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Familial Exudative Vitreoretinopathy

FEVR


Presentation

  • Eyes with invasive posterior segment procedures before initial presentation were excluded. MAIN OUTCOME MEASURES: Demographics on presentation and clinical staging.[ncbi.nlm.nih.gov]
  • In addition, the youngest family member, a 9-year-old boy, who presented with bilateral tractional retinal detachment, and his mother, who presented with retinal pigmentary alterations and bilateral dragging of the macula and atrophy, both harboured the[ncbi.nlm.nih.gov]
  • Segregation analysis in the unaffected parents using Sanger sequencing suggested the variant to be present in a mosaic state in the unaffected mother.[ncbi.nlm.nih.gov]
  • The authors present a case of a 29-year-old man who presented to the Department of Ophthalmology at their institution to complete a peripheral laser treatment in his left eye for familial exudative vitreoretinopathy complicated by tractional macular edema[ncbi.nlm.nih.gov]
  • Findings in five affected members of a family in which the X-linked mode of inheritance of familial exudative vitreoretinopathy is present are discussed.[ncbi.nlm.nih.gov]
Lymphedema
  • Abstract KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR).[ncbi.nlm.nih.gov]
  • IMPORTANCE: Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal[ncbi.nlm.nih.gov]
  • Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.[eyewiki.aao.org]
Fishing
  • Genetic screening was done by chromosomal microarray analysis and confirmed by fluorescent in situ hybridization (FISH). Bilateral macular folds were found with temporal fibrosis in the proband.[ncbi.nlm.nih.gov]
Plethora
  • Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis.[ncbi.nlm.nih.gov]
Osteopenia
  • In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis.[ncbi.nlm.nih.gov]
  • Utility: Poor vascularization of the peripheral retina seen on fundus fluorescein angiography Vision loss in addition to retinal detachment, dragged macula, neovascularization, whiteness of the pupil (leukocoria), intraretinal hemorrhage and exudation Osteopenia[genedx.com]
  • Although they showed no signs of reduced bone mass clinically, the reduced BMD suggested osteopenia of these patients and their affected parents.[molvis.org]
Severe Osteoporosis
  • Since one of the genes so far identified, LRP5, is also causing the osteoporosis-pseudoglioma syndrome, an inherited disorder with severe osteoporosis, we would also like to know if FEVR patients, especially those with mutations in LRP5 also have some[clinicaltrials.gov]
  • Since early childhood, the patient suffered from severe osteoporosis and showed reduced bone mineral density (BMD) on sequential densitometries, sustaining spontaneous fractures of the lower limbs.[scielo.br]
Suggestibility
  • Together, our data strongly suggest that mutant ZNF408 results in abnormal retinal vasculogenesis in humans and is associated with FEVR.[ncbi.nlm.nih.gov]
  • The luciferase assay demonstrated that all four of these LRP5 mutations led to significant reduction of enzymatic activity with response to NORRIN, suggesting that they are pathogenic.[ncbi.nlm.nih.gov]
  • These data suggest that the above loci are probably not involved in determining the FEVR pathology.[ncbi.nlm.nih.gov]
  • Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes. The microphthalmic right eye was unsalvageable.[ncbi.nlm.nih.gov]
  • Neither of the heterozygous parents has ocular manifestations of the disease, suggesting a classic recessive mendelian pattern of inheritance.[ncbi.nlm.nih.gov]

Workup

  • Evaluating TSPAN12 large deletions and duplications should be considered in FEVR screening and diagnosis as well as in routine genetic workups for FEVR patients.[ncbi.nlm.nih.gov]
  • These patients are often family members of a patient with advanced disease, who are identified during the screening workup for suspected FEVR.[reviewofophthalmology.com]
Increased Bone Density
  • Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.[ncbi.nlm.nih.gov]

Treatment

  • Intravitreal injection of pegaptanib sodium is a potential treatment option for patients with FEVR and worsening exudation despite treatment with standard therapy.[ncbi.nlm.nih.gov]
  • Lithium treatment also substantially increased vascular tubular formation in LRP5-deficient endothelial cells.[ncbi.nlm.nih.gov]
  • The pathophysiologic mechanism, natural history, and optimal treatment of this disease are matters of debate. With active surgical management, three of the four eyes which presented to us for treatment have visual acuity of 20/30 or better.[ncbi.nlm.nih.gov]
  • The current treatment paradigm involves laser photocoagulation of the avascular peripheral retina for neovascular sequelae and vitreoretinal surgery for progressive retinal detachment.[ncbi.nlm.nih.gov]
  • The authors present a case of a 29-year-old man who presented to the Department of Ophthalmology at their institution to complete a peripheral laser treatment in his left eye for familial exudative vitreoretinopathy complicated by tractional macular edema[ncbi.nlm.nih.gov]

