Female, 10 years old, diagnosed with Inborn Error of Immunity Predominantly Antibodies, Common Variable Immunodeficiency Phenotype, at 9 years of age.
From the age of 2 months, she presented infectious diseases in the upper and lower respiratory tract, parotid infections, and asthma. Diagnosis is confirmed by: Lack of immunological response to polysaccharide antigens and decreased immunoglobulins 2 SD below the normal level for her age, ruling out other causes.
At the age of 9, she presented unilateral conjunctival hyperemia, photophobia, and foreign body sensation in the right eye.
Ophthalmological examination: Visual acuity in the right eye 20/25. Left eye 20/20, intraocular pressure normal.
Right eye with conjunctival hyperemia at the expense of episcleral vessels in the nasal sector that clarifies with the application of topical phenylephrine, without afferent pupillary defect, normoreflexic pupils. Fundus of eye with applied retina without lesions, hyperemic papilla with blurred edges. Left eye without alterations.
TNSIT Analisys: Right eye: Increased thickness of the optic nerve, predominantly in the upper quadrants 300 microns and lower quadrants 230 microns. Left eye in normal limits. Which reflects asymmetry between both eyes.
OCT . No alterations in the head of the optic nerve, nor in ganglion cells.
Clinically, it presents a picture of recurrent episcleritis and in the event of repeated episodes, it was addressed to identify the most common causes: Infections and autoimmunity. Ruling out infectious process by negative TORCH, negative PPD test. Antinuclear antibodies 1:160
The pediatric rheumatology approach was initiated due to suspicion of vasculitis: HLA B27 negative, anti-neutrophil cytoplasmic antibodies negative, anti-double-stranded DNA antibodies negative, with no other rheumatological manifestations.
For 1 year without presenting new events and under treatment with intravenous immunoglobulin replacement.
It is suggested that episcleritis may be the initial clinical marker of autoimmune diseases in patients with inborn errors of immunity.