Jasleen Kaur Jolly

Jolly Vision Science

Retinal gene therapy is increasingly recognized as a novel molecular intervention that has huge potential in treating common causes of blindness, the majority of which have a genetic aetiology1–5. Choroideremia is a chronic X-linked retinal degeneration that was first described in 1872⁶. It leads to progressive blindness due to deficiency of Rab-es...

Multiple gene therapy trials are occurring for a variety of ophthalmic diseases around the world. The safety of gene therapy in the eye has been established, and the next step is to reliably assess efficacy. This is primarily done through the use of imaging techniques and visual function measures. Standardized visual function assessments, however,...

Objectives To explore patients’ experiences of getting a diagnosis of eye disease, the psychological impact of this and how this could be improved. Design An exploratory qualitative interview study using a narrative approach and inductive methods. Setting This study was conducted with patients who had attended ophthalmic appointments in primary a...

Fundus-controlled perimetry (FCP, also called 'microperimetry') allows for spatially-resolved mapping of visual sensitivity and measurement of fixation stability, both in clinical practice as well as research. The accurate spatial characterization of visual function enabled by FCP can provide insightful information about disease severity and progre...

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 performe...

Purpose Understanding test–retest variability (TRV) of mesopic microperimetry is critical for defining meaningful treatment effects in retinitis pigmentosa (RP) trials. This study uniquely evaluates intra‐ and intervisit TRV and coefficients of repeatability (CoRs) for microperimetry parameters in RP patients with varying best‐corrected visual acui...

Purpose The purpose of this study was to provide a large, multi-center normative dataset for the Macular Integrity Assessment (MAIA) microperimeter and compare the goodness-of-fit and prediction interval calibration-error for a panel of hill-of-vision models. Methods Microperimetry examinations of healthy eyes from five independent study groups an...

Background Charles Bonnet syndrome (CBS) is a condition in which people with vision loss experience complex visual hallucinations. These complex visual hallucinations may be caused by increased excitability in the visual cortex that are present in some people with vision loss but not others. Objectives We aimed to evaluate the association between...

X-linked genetic disorders typically affect females less severely than males due to the presence of a second X Chromosome not carrying the deleterious variant. However, the phenotypic expression in females is highly variable, which may be explained by an allelic skew in X-Chromosome inactivation. Accurate measurement of X inactivation skew is cruci...

Background/aims Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry. Methods Choroidere...

Objective To improve the understanding of the natural disease progression of retinitis pigmentosa GTPaseregulator (RPGR)-associated X-linked retinitis pigmentosa (XLRP). Design A multicenter, prospective, observational natural history study over 24 months. Participants Male participants aged ≥7 years with a pathogenic variant in the RPGR gene, a...

Introduction Degeneration in choroideraemia, unlike typical centripetal photoreceptor degenerations, is centred temporal to the fovea. Once the fovea is affected, the nasal visual field (temporal retina) is relatively spared, and the preferred retinal locus shifts temporally. Therefore, when reading left to right, only the right eye reads into a sc...

Purpose Female carriers of X-linked inherited retinal diseases (IRDs) can show highly variable phenotypes and disease progression. Vascular reactivity, a potential disease biomarker, has not been investigated in female IRD carriers. In this study, functional optical coherence tomography angiography (OCT-A) was used to dynamically assess the retinal...

Neuroscience is advancing standardization and tool development to support rigor and transparency. Consequently, data pipeline complexity has increased, hindering FAIR (findable, accessible, interoperable and reusable) access. brainlife.io was developed to democratize neuroimaging research. The platform provides data standardization, management, vis...

Introduction Glaucoma care demand in UK hospitals has increased rapidly in recent years resulting in a push to community care models to reduce the burden on hospitals and on patients. Aims To ascertain patient’s experiences of their care delivered in community clinics. Methods Patients’ thoughts of feeling safe under the care of the community cli...

X-linked genetic disorders typically affect females less severely than males due to the presence of a second X chromosome not carrying the deleterious variant. However, the phenotypic expression in females is highly variable, which may be explained by an allelic skew in X chromosome inactivation. Accurate measurement of X inactivation skew is cruci...

Purpose: To provide a large, multi-center normative dataset for the Macular Integrity Assessment (MAIA) microperimeter and compare the goodness-of-fit and prediction interval calibration-error for a panel of hill-of-vision models. Methods: Microperimetry examinations from five independent study groups and one previously available dataset were inclu...

Recent advances have led to therapeutic options becoming available for people with inherited retinal disease. In particular, gene therapy has been shown to hold great promise for slowing vision loss from inherited retinal disease. Recent studies suggest that gene therapy is likely to be most effective when implemented early in the disease process,...

Objectives Glaucoma care demand in UK hospitals has exploded in recent years. This has resulted in a push to community (shared, virtual, etc) care models to reduce the burden on hospital systems and on patients. The study aimed to ascertain patient’s experiences around various aspects of their care delivered in community clinics. Design Observatio...

