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Published on: April 13, 2015
Telomere Biology Disorders: Clinical and Angiographic Findings
Natasha F S da Cruz1, Jesse D Sengillo1, Serena M Shah1
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
Insights
Widefield fluorescein angiography reveals diverse retinal vascular changes in pediatric patients with telomere biology disorders (TBDs). Early detection via FA is crucial for managing these rare genetic conditions.
Area of Science:
- Ophthalmology
- Genetics
- Vascular Biology
Background:
- Telomere biology disorders (TBDs) are rare genetic conditions affecting cellular aging.
- Ocular manifestations in TBDs are not well-characterized, particularly in pediatric populations.
- Understanding retinal vascular changes in TBDs is essential for comprehensive patient care.
Purpose of the Study:
- To evaluate the retinal vasculature in pediatric patients diagnosed with TBDs.
- To identify specific vascular phenotypes associated with TBDs using widefield fluorescein angiography (FA).
Main Methods:
- Retrospective case series of pediatric patients with genetically confirmed TBDs.
- Analysis of widefield FA images to assess retinal vascular patterns.
- Review of electronic medical records for clinical and genetic data.
Main Results:
- Incomplete peripheral vascularization, aneurysmal dilatation, and anastomotic loops were common findings.
- Capillary dropout and neovascularization were observed in a significant proportion of patients.
- Treatments included laser photocoagulation and intravitreal bevacizumab, often requiring multiple sessions.
Conclusions:
- Widefield FA demonstrates a spectrum of retinal vascular anomalies in pediatric TBD patients.
- These vascular changes, though subtle, warrant further investigation into their etiology.
- Widefield FA is recommended for all patients with confirmed or suspected TBDs.
Purpose:
To evaluate the retinal vasculature in pediatric patients with telomere biology disorders (TBDs).
Design:
Retrospective consecutive case series.
Subjects:
Pediatric patients with a diagnosis of TBD who underwent widefield fluorescein angiography (FA).
Methods:
Electronic medical records of pediatric patients with TBD at a tertiary referral eye center were reviewed from January 2019 to July 2023. Vascular phenotype was assessed by reviewing FA images.
Main Outcome Measures:
Incomplete peripheral vascularization, aneurysmal dilatation, terminal arborization, anastomotic loops, capillary dropout, neovascularization, tortuosity, leakage from tractional membranes, and blockage from hemorrhage.
Results:
Fourteen eyes from 7 patients were included. All patients were genetically confirmed for TBD. The most common genetic variants were in CTC1 (5 patients; 71.4%), ACD (1 patient; 14.3%), and RTEL1 (1 patient; 14.3%). On FA, the most common findings were incomplete peripheral vascularization (14 eyes, 100%), aneurysmal dilatation (12 eyes, 85.7%), terminal arborization (12 eyes, 85.7%), anastomotic loops (12 eyes, 85.7%), capillary dropout (10 eyes, 71.4%), and neovascularization (9 eyes, 64.3%). Regarding treatment, laser photocoagulation (14 eyes, 100%), intravitreal bevacizumab injection (13 eyes, 92.6%), and subtenon's Kenalog (11 eyes, 78.6%) were utilized. All patients managed with laser photocoagulation and bevacizumab required multiple treatments.
Conclusions:
Our study describes a spectrum of vascular changes evidenced by widefield FA in pediatric patients with genetically confirmed TBD. Although further research is warranted to fully understand the etiology of these subtle vascular anomalies, widefield FA should be conducted in patients with genetically confirmed or suspected TBD.
Financial Disclosure(S):
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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