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