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Justin Yamanuha, Sandra Rocio Montezuma, Geoffrey Emerson; Implications in the management to two family members with retinal degeneration and intermediate uveitis. Invest. Ophthalmol. Vis. Sci. 2020;61(9):PB0056.
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To describe the management of two first degree relatives (Mother and Son) with retinal degeneration and intermediate uveitis. Different genetic mutations and anti-retinal antibodies were identified in each patient.
Retrospective case series. One patient from the University of Minnesota and one from the Retina Center of Minnesota.
Patient #1: A 38-year-old female presented with progressive nyctalopia and peripheral field loss for 10 years. Fundus exam showed peripheral pigmentary changes. Full-field electroretinogram (ERG) was consistent with cone-rod dysfunction. Genetic testing revealed heterozygous mutations of IFT81, AHI1 and RBP3. Anti-Retinal Antibody testing was positive for 40 and 42 kilodalton (KDa) proteins by western blot. Optical Coherence Tomography (OCT) showed parafoveal ellipsoid zone disruption and autofluorescence was reduced in the macula and periphery (Figure 1). Fluorescein angiography (FA) showed peripapillary staining and late vessel leakage consistent with intermediate uveitis. The patient was treated with mycophenolate mofetil 1000 mg daily with stabilization of her Goldmann Visual Field (GVF) and FA at five years.Patient #2: The 15-year-old Son of Patient #1 described difficulty with night vision for several years. Fundus exam showed attenuated retinal vessels and peripheral bone spicules. Full field ERG was consistent with rod-cone dysfunction. Genetic testing showed a heterozygous mutation of ABCA4 and Anti-Retinal Antibody testing identified a 46 KDa protein by western blot. GVF was constricted bilaterally. OCT showed loss of the ellipsoid zones in the parafoveal regions. Autofluorescence was reduced in the periphery (Figure 2) and FA showed late disc staining and peripheral small vessel leakage consistent with intermediate uveitis.
Intermediate uveitis in patients with IRD presents a management challenge. Serum anti-retinal antibodies have been demonstrated in patients with IRD, although it is unclear if they are a cause or consequence of retinal degeneration. In this series, Patient #1 (Mother), demonstrated a benefit of immune modulation, suggesting a potential role for such therapy in slowing the rate of retinal degeneration, perhaps by altering the production of anti-retinal antibodies. Future studies grading retinal vascular leakage and stratifying genotypes may help with the management of patients with IRD and uveitis.
This is a 2020 Imaging in the Eye Conference abstract.
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