Retinal and Choroidal Circulation Impairments in Fanconi Anemia.

OBJECTIVE

To evaluate the effects of Fanconi anemia (FA) on retinal and choroidal microvasculature using Optical Coherence Tomography (OCT) and Optical Coherence Tomography Angiography (OCTA).

DESIGN

Cohort study with age-matched controls.

SUBJECTS AND PARTICIPANTS

This study included 11 eyes from 11 patients diagnosed with FA and 12 eyes from 12 age-matched healthy controls.

METHODS

Comprehensive ophthalmic examinations included best-corrected visual acuity (BCVA), intraocular pressure measurements, and OCT/OCTA imaging. Central macular thickness (CMT), subfoveal choroidal thickness (SCT), retinal nerve fiber layer (RNFL) thickness, and choroidal vascularity index (CVI) were measured using OCT. Superficial, deep, and choriocapillaris vessel density, foveal avascular zone (FAZ) parameters, along with radial peripapillary capillary plexus perfusion (RPCPD) and flux index (RPCFI), were assessed using OCTA. Statistical analyses were performed to compare both groups, with adjustments for axial length.

MAIN OUTCOME MEASURES

Retinal and choroidal microvascular parameters, including CMT, SCT, RNFL thickness, CVI, vessel density, RPCPD, RPCFI and FAZ parameters.

RESULTS

There was no significant difference in age or gender distribution between the FA and control groups (P = .98, P = .80, respectively). The mean age of FA patients was 19.6 ± 11.3 years (range: 6-43), while the mean age of controls was 19.4 ± 10.4 years (range: 8-40). FA patients exhibited significantly reduced SCT (252 ± 72 µm vs. 368 ± 93 µm, P = .004) compared to controls. Vessel density in the superficial and deep capillary plexuses were significantly lower in FA patients (P = .042 and P = .019, respectively). Temporal (45.2 ± 2.3% vs. 48.8 ± 2.8%, P = .047) and outer (43.6 ± 1.7% vs. 45.8 ± 1.3% P = .037) RPCPD and temporal (0.43 ± 0.03 vs. 0.47 ± 0.02, P = .040) and outer (0.41± 0.02 vs. 0.46± 0.02, P = .010) RPCFI were notably reduced in FA group. CVI was comparable between groups (P = .857), despite smaller luminal and total areas in FA patients.

CONCLUSIONS

Fanconi anemia has a profound impact on retinal and choroidal microcirculation, characterized by reduced microvascular densities in the capillary plexi, a lower flux index in the optic nerve head, and thinning of the choroid, even in the absence of visible fundus abnormalities. These findings highlight the significant vascular effects of FA, affecting both the structural integrity and functional capacity of the retina and choroid.