HIGHLIGHTS
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Superficial retinal layers in TBDs show vessel anastomosis as a common OCTA finding.
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Deep retinal layers exhibit reduced vessel density, that could be linked to hypoxia and tissue damage.
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Insights highlight telomere dysfunction’s impact on retinal vasculature and structural integrity.
Background and Objective
Telomere biology disorders (TBDs) are inherited conditions caused by telomere dysfunction, impacting systemic and ocular health. We aim to explore the role of optical coherence tomography angiography (OCTA) in identifying retinal microvascular abnormalities in TBDs.
Design
Retrospective case series.
Methods
The electronic medical records of pediatric patients with TBD at a tertiary referral eye center were reviewed from January 2019 to July 2023. OCTA images were reviewed for anomalies of the retinal vasculature.
Results
In total, 13 eyes of 7 patients were included in the study. All patients were genetically confirmed to have TBD. The most common genetic variants were CTC1 (5 patients; 71.4%), ACD (1 patient; 14.3%) and RTEL1 (1 patient; 14.3%). On OCTA, all 13 eyes showed some degree of macular microvascular abnormality in both the SVC and DVC. The most common microvascular abnormality seen in the SVC was blood vessels anastomosis (11; 84.6%), and in the DVC was decreased vessel density (9; 69.2%).
Conclusions
OCTA imaging reveals a high prevalence of microvascular abnormalities in patients with TBD, highlighting its potential role in assessing retinal vascular changes associated with the disease.
BACKGROUND
T elomere biology disorders (TBDs) encompass a diverse group of inherited conditions characterized by aberrations in telomere length and function, critically influencing cellular proliferation, genomic stability, and cellular health. These disorders manifest across a spectrum of systemic phenotypes, ranging from bone marrow failure syndromes such as dyskeratosis congenita to pulmonary fibrosis, liver cirrhosis, and an increased predisposition to neoplasia. ,
Ocular findings can manifest as a spectrum of abnormalities. Within the retina, TBDs can lead to various vascular abnormalities that may contribute to vision impairment over time. These include retinal telangiectasia, exudative retinopathy, neovascularization, and retinal detachments. Fluorescein angiography (FA) also revealed vascular abnormalities as incomplete peripheral vascularization, aneurysmal dilatation, terminal arborization, anastomotic loops and capillary dropout.
In recent years, the advent of high-resolution imaging techniques such as optical coherence tomography angiography (OCTA) has revolutionized our understanding of retinal vascular pathology, especially at the capillary level. However, challenges with image acquisition have limited OCTA’s use in young children. Recent advancements in OCTA for various inherited retinal disorders have enabled its application in the operating room, particularly during examinations under anesthesia (EUAs), which are performed for imaging in young children. With its capability to provide depth-resolved visualization of retinal vascular complexes, OCTA holds promise for enhancing our understanding of TBDs. For this reason, we aim to explore the role of OCTA, a noninvasive imaging modality, in elucidating microvascular retinal changes in TBDs.
METHODS
This study was a retrospective analysis of patients with genetically-confirmed TBD that underwent prospective imaging with supine OCTA during examination under anesthesia at Bascom Palmer Eye Institute from January, 2019 to July, 2023. This study was approved by the University of Miami institutional review board and adhered to the tenets of the Declaration of Helsinki. Informed consent was obtained from the patients’ parents. The inclusion criteria included a diagnosis of TBD and genetic testing showing a mutation in a gene that has previously been linked to the development of TBD. The diagnosis was determined by a pediatric retinal specialist (A.M.B.) based on clinical diagnostic criteria, which included exudative retinopathy, neovascularization, incomplete peripheral vascularization and retinal vascular abnormalities such as telangiectasias and terminal arborization of vascular branches. The exclusion criteria were media opacity that might compromise the acquisition of high-quality images.
OCTA images were obtained using investigational Spectralis HRA + OCT with Flex and OCTA modules (Spectralis; Heidelberg Engineering, Germany). For all eyes imaged, a 10 × 10° (∼2.9 × 2.9 mm 2 ) image comprised of 512 A-scans per B-scan and 512 B-scans (5.7-mm/pixel resolution) of the macula was captured. A trained grader (G.O., ophthalmic photographer) reviewed the automated segmentation of the retinal layers and manually corrected the segmentation if needed.
The OCTA images were qualitatively analyzed (A.M.B., N.F.S.C., and J.D.S.) to determine the presence or absence of an abnormal FAZ, decreased vessel density, vessel straightening, vessel anastomoses, presence of terminal bulbs, and presence of capillary loops. The appearance of FAZ was described as abnormal if the FAZ was not recognized or if any vessel aberrantly crossed within the FAZ area. Additional data collection included age, sex, medical history, ophthalmic examination, genetic testing, and prior treatments. The data obtained from the medical records and the OCTA images were analyzed using standard statistical testing on SPSS Statistics (IBM, Armonk, NY). Statistical significance was defined as P < .05.
RESULTS
This study included 13 eyes of 7 patients with a mean age at diagnosis of 2.7 years (range 0.5–9 years). Six of 7 patients (85.7%) were male. TBD genotypes included CTC1 (5/7; 71.4%), ACD (1/7; 14.3%) and RTEL1 ( 1/7; 14.3%).
One eye was excluded for poor quality images insufficient for OCTA analysis, due to retinal detachment. Macular microvascular abnormalities were found in all 13 eyes (100%), with each showing abnormalities in the Deep Vascular Complex (DVC) and in the Superficial Vascular Complex (SVC). The most common microvascular abnormality seen in the SVC was anastomosis (11/13 eyes, 84.6%). The most common abnormality in the DVC was decreased vessel density (9/13 eyes, 69.2%). Other SVC abnormalities included small, large, or non-detectable Foveal Avascular Zone (FAZ); arborization of vessels; vascular loops; and tortuosity. Other DVC abnormalities included vascular loops; bulb-shaped endings; increased area of vessel density; and vessel straightening or dragging. OCT also identified schisis-like splitting of inner retinal layers in 3/13 eyes (23.1%) and cystoid macular edema in 2/13 eyes (15.4%) ( Figures 1-4 ).
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