The authors report a series of 16 cases of familial exudative vitreoretinopathy (FEVR) in Northern Ireland (NI) to characterise the genetic patterns and identify other common characteristics relevant for current and future practice. This was a retrospective study including 12 males and four females with average age at presentation of 11.8 years (4 months to 38 years). Stage of disease was inversely correlated with age at presentation with those having advanced disease presenting at a younger age. Ten had asymmetrical disease. Genetic testing was done in 14 cases with a causative gene identified in seven (F2D7, NDP, TSPAN12 or KIF11). Associated ocular disease included amblyopia, anisometropia, chorioretinal atrophy, microphthalmia, strabismus, glaucoma, and cataract. Three had associated systemic health problems. Follow-up was on average 8.76 years (0.5 to 29 years). Six had disease progression over follow-up. Seven patients needed treatment to control the disease. This series confirms the heterogeneity of FEVR disease both clinically and genetically. An estimated prevalence of FEVR in NI was calculated as at least 0.84 per 100,000 population. This is likely to increase with greater use of wide-field retinal imaging. Given the wide age range and variance from mild, asymptomatic disease, the authors urge caution when investigating older adults with unexplained vitreous haemorrhage or retinal tear to consider potential for FEVR as an underlying cause. Genetic causes are to be considered where there are systemic and other ocular features.
FEVR characteristics
Reviewed by Fiona Rowe
Reaching a FEVR pitch: a case series of familial exudative vitreoretinopathy in Northern Ireland.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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