Wnt signaling pathway in retinal vascularization

Kimberly A Drenser Associated Retinal Consultants, Royal Oak, MI, USA Abstract: Wnt-signaling, a ubiquitous pathway that directs differentiation, cell polarity, and tissue specificity, has been implicated as an important gene-expression pathway in retinal development. An increasing body of evidence supports the importance of Wnt-signaling, and specifically, norrin-mediated Wnt-signaling in retinal development and retinal maintenance. Gene mutations affecting the Wnt-signaling pathways result in a variety of inherited vitreoretinopathies. Additionally, there is growing evidence that prematurity and associated retinopathy are associated with alterations in the Wnt-signaling pathways. Further investigations may allow for improved diagnoses, management, and therapies in the future. Keywords: Wnt, norrin, angiogenesis, development, ROP, prematurit

Familial Exudative Vitreoretinopathy or Retinopathy of Prematurity

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