A 38-year-old mother and her two children, a boy aged 10 years and a girl aged 5 years, were referred with eye and joint symptoms present over several years. The mother was first seen by us 12 years ago with granulomatous uveitis and arthritis. She reported a history of childhood onset arthritis. Right eye vision was 3/60, N36, with active panuveitis in the right eye and no perception of light in the left eye. She had associated secondary glaucoma. She was suspected to have JIA-associated uveitis and was treated with systemic and topical steroids. She developed secondary glaucoma and was started on topical anti-glaucoma medication. At 1-year follow-up, when her inflammation was under control, she had developed complicated cataract with glaucoma and underwent phacoemulsification with intraocular lens in the bag implantation with trabeculectomy. Post-operatively she had significant inflammation with multiple recurrences and a granulomatous type of uveitis, which was treated with a further course of systemic steroids and methotrexate. She was found to have choroidal granuloma in her right eye [Fig. 1b]. She was suspected to have sarcoid-related uveitis and was started on methotrexate. Rheumatological examination revealed very deforming arthritis of the small joints of her hands with flexion contractures at the proximal interphalangeal (PIP) joints [Fig. 2]. Her systemic and ocular inflammation resolved. At follow-up her uveitis and intraocular pressure (IOP) was under control, with vision in the right eye of 6/9, N6 maintained on topical non-steroidal anti-inflammatory drugs (NSAIDs) and weekly methotrexate.
The first child, a boy now 10 years, presented at 5 years of age with bilateral eye pain, occasional redness, and diminished vision. His vision was 6/12, N12 in both eyes and he had bilateral intermediate uveitis. He had a history of arthritis of both wrists and small joints of hands since the age of 4 years. Both the mother and the boy were diagnosed as juvenile idiopathic arthritis with uveitis and the boy was also commenced on tapering dose schedule of topical and oral steroids along with methotrexate. He had experienced multiple recurrences and was treated with appropriate anti-inflammatory therapy during the episodes. Currently, his inflammation is under control, maintaining vision of 6/6p, N6 in both eyes with topical NSAIDs and methotrexate.
The second child, a girl now 5 years, presented at 3 years of age with bilateral granulomatous anterior uveitis with conjunctival cysts. Anterior chamber tap for mycobacterium tuberculosis polymerase chain reaction (PCR) was negative. On musculoskeletal examination she was noticed to have boggy swelling of wrists [Fig. 2], knees, and ankles bilaterally. She had dry scaly rash.
Considering the signs and symptoms in the child, her brother, and mother, an early onset sarcoidosis or BS was considered as a possible diagnosis. She was started on methotrexate and her inflammation resolved with additional course of topical steroids. She is currently on methotrexate along with topical NSAIDs and currently her inflammation is under control.
All three patients were RF, ANA, and HLAB27 negative. Chest X-ray was normal and Mantoux was negative. Angiotensin-converting enzyme (ACE) levels were also within normal limits. Genetic studies to confirm BS was done using a next-generation sequencing panel which identified all the three patients to carry a c. 1000C >T/p. Arg334Trp (R334W) heterozygous variant in the NOD2 gene. This is a previously reported recurrent mutation. All three patients are on regular follow-up with methotrexate, topical NSAIDs, and lubricants.