Ophthalmological and Neurological Findings in Patients with Idiopathic Uveitis Associated with Retinal Vasculitis and the Relation with the HLA DR15 Allele.

PURPOSE: In 15 patients with idiopathic uveitis associated with retinal vasculitis, HLA DRB1 gene testing was performed to detect a possible association. 11 patients tested positive and 4 negative for the HLA DRB1 × 15 allele. The presence of the HLA DRB1 × 15 haplotype might be associated with a higher susceptibility to develop Multiple Sclerosis (MS). METHODS: In this case series, we describe the ophthalmological and neurological findings in 10 HLA DR15-positive patients and 4 HLA DR15-negative patients that had neurological workup, including Magnetic Resonance Imaging (MRI) of the brain. RESULTS: All patients had granulomatous ocular inflammation with either panuveitis or intermediate uveitis. MRI of the brain showed white matter lesions in 13 patients (9/10 and 4/4 respectively) of which 4 patients were eventually diagnosed with MS (3/10 and 1/4 respectively). CONCLUSION: Although the majority of tested patients was carrying at least one HLA DRB1-15 allele, there was no difference in ophthalmological and neurological findings in both groups.

Paradoxical exacerbation of sclerouveitis following Rituximab infusion.

PURPOSE: To report on an unexpected side effect of Rituximab (RTX), a B-cell targeting monoclonal agent, in a patient with severe sclerouveitis, leading to severe visual loss. METHODS: Observational case report. RESULTS: A 61-year-old female was treated with RTX for a severe sclerouveitis occurring with granulomatosis with polyangiitis. Initially it responded partly to high dose of oral corticosteroids, however, her sclerouveitis recurred after two months during tapering below 20mg daily. The days following the RTX infusions, aggravation of the intraocular inflammation was seen, endangering visual acuity. No evidence for an infection or other cause were found. High doses of oral corticosteroids were started within one week, where after the ocular inflammation resolved. For persisting hypotony and chorioretinal detachment a combined pars plana vitrectomy with phacoemulsification and silicone oil tamponade was performed. The retina remained attached under oil tamponade with partial improvement of the BCVA to finger counting. CONCLUSION: Ophthalmologist should be aware of the possibility of this paradoxical local reaction to RTX infusion, particularly in bilateral and/or severe cases, which carry a risk of a poor outcome.

SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.

PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METHODS: Observational case report over a period of 45 years. Examination under anesthesia at the age of 3 months, repeated ophthalmologic examination (age 7, 14, 25, 45 years), fluorescein and indocyanine green angiography, electroretinography, ocular ultrasound, optical coherence tomography, computed tomography scan orbits, and magnetic resonance imaging of the brain. RESULTS: Presentation with severe bilateral posterior eye defects, optic nerve aplasia and a retrobulbar cyst in the left eye, renal abnormalities, and mental retardation. Over time, a progressive axial myopia in the right eye, band keratopathy in the left eye, and progressive bilateral posterior lens opacities were noted. There was only a minor decrease in visual acuity and visual field of the only functional right eye. The mother of this patient had a mild optic disk hypoplasia, progressive lens opacities, and late-onset renal disease. Both had a confirmed mutation in exon 2 of the PAX2 gene. CONCLUSION: This first published long-term follow-up of renal coloboma syndrome shows progressive posterior lens opacities, axial myopia, and band keratopathy with only a small decline in visual function over time.