A 14-year-old white boy presented to the St. Louis Children's Hospital Emergency Department with primary complaints of fever, arthritis, and flu-like symptoms of one week's duration. He had been diagnosed 3 years prior with HIDS after a long history of similar presentations. Laboratory examination at this visit revealed IgD levels to be 265 IU/ml (upper limit of normal <100 IU/mL). Genetic testing subsequently established he was a compound heterozygote for two common mutations in the MVK gene, V377I in exon 10 and I268T in exon 8 (GeneDx, Inc, Gaithersburg, MD). At the time of our initial encounter, he was being followed by a rheumatologist. His flares were managed with ibuprofen as needed.
His ocular history was significant for multiple episodes of "eye inflammation" that occurred in conjunction with his febrile attacks. In the past, he had been told he likely had conjunctivitis secondary to viral illness; however he had not been evaluated by an ophthalmologist. During this presentation we were consulted for his new complaint of photophobia and ocular irritation. At our initial exam, visual acuity was 20/50 in the right eye and 20/40 in the left. Both eyes had conjunctival injection on external examination. Slit-lamp exam revealed multiple punctate anterior corneal stromal opacities with active peripheral corneal stromal keratopathy consistent with sterile inflammatory nummular keratitis. We prescribed topical prednisolone acetate and cyclopentol 1% to treat the inflammation and photophobia.
At follow-up one week later, our patient exhibited a robust response to topical corticosteroids. Both his photosensitivity and nummular keratitis had improved, although his visual acuity remained unchanged. Over the subsequent year, our patient had multiple, similar presentations to our office. His exam routinely consisted of photophobia, conjunctival injection and nummular keratitis which occurred in conjunction with arthritis and fever. His ocular inflammatory symptoms resolved quickly with topical prednisolone acetate and cyclopentol 1%.
Despite a satisfactory inflammatory response to topical corticosteroid, with each successive flair-up of disease our patient had progressive corneal scarring and worsening of his vision. Approximately 1 year after our initial encounter, the decision was made to begin treatment with simvastatin (10 mg/day). We saw him once while on this treatment regimen; he was still experiencing disease flairs, elevated laboratory values (ESR = 39 mm/h, CRP = 20.5 mg/L), and ocular complaints. He noted photophobia, intermittent pain and redness and decreased visual acuity.
Despite this regimen, he eventually developed a large central corneal scar in the right eye located in the region of recurrent keratopathy. Visual acuity in this eye consequently decreased to 20/80. At this point, his rheumatologists began infliximab infusions (7.8 mg/kg for a total of 600 mg) every 8 weeks. Due to concern that his severe arthritis may lead to permanent joint damage, weekly methotrexate (20 mg) was also a part of his regimen.
After eight cycles of therapy, his ocular exam was remarkably improved. He no longer complained of photophobia. On exam, both eyes had clear conjunctiva, the central corneal opacities had resolved, and despite residual corneal scarring, his uncorrected visual acuity had returned to 20/20 in both eyes [see Additional file 1
]. He no longer needed artificial tears and reported no ocular complaints since initiation of infliximab 12 months prior.