Evaluation of subclinical ocular involvement in patients with deficiency of adenosine deaminase 2 (DADA2)

Purpose: To evaluate changes in the peripapillary, macular, and choroidal microvasculature in the eyes of patients with deficiency of adenosine deaminase 2 (DADA2) and no clinical signs of ocular involvement.

Methods: The study included 12 eyes of 12 patients with DADA2 and 24 eyes of 24 healthy subjects. The foveal avascular zone (FAZ), macular vessel densities (VDs) in the superficial and deep retinal capillary plexuses, peripapillary VDs, and choroidal thickness were evaluated by optical coherence tomography angiography (OCTA). Measurements were compared between DADA2 patients and healthy controls.

Results: The median age was 17 (8-25) years in DADA2 patients and 17.5 (7-23) years in control group at the OCTA visit (p = 0.934). FAZ area did not differ between the groups (p = 0.224). In the superficial capillary plexus, whole-image, foveal, and parafoveal VD values were slightly lower in DADA2 patients than in controls (p = 0.054, p = 0.052, p = 0.117). In the deep capillary plexus, whole-image and parafoveal VD values were significantly lower in DADA2 patients than controls (p = 0.010, p = 0.001). VD in the radial peripapillary capillary plexus was also lower in DADA2 patients, with significantly lower peripapillary VD (p = 0.002). Subfoveal choroidal thickness was significantly higher in patients with DADA2 (p < 0.001).

Conclusions: This OCTA study demonstrates that both retinal and choroidal involvement may occur in DADA2 patients before the emergence of evident clinical findings.