A 12-year-old Hispanic female presented to the uveitis clinic seeking second opinion for treatment of intermediate uveitis 4 years ago. Patient had already been treated with several immunosuppressive agents and biologics without any significant change in her vision. The cystoid macular edema and the retinal vascular leakage on fluorescein angiography didn’t change despite aggressive immunosuppression with systemic steroids, conventional immunosuppressive agents and biologics and also one-time subtenon steroid injection in the left eye. Patient was kept on methotrexate and adalimumab –her last immunosuppressive regimen started a month before her first visit in BPEI. Her workup was continued with MRI and additional blood work to look for possible undetected uveitis origin and all were negative.
Patient was suspected of IRD after failure of continued trial of immunosuppression and underwent ERG test. ERG demonstrated severe reduction of rod and cone response in both eyes. Her genetic test with MVL panel disclosed compound heterozygote CRB1 gene mutations. Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis. The mutations in this gene has been reported with macular retinoschisis as well. Our report presents one of the rare clinical features associated with IRD. An early diagnosis of IRD may result in more adequate treatment with avoidance of high dose immunosuppression, which may have significant side effects.
Presentation Date: 11/21/2019
Issue Date: 08/01/2020