An observational study in Genetic Disease and Inherited Disease, sponsored by The Hospital for Sick Children. Recruiting at 1 site in Canada. Open to participants aged 5 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-04-28.
Sponsored by The Hospital for Sick Children · Observational
This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. The study would use adaptive optics (AO) technology to assist in-vivo visualization of these retinal structures and ascertain changes from normal. Further, by using the AO imaging in patients before and after treatments, this study aims to better understand the effect of various interventions and develop AO as an outcome measure in various retinal disorders.
The investigators plan to recruit approximately 200 participants (approximately 175 study subjects and 25 Control group) having an inherited or acquired retinal disease. The study participants will be screened based on Inclusion and exclusion criteria. Eligible study and control participants will be consented prior to conducting any study related procedures. For the Data Collection, patient information including previous eye examination, past medical history and family history will be obtained from hospital charts. Patients will be asked to return for a follow-up visit at 6-months and at 1 year.
The Objectives of the study include:
The primary outcome measures will be the quantify cone photoreceptors (density and spacing), retinal pigment epithelium density and retinal blood vascular flow in retinal disorders and compare it with controls. This will be calculated using software algorithms incorporated within AO machine (rtx1). Patient data will be compared with age-matched control data.
The secondary outcome measure would be to ascertain if using rtx1, the rate of progression of retinal disease or treatment effect can be quantified. To accomplish this, areas that were imaged at baseline will be reimaged at the follow up visits. Since the rtx1 machine has the capability to identify exact retinal location between the visits, these follow up images will be compared to baseline images to determine rate of disease progression or effectiveness of treatment.
403 studies on the registry are indexed under Genetic Diseases, Inborn; 145 are open to participants now.
This study's planned enrollment of 200 is close to the median of 192 across 195 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →The Hospital for Sick Children is the lead sponsor of 568 studies on the registry; 81 are open to participants now.
Of its 7 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
Counted across the registry records on this site, refreshed daily.
Initial contact with all study participants will be by their regular ophthalmologist during a regular clinic visit. All study participants will be explained the study objectives and procedures in detail by an investigator not involved in their direct care.
Patients with retinal dystrophies will be recruited through the Ocular Genetics Program (OGP) at the Hospital for Sick Children. Patients with acquired retinal disorders will be recruited from the pediatric retina clinic at the Hospital for Sick Children.
Control group Inclusion Criteria:
Exclusion Criteria:
Approximately 175 Study Subjects
Device: Adaptive Optics Retinal Camera
Approximately 25 Control group
Device: Adaptive Optics Retinal Camera
The rtx1 is a non-invasive device functions without making contact with the eye. The fundus of the patient's eye is illuminated with the IR light emitted from the illumination optical system. The device is comprised of an optoelectronic sensor (OES) that measures the optical defects, software that calculates the necessary corrections and a deformable mirror (DM) that constantly adapts its shape to restore the image's clarity. The digital camera, which is built into the instrument, receives the images and then the images are recorded in the computer hard disk. The AO image software registers and averages the captured image series in order to reduce noise and produce a final enhanced image. The rtx1 integrates AO technology in a flood illumination imaging system and enables visualizing the retina with a high transverse optical resolution of 250 line-pairs per millimeter.
To measure the change in Quantification of cone receptors
The primary outcome measures will be to measure the change in the quantification of cone photoreceptors (density and spacing).This will be calculated using software algorithms incorporated within AO machine (rtx1).
Time frame: Primary outcome will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
To measure the change in Quantification of the retinal pigment epithelium density
The primary outcome measure will be to measure the change in quantification of the retinal pigment epithelium density. This will be calculated using software algorithms incorporated within AO machine (rtx1).
Time frame: Primary outcomes will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
To measure the change in Quantification of retinal blood vascular flow in retinal disorders
The primary outcome measures the wall-to-lumen ratio (WLR) and the vascular wall cross-sectional area (WSCA) of retinal arterioles.
Time frame: Primary outcomes will be measured at Baseline, 6-months ,1 year. The patient data will be compared to the control data.
To measure the change and rate of progression of retinal disease
The secondary outcome measure would be to ascertain if using rtx1, the rate of progression of retinal disease or treatment effect can be quantified. To accomplish this, areas that were imaged at baseline will be reimaged at the follow up visits. Since the rtx1 machine has the capability to identify exact retinal location between the visits, these follow up images will be compared to baseline images to determine rate of disease progression or effectiveness of treatment.
Time frame: Secondary outcomes will be measured at follow-up visits. They will be compared to Baseline visits and measured at 6-months interval and a year
Plan to share: Yes — Deidentified IPD will be shared as part of a cohort (pertaining to specific genetic disorders). This will include age, sex, genetic variant, retinal photographs and adaptive optics images.
Supporting information: Study protocol
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