The full-field stimulus test (FST) is a psychophysical technique designed for the measurement of visual function in low vision. The method involves the use of a ganzfeld stimulator, as used in routine full-field electroretinography, to deliver full-field flashes of light. This guideline was developed jointly by the International Society for Clinica...

When a person is diagnosed with a condition leading to vision loss, life cannot go on as before. As well as developing new ways to manage their daily activities, people must manage the shock to their identity and decide how they now wish to present themselves. These add to the cognitive load of people with who experience vision loss over and above...

Female carriers of X‐linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease‐causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowled...

Our study evaluated the morphological and functional outcomes, and the side effects, of voretigene neparvovec (VN) gene therapy for RPE65-mediated inherited retinal dystrophies (IRDs) in 12 eyes (six patients) at the Oxford Eye Hospital with a mean follow-up duration of 8.2 (range 1–12) months. All patients reported a subjective vision improvement...

Purpose In patients with choroideremia, it is not known how smooth and mottled patterns on short-wavelength fundus autofluorescence (AF) imaging relate to retinal function. Methods A retrospective case-note review was undertaken on 190 patients with choroideremia at two specialist centers for retinal genetics. Twenty patients with both smooth and...

Purpose Clinical research brings the potential of improved diagnostics, sight-saving treatments, and more accessible services to those suffering with severe sight impairment (SSI). This report investigates whether registered ophthalmology clinical studies address the leading causes of SSI in the general and working populations of the United Kingdom...

Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss. T...

Neuroscience research has expanded dramatically over the past 30 years by advancing standardization and tool development to support rigor and transparency. Consequently, the complexity of the data pipeline has also increased, hindering access to FAIR (Findable, Accessible, Interoperabile, and Reusable) data analysis to portions of the worldwide res...

Neuroscience research has expanded dramatically over the past 30 years by advancing standardization and tool development to support rigor and transparency. Consequently, the complexity of the data pipeline has also increased, hindering access to FAIR data analysis to portions of the worldwide research community. brainlife.io was developed to reduce...

Purpose: To explore which microperimetry sensitivity index (pointwise sensitivity, mean sensitivity, and volume sensitivity) is suitable as a microperimetry outcome measure in patients with X-linked RPGR-associated retinitis pigmentosa (RP). Methods: Microperimetry data from patients with RPGR-associated RP were collected and analyzed retrospect...

Background Treatment options for patients with inherited retinal disease are limited, although research into novel therapies is underway. To ensure the success of future clinical trials, appropriate visual function outcome measures that can assess changes resulting from therapeutic interventions are urgently required. Rod-cone degenerations are the...

Purpose: Microperimetry provides an accurate assessment of central retinal sensitivity due to its fundus-tracking capability, but it has limited reliability indicators. One method currently employed, fixation loss, samples the optic nerve blind spot for positive responses; however, it is unclear if these responses arise from unintentional button p...

Purpose: The scotopic macular integrity assessment (S-MAIA) can perform scotopic assessment to detect localized changes to scotopic rod and cone function. This study is an exploratory investigation of the feasibility of using the S-MAIA in a rod-cone dystrophy population to identify the pattern of loss in scotopic photoreceptor function. Methods:...

Background Paramedics undertake visually demanding tasks, which may be adversely affected by low lighting conditions. Aims The study aimed to: identify difficulties paramedics experience carrying out tasks in low light; and establish occupational health standards and adjustments that may improve working practices. Methods A scoping review was und...

Research is the core of evidence‐based practice across all healthcare, in order to ensure optimum patient care. The College of Optometrists is a national standard setting institution for optometric practice in the United Kingdom. However, the standards are only as good as the available evidence, and currently there is little evidence relating direc...

Stargardt Macular Dystrophy (STGD1) causes retinal degeneration predominantly affecting the cone photoreceptors, resulting in loss of central vision and colour vision. Understanding how this loss affects cortical visual processing will be important for evaluating outcomes following therapy to restore retinal function. The retinotopic organisation o...

Background: Optic neuropathy is a near ubiquitous feature of Friedreich's ataxia (FRDA). Previous studies have examined varying aspects of the anterior and posterior visual pathways but none so far have comprehensively evaluated the heterogeneity of degeneration across different areas of the retina, changes to the macula layers and combined these...

A diagnosis of conditions leading to vision loss can be devastating and often impacts mental health. Understanding this allows us to consider what provisions might help those who are impacted. We undertook 18 semi-structured interviews with patients diagnosed with eye disease leading to vision loss to explore its psychological impact. Participants...

Background: This study aimed to compare phenotype-genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. Methods: Case notes of patients with USH or NS-ARRP and a molecularly confirmed diagnosis in genes associated with Usher synd...

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 REgistr...

