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Alexander Loewner Pleet, Andrew W Francis, Felix Yan-Fay Chau; Familial Exudative Retinopathy: A Case Series. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2042.
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© 2017 Association for Research in Vision and Ophthalmology.
Familial exudative vitreoretinopathy (FEVR) is an uncommon eye disorder affecting the growth and development of retinal vasculature. It can lead to visual impairment and sometimes complete blindness if left untreated. Given its rarity, knowledge of FEVR is limited to a handful of retrospective single center studies. The purpose of this retrospective, non-randomized case series is to describe the clinical characteristics, staging, and medical/surgical management of patients with FEVR at the University of Illinois at Chicago (UIC) in order to add to the collective data on FEVR and better understand the manifestations and natural history of this vision-threatening disorder.
Through a search of the electronic clinical database at UIC, study patients between age 0 to 65 years with a clinical diagnosis of FEVR were identified and included. Exclusion criteria included any other significant retinal disease or absence of fundus photography for clinical staging. For all included patients, clinical information was recorded including age at diagnosis, gender, eyes affected, family history, genetics where possible, FEVR stage, and treatment. Staging was accomplished by examination of fundus photography or RetCam images by a single retina specialist.
A total of 23 patients met the inclusion criteria for FEVR (4 adults, 19 children). Twelve patients were male and 11 were female. The mean age of adults was 38 years ± 7 and for children was 3 years ± 4. A family history of FEVR was identified in 11 patients (48%). A review of fundus photographs revealed the median stage of FEVR for all patients was 2.5 OD and 2.0 OS. Genetic testing identified two patients with a Norrie gene mutation and both underwent complex surgical repair.Regarding management, 8 patients (35%) required observation only (16 eyes, mean stage 1.4). A total of 15 patients required surgical or laser intervention. Peripheral laser ablation was the sole procedure applied to 3 patients (5 eyes, mean stage 3). Pars plana vitrectomy or scleral buckle placement were necessary for the remaining 12 patients (17 eyes, mean stage 4).
In this retrospective review of all FEVR cases at UIC, FEVR presents in variable stages and is managed according to disease severity, from simple observation in mild forms to laser and invasive surgery for progressively more severe forms. Genetic testing may reveal known or new mutations in associated genes to help confirm the diagnosis of FEVR.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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