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Telomere Biology Disorders: Microvascular Abnormalities on Optical Coherence Tomography
Natasha F S DA Cruz1, Jesse D Sengillo2, Catherin I Negron2
1From the Department of Ophthalmology (N.D.C., J.S., C.N., A.B.), Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA.; Department of Ophthalmology, Centro Ocular, Belém, Brazil.
Optical coherence tomography angiography (OCTA) detects widespread retinal microvascular changes in telomere biology disorders (TBDs). This imaging technique is valuable for assessing vascular abnormalities in TBD patients.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Telomere biology disorders (TBDs) are inherited conditions affecting systemic and ocular health.
- Telomere dysfunction underlies TBDs, necessitating better diagnostic tools for ocular manifestations.
Purpose of the Study:
- To investigate the utility of optical coherence tomography angiography (OCTA) in identifying retinal microvascular abnormalities in pediatric patients with TBDs.
Main Methods:
- Retrospective review of electronic medical records and OCTA images from pediatric TBD patients (January 2019 - July 2023).
- Analysis of retinal vasculature for anomalies in both superficial (SVC) and deep (DVC) capillary plexuses.
Main Results:
- 13 eyes from 7 genetically confirmed TBD patients were analyzed.
- All eyes exhibited macular microvascular abnormalities on OCTA.
- Common findings included vascular anastomosis in the SVC (84.6%) and reduced vessel density in the DVC (69.2%).
Conclusions:
- OCTA imaging demonstrates a high prevalence of retinal microvascular abnormalities in TBD patients.
- OCTA serves as a valuable tool for evaluating TBD-associated retinal vascular changes.