Prognosis

  • The prognosis for infants with FEVR is extremely poor and the long-term prognosis for patients with a later onset of the condition is guarded.[ncbi.nlm.nih.gov]
  • Prognosis The clinical presentation of FEVR is highly variable. The usual course of the disease has not been well established making the prognosis difficult to ascertain. Progressive loss of vision is reported in severe cases.[orpha.net]
  • The data further enrich the mutation spectrum of FEVR and enhance our understanding of genotype-phenotype correlations to provide useful information for disease diagnosis, prognosis, and effective genetic counseling.[ncbi.nlm.nih.gov]
  • Cases of FEVR should be carefully inspected for the presence of microcephaly as a marker for KIF11-related disease to enhance the accuracy of the prognosis and genetic counseling.[ncbi.nlm.nih.gov]
  • Diagnosis and Prognosis: The diagnosis can only be made by an ophthalmologist by direct examination of the eye. The prognosis is unpredictable for some patients have minimal or no symptoms while other eyes become blind.[disorders.eyes.arizona.edu]

Etiology

  • Etiology Mutations in the FZD4 (11q14-q21) or LRP5 (11q13.4) genes have been associated with autosomal dominant FEVR as well as ZNF408 (11p11.2). LRP5 has also been associated with recessive cases.[orpha.net]
  • Etiology and pathogenesis FEVR primary pathology is a premature arrest of retinal vasculogenesis, leading to incomplete vascularisation of the peripheral retina. The secondary complications are mainly due to retinal ischemia.[institut-vision.org]
  • Keywords: Osteoporosis/complications; Vitreoretinopathy, proliferative; Retinopathy of prematurity; Eye diseases, hereditary/etiology; Fluorescein angiography; Fundus oculi; Visual acuity; Vitreous body/surgery; Retinal detachment; Human; Female; Child[scielo.br]
  • These characteristics help to clearly identify ROP as a causative etiology. The classic finding in FEVR is peripheral retinal capillary nonperfusion.[reviewofophthalmology.com]

Epidemiology

  • Summary Epidemiology The prevalence of FEVR is unknown. It is usually inherited dominantly and many asymptomatic individuals may not come to medical attention as a result of non-penetrance.[orpha.net]
  • Epidemiology, onset & clinical features Epidemiology The disease is often described as rare or very rare, through the exact prevalence remains unknown.[institut-vision.org]
  • Six genes so far have been implicated in FEVR: FZD4 [6] [7] , NDP [8] [9] , LRP5 [7] [10] , TSPAN12 [11] [12] [13] , KIF11 [14] [15] and ZN408. [16] Epidemiology FEVR is described as a rare inherited disorder.[eyewiki.aao.org]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiologic mechanism, natural history, and optimal treatment of this disease are matters of debate. With active surgical management, three of the four eyes which presented to us for treatment have visual acuity of 20/30 or better.[ncbi.nlm.nih.gov]
  • Advances in the diagnosis, management and pathophysiology of capillary nonperfusion. Expert Rev Ophthalmol . 2012;7(3):281-292. Kashani AH, et al.[eyewiki.org]
  • These factors have been shown to be the regulators of the pathophysiological pathways of retinal vascular development.[e-tjo.org]
  • Genetic Pathophysiology Scientists have now linked 6 distinct genes that can lead to FEVR including FZD4 [6] [7] , NDP [8] [9] , LRP5 [7] [10] , TSPAN12 [11] [12] [13] , KIF11 [14] [15] and ZN408. [16] .[eyewiki.aao.org]

Prevention

  • “Prompt treatment when you have capillary dropouts with laser to prevent the progression [is necessary]. The future will be detecting the capillary dropouts ahead of time and trying to use drugs to prevent the later exudation.” Ehab N.[healio.com]
  • In these cases, microsurgery is required to prevent additional detachment of the retina or to reattach it. In most cases, careful monitoring and treatment of earlier stages of ROP prevent it from reaching these advanced stages.[healthcare.utah.edu]
  • Alteration prevents the formation of blood vessels in the retina margins, reducing blood supply to the tissue. Signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family.[ivami.com]
  • This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina.[diseaseinfosearch.org]
  • […] retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina FEVR familial exudative vitreoretinopathy Criswick-Schepens syndrome edit Language Label[wikidata.org]

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