In a retrospective chart review of 273 eyes in 145 patients, Ranchod et al described the clinical presentation of FEVR patients.[41] The mean age at presentation was 58.6 months. [eyewiki.aao.org]

• Asymptomatic

  Molecular analysis demonstrated a mutation of FZD4 in DNA from both the patient and his asymptomatic mother. [pubmed.ncbi.nlm.nih.gov]

  In the study, 3 eyes of 4 patients who were asymptomatic to the age of 15 had a final visual acuity of counting fingers or worse. [eyewiki.aao.org]

• Strabismus

  J Pediatr Ophthalmol Strabismus. 2016 Jul 30;53:e39-42. doi: 10.3928/01913913-20160719-02. J Pediatr Ophthalmol Strabismus. 2016. PMID: 27486893 Review. [pubmed.ncbi.nlm.nih.gov]

  Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil. [medlineplus.gov]

• Retinal Hemorrhage

  Rapid regression of retinal hemorrhage and neovascularization in a case of familial exudative vitreoretinopathy treated with intravitreal bevacizumab. [eyewiki.aao.org]

• Retinal Damage

  The resulting abnormal blood supply to this tissue leads to retinal damage and vision loss in some people with familial exudative vitreoretinopathy. [medlineplus.gov]

• Fracture

  Some people with familial exudative vitreoretinopathy also have reduced bone mineral density, which weakens bones and increases the risk of fractures. Frequency The prevalence of familial exudative vitreoretinopathy is unknown. [medlineplus.gov]

• Long Arm

  The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. Am J Ophthalmol. 1992;113(6):712-3. ↑ Li Y, Müller B, Fuhrmann C, et al. [eyewiki.aao.org]

We also report our outcomes in early treatment of this inherited disorder. Methods: Retrospective interventional and descriptive case series of 11 patients (17 eyes) affected by FEVR evaluated and treated in our hospital. [semanticscholar.org]

An examination under anesthesia may be required for diagnosis, imaging acquisition, and treatment. [eyewiki.aao.org]

It was found that patients who were diagnosed before the age of 3 had a more severe clinical course with very poor visual prognosis. The most rapid progression is generally seen in children and adolescents. [eyewiki.aao.org]

[…] at least 10 genes have been implicated in association with FEVR including FZD4,[6][7] NDP,[8][9] LRP5, [7][10][11] TSPAN12,[12][13][14] ZN408, [15] KIF11,[16][17] [18][19]CTNNB1,[20][21] JAG1,[22] RCBTB1,[23] ATOH7,[24] DOCK6,[25] and ARHGAP31.[25] Epidemiology [eyewiki.aao.org]

Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management. Asia Pac J Ophthalmol (Phila). 2018 May-Jun;7(3):176-182 ↑ 50.0 50.1 50.2 Nikopoulos K, Venselaar H, Collin RWJ, et al. [eyewiki.aao.org]

Mukai Medicine International ophthalmology clinics 1993 Early detection of familial exudative vitreoretinopathy plays an important role on preventing the progression of the diseases and improving the vision of patient and his/her family. [semanticscholar.org]

The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue. The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. [medlineplus.gov]