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

Description

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.

Conditions

Retinal Dystrophies

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Retinal Dystrophies
Intervention / Treatment

-

Contacts and Locations

Durham

Duke University Eye Center, Durham, North Carolina, United States, 27710

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * 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.
  • * 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.

Ages Eligible for Study

0 Years to 8 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Duke University,

Ramiro Maldonado, MD, PRINCIPAL_INVESTIGATOR, Duke University Eye Center

Study Record Dates

2026-12