Purpose: Peripheral visual fields have not been as well defined by static automated perimetry as kinetic perimetry in RPGR-related retinitis pigmentosa. This study explores the pattern and sensitivities of peripheral visual fields, which may provide an important end point when assessing interventional clinical trials. Methods: A retrospective ob...

Purpose: We aimed to assess the performance of the modified-Esterman test (mET) as a rapid suprathreshold binocular quantification tool for the assessment of peripheral visual fields. The mET consists of an even spread of test points across the visual field. Materials and methods: The mET was implemented on the Octopus 0900 perimeter using the O...

Purpose To quantify the effect of cataract on colour vision as measured by the low vision Cambridge Colour Test (lvCCT). A secondary aim of our study was to understand whether different types and severities of cataract have different effects on colour vision. Design Cohort study Subjects Patients aged 18 - 95 years attending for routine cataract...

Color vision is considered a marker of cone function and its assessment in patients with retinal pathology is complementary to the assessments of spatial vision [best-corrected visual acuity (BCVA)] and contrast detection (perimetry). Rod-cone and chorioretinal dystrophies—such as choroideremia—typically cause alterations to color vision, making it...

Vernier acuity measures the ability to detect a misalignment or positional offset between visual stimuli, for example between two vertical lines when reading a vernier scale. It is considered a form of visual hyperacuity due to its detectable thresholds being considerably smaller than the diameter of a foveal cone receptor, which limits the spatial...

Purpose: Choroideremia results from the deficiency of Rab Escort Protein 1 (REP1), encoded by CHM, involved in the prenylation of Rab GTPases. Here, we investigate whether the transcription and expression of other genes involved in the prenylation of Rab proteins correlates with disease progression in a cohort of patients with choroideremia. Meth...

Purpose: Mean retinal sensitivity is the main output measure used in microperimetry. It is, however, of limited use in patients with poor vision because averaging is weighted toward zero in those with significant scotomas creating an artificial floor effect. In contrast, volumetric measures avoid these issues and are displayed graphically as a hil...

Microperimetry, or fundus‐tracked perimetry, is a precise static‐automated perimetric technique to assess central retinal function. As visual acuity only deteriorates at a late disease stage in RPGR‐related retinitis pigmentosa (RP), alternative markers for disease progression are of great utility. Microperimetry assessment has been of critical val...

Introduction: Choroideremia and RPGR-associated retinitis pigmentosa (RP) are two distinct inherited rod-cone degenerations, where good visual acuity (VA) is maintained until late disease stages, limiting its usefulness as a disease marker. Low luminance VA and low luminance deficit (standard VA minus low luminance VA) may be more sensitive visual...

Background: Characterisation of preserved autofluorescence (PAF) area in choroideremia (CHM) and its validity for monitoring disease progression in clinical trials is of importance. Methods: Eighty patients with molecularly confirmed CHM were recruited. PAF area was measured manually by 2 graders and half-life was calculated based on exponential...

Purpose The measurement of standard visual acuity (VA) is the most well‐known part of any ophthalmic examination to indicate visual function. Despite this, it is insensitive in detecting early disease changes. Therefore, other visual function tests have been developed including low luminance VA (LLVA) and low luminance deficit (LLD). This scoping l...

Background A common limitation of typical projection systems used for visual fMRI is the limited field of view that can be presented to the observer within the scanner. A wide field of view over which stimuli can be presented is critical when investigating peripheral visual function, in particular visual disorders or diseases that lead to the loss...

Background Loss of photoreceptors cause degeneration in areas of the retina beyond the photoreceptors. The pattern of changes has implications for disease monitoring and measurement of functional changes. The aim of the study was to study the changes in inner retinal structure associated with photoreceptor disease, and the impact of these on microp...

A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three participants were identified with biallelic NR2E3 pathogenic sequence...

Background/Aim An increasing number of pre-presbyopic patients are undergoing uniocular cataract extraction. We aim to compare the binocular status of subjects with uniocular cataracts, implanted either with a multifocal or a monofocal intraocular lens (IOL). Materials and Methods Subjects were recruited from outpatient ophthalmology clinics and r...

Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages. Background Choroid...

Introduction: Introduction of retinal gene therapy requires established outcome measures along with thorough understanding of the pathophysiology. Evidence of early, thinned outer segments in RPGR X-linked RP could help understand how the level of cone photoreceptor involvement translates to visual potential. Objective: Analysis of foveal photor...

Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patien...

Background: Transcorneal electrical stimulation (TES) has been suggested as a possible treatment for retinitis pigmentosa (RP). Objective: To expand the safety assessment of repeated applications of an electrical current from a DTL-like electrode in patients with RP. Methods: This single-arm open label interventional safety trial included a to...

Purpose: Choroideremia is an X-linked retinal disease characterized by early retinal pigment epithelium (RPE) loss and subsequent retinal degeneration. The RPE adopts either a smooth or mottled appearance on fundus autofluorescence (FAF). It is not known how RPE changes predict the health of the overlying ellipsoid zone (EZ). Methods: A retrospe...