Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
Duke University
Summary
The goal of this observational study is to utilize a novel imaging system designed for high-resolution retinal imaging of neonates, infants and children to identify the signs of photoreceptor development and degeneration in children with early-onset inherited retinal dystrophies (EORDs). Participants will have research imaging with SS-HH-OCT at the time of clinically-indicated eye examinations or procedures. The investigators aim to establish the basis for utilization of OCT imaging in earlier diagnosis and disease monitoring in children with EORDs. This work will set data reference standards and IRD endpoints that can be used in clinical trials.
Description
What photoreceptor degenerative changes take place in children with early-onset inherited retinal dystrophies, and how is photoreceptor development in this patient population affected by genetic defects? Our novel investigational SS-HH-OCT system features high scanning speed, long laser wavelength, and an ergonomic light-weight handheld design. The investigators hypothesize that imaging with this system will enable us to characterize early-onset retinal dystrophies (EORD)-associated PDCs in young children. To this end, the investigators propose the following specific aims: Specific Aim 1: Op…
Eligibility
- Age range
- 0–8 years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: For all participants: * Participant's age is between 0 through 8 years (\<9 years) * Parent/legal guardian gives consents for the imaging study * No ocular media opacities that could preclude imaging * Refractive error equal or lower than 6 diopters For EORD participants (Groups 1-2): Meets clinical and molecular diagnosis of EORD (clinical determined by PI). Molecular diagnosis criteria: * Autosomal dominant gene: One pathogenic or likely pathogenic variant that meets the clinical phenotype * Autosomal recessive gene: two pathogenic or likely pathogenic variants in-tr…
Interventions
- DeviceSS-HH-OCT
The investigational swept source OCT systems with handheld UC handpieces used in this study were developed at Duke University. OCT systems are non-contact, in-vivo optical imaging technology. The OCT system creates real-time, non-invasive images of ocular microstructure. OCT devices held above or in front of the eye while the sweeping infrared OCT beam scans across the retina. In contrast to the visible light used in clinical eye examinations, because infrared light is not visible, the participant is not disturbed by the light. OCT imaging allows the capture of hundreds of B-scan (cross-sectional) images in seconds. These B-scans are then stacked to create a volume; the stack may be summed up to create a retinal image. These retinal images are similar to images acquired during retinal photography except that they were captured with infrared light and provide depth information. Each volume and B-scan image can be viewed individually to measure and analyze ocular pathology.
Location
- Duke University Eye CenterDurham, North Carolina