Retinal and Choroidal Circulation Impairments in Fanconi Anemia

Area of Science:

• Ophthalmology
• Genetics
• Vascular Biology

Background:

• Fanconi anemia (FA) is a rare genetic disorder with multisystemic effects.
• Ocular manifestations of FA are not well-characterized, particularly concerning microvasculature.

Purpose of the Study:

• To investigate the microvascular changes in the retina and choroid of patients with Fanconi anemia using advanced imaging techniques.
• To compare these microvascular parameters with age-matched healthy controls.

Main Methods:

• A cohort study involving 11 patients with FA and 12 age-matched healthy controls.
• Comprehensive ophthalmic examinations including Optical Coherence Tomography (OCT) and OCT Angiography (OCTA).
• Measurements included central macular thickness, subfoveal choroidal thickness, retinal nerve fiber layer thickness, choroidal vascularity index, vessel densities, and optic nerve head perfusion parameters.

Main Results:

• Patients with FA showed significantly reduced subfoveal choroidal thickness (SCT) compared to controls.
• Significantly lower vessel density was observed in the superficial and deep capillary plexuses of FA patients.
• Reduced perfusion and flux index were noted in the radial peripapillary capillary plexus in the FA group.

Conclusions:

• Fanconi anemia significantly affects retinal and choroidal microcirculation.
• Characterized by reduced microvascular densities and choroidal thinning, even without apparent fundus abnormalities.
• These findings underscore the systemic vascular impact of FA on ocular tissues.