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A Quick Guide to Pediatric RetinaFamilial Exudative Vitreoretinopathy or Retinopathy of Prematurity

A Quick Guide to Pediatric Retina: Familial Exudative Vitreoretinopathy or Retinopathy of... [Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) can have very similar clinical presentations. Both diseases have abnormal development of retinal vessels and lead to severe vitreoretinopathy which causes blindness in newborn infants. The single most important difference is prematurity. In ROP, the most important risk factors are gestational age and low birth weight. In FEVR, it is the genetic mutation. Identifying the underlying mutations in the causative gene can predict the prognosis of patients with FEVR. ROP tends to resolve naturally or with treatment, but FEVR is a lifelong disease. Even we know that the clinical characteristics and risk factors between both diseases are different; the clinical similarity makes differential diagnosis difficult, especially in FEVR patients who were born prematurely. In such a scenario, patients could exhibit features of FEVR or ROP or both and found to have a discrepancy between birth history and fundus appearance, thus ROPER/fROP was used to describe these patients under such conditions.] http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png

A Quick Guide to Pediatric RetinaFamilial Exudative Vitreoretinopathy or Retinopathy of Prematurity

Editors: Wu, Wei-Chi; Lam, Wai-Ching
Amphornphruet, Atchara; Berrocal, Audina M.
A Quick Guide to Pediatric Retina — Jan 19, 2021
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References (29)

Publisher
Springer Singapore
Copyright
© Springer Nature Singapore Pte Ltd. 2021
ISBN
978-981-15-6551-9
Pages
53 –58
DOI
10.1007/978-981-15-6552-6_7
Publisher site
See Chapter on Publisher Site

Abstract

[Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) can have very similar clinical presentations. Both diseases have abnormal development of retinal vessels and lead to severe vitreoretinopathy which causes blindness in newborn infants. The single most important difference is prematurity. In ROP, the most important risk factors are gestational age and low birth weight. In FEVR, it is the genetic mutation. Identifying the underlying mutations in the causative gene can predict the prognosis of patients with FEVR. ROP tends to resolve naturally or with treatment, but FEVR is a lifelong disease. Even we know that the clinical characteristics and risk factors between both diseases are different; the clinical similarity makes differential diagnosis difficult, especially in FEVR patients who were born prematurely. In such a scenario, patients could exhibit features of FEVR or ROP or both and found to have a discrepancy between birth history and fundus appearance, thus ROPER/fROP was used to describe these patients under such conditions.]

Published: Jan 19, 2021

Keywords: Familial exudative vitreoretinopathy (FEVR); FZD4; LRP5; Retinopathy of prematurity (ROP); ROPER; TSPAN12; Win pathway; ZNF408

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