following allogeneic stem cell transplantation (alloSCT) has recently been linked to MHC class II silencing in leukemic blasts however, the regulation of MHC class II expression remains incompletely understood. Utilizing unbiased CRISPR-Cas9 screens, we identify that the C-terminal binding protein (CtBP) complex transcriptionally represses MHC class II pathway genes, while the E3 ubiquitin ligase complex component FBXO11 mediates degradation of CIITA, the principal transcription factor regulating MHC class II expression. Targeting these repressive mechanisms selectively induces MHC class II upregulation across a range of AML cell lines. Functionally, MHC class II
Publisher: Springer Science and Business Media LLC
Date: 05-02-2018
DOI: 10.1007/S00417-018-3921-0
Abstract: The purpose of this study was to characterise alterations in colour discrimination in a cohort of patients with choroideremia prior to gene therapy, using a test previously validated for use in patients with retinal dystrophies. We tested 20 eyes of 10 patients with a diagnosis of choroideremia and an age-matched cohort of 10 eyes of 10 normal controls using the "Cambridge Colour Test" (CCT), in which subjects are required to distinguish the gap in a C presented in one of 4 orientations in a Stilling-type array. Colour discrimination was probed along eight axes in the CIE L*u*v* colour space, and the resulting data were plotted in the CIE 1976 chromaticity diagram and fitted with least-squares ellipses. Subsequently, we estimated the achromatic area for each subject by calculating the area of the resultant discrimination ellipse and calculated sensitivity thresholds along relevant colour confusion axes. Colour discrimination-as quantified by log The majority of our patients demonstrated greater loss in tritan discrimination than in red-green colour discrimination using the CCT. There was a significant correlation between achromatic area and BCVA. In keeping with our current understanding of the machinery of colour vision, there was a significant correlation between BCVA and colour discrimination thresholds, which was stronger for red-green colour discrimination, than for tritan colour discrimination. We propose that this and similar tests of colour discrimination may prove to be suitable tools for assessing functional outcomes in gene therapy trials for choroideremia.
Publisher: American Medical Association (AMA)
Date: 03-2017
DOI: 10.1001/JAMAOPHTHALMOL.2016.5630
Abstract: The early decline and recovery of retinal structure and function following iatrogenic macular detachment for retinal gene therapy is not well characterized in those with relatively preserved central visual function. Here, the recovery of retinal structure and function over the first month following iatrogenic retinal detachment for the delivery of adeno-associated viral vector encoding Rab Escort Protein 1 is described as a part of gene therapy for choroideremia. To study changes in both retinal structure and function during the first month following iatrogenic macular detachment surgery. This prospective interocularly controlled study was conducted between February 1 and December 31, 2015. Treatment consisted of a subretinal injection of 0.1 mL of a gene therapy solution containing 1 × 1011 viral particles performed unilaterally. The participants were 5 males, aged 23 to 71 years, with a clinical and genetic diagnosis of choroideremia. Retinal structure and function were assessed at baseline, 1 week, and 1 month using optical coherence tomography, logMAR visual acuity, microperimetry, the Farnsworth-Munsell (FM) 100-hue test, and the Rayleigh match. Five white male patients aged 23 to 71 years underwent unilateral subretinal gene therapy for genetically confirmed choroidermeia. Optical coherence tomographic images demonstrated a complete resolution of the resulting iatrogenic retinal detachment by 1 week in all 5 patients. At 1 month, the mean (SE) change in central foveal thickness was +9.6 (7.2) μm in treated eyes and +8.8 (12.6) μm in control eyes. The mean (SE) change in visual acuity was +5.4 (3.3) letters in treated eyes and +0.8 (3.1) letters in control eyes. At 1 month, the mean (SE) threshold sensitivity changes were -1.2 (2.1) dB in treated eyes and -1.0 (1.2) dB in control eyes. Color discrimination at the FM 100-hue changed little at 1 month (mean [SE] change in C-index, -0.2 [0.4] in treated eyes and 0.1 [0.2] in control eyes). Rayleigh matches in 1 patient were consistent with a diagnosis of pseudoprotanomaly, suggesting decreased effective optical density of the cone photopigments. Retinal structural recovery-as assessed by optical coherence tomography-occurs soon after iatrogenic detachment. Similarly, visual acuity recovers or improves within 1 month of the procedure and may not be accompanied by improvements in threshold sensitivity or color discrimination. Changes in color matching in 1 patient suggest decreased optical density of the cone photopigments in the early postoperative period.
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 13-07-2021
DOI: 10.1167/TVST.10.8.12
Publisher: Springer Science and Business Media LLC
Date: 12-01-2023
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Jasleen Jolly.