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Title

FEVR gene mutation in a patient with stage 5 retinopathy of prematurity

Purpose	To investigate the link between familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP) by means of a case report
Methods	Case report and literature review
Results	We describe a female neonate with a gestational age of 24 weeks who was referred to our clinic because of progression to a stage 5 ROP in only two weeks’ time. Clinical examination showed a buphthalmic eye, high IOP and a funnel shaped retinal detachment with remarkable exudation in both eyes. Given this clinical image and fast progression to a total retinal detachment, a blood sample for genetic testing was performed. This revealed a heterozygous deletion of the FZD4 gene and confirmed the genetic diagnosis of FEVR. The pathogenesis and clinical image of ROP and FEVR is very similar. FEVR is known to be a hereditary condition in full-term born children, while ROP is a multifactorial disease caused by prematurity and environmental factors. Recent research with twin studies, however, also shows a large contribution of genetics in the development of ROP. In a small number of severe ROP, mutations in FEVR genes are found, which shows evidence for a common signaling pathway (Wnt/beta-catenin) that can lead to both FEVR and ROP.
Conclusion	It is difficult to distinguish ROP from FEVR in premature infants, but since there is a common signaling pathway, it is plausible that in this case there is an overlap between these two diseases. It may be indicated to screen for mutations in FEVR genes in neonates with severe and rapid progression of ROP, because it can have important implications for the patient itself and other family members. Further genetic research is definitely recommended to fully understand the pathophysiology of ROP.
Conflict of interest	No

Authors 1

Last name	VANHONSEBROUCK
Initials	E
Department	UZ Gent
City	Gent

Authors 2

Last name	NERINCKX
Initials	F
Department	UZ Gent
City	Gent