RecruitingNot ApplicableNCT06177977

SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)

Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)

Sponsor

Duke University

Enrollment

80 participants

Start Date

Mar 1, 2024

Study Type

INTERVENTIONAL

Conditions

Retinal Dystrophies

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.

Eligibility

Min Age: 0 YearsMax Age: 8 Years

Inclusion Criteria11

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-trans which meet the phenotype.
X-linked gene: one pathogenic or likely pathogenic variant which meets the phenotype.
For Controls (Group 3): No evidence of retinal pathology

Exclusion Criteria7

For all participants:
Parent/legal guardian unwilling or unable to provide consent
Refractive error higher than 6.00 diopters
Participant has media opacities that preclude imaging
Any non-IRD ocular condition that confound results interpretation such as glaucoma, uveitis, neurologic conditions affecting the optic nerve, etc.
For EORD participants (Groups 1-2): Does not meet molecular diagnosis criteria
For Controls (Group 3): Any suspicion of IRD

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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.