Symptoma

Exudative Vitreoretinopathy Type 5

TSPAN12-Related Familial Exudative Vitreoretinopathy

Eyes with invasive posterior segment procedures before initial presentation were excluded. MAIN OUTCOME MEASURES: Demographics on presentation and clinical staging. [ncbi.nlm.nih.gov]

  • Asymptomatic

    OBJECTIVE: To describe the prevalence and severity of familial exudative vitreoretinopathy (FEVR) in asymptomatic relatives of known symptomatic FEVR patients. [ncbi.nlm.nih.gov]

  • Lymphedema

    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]

  • Progressive Loss of Vision

    Progressive loss of vision is reported in severe cases. The documents contained in this web site are presented for information purposes only. [orpha.net]

    Familial exudative vitreoretinopathy is an inherited disorder that can cause progressive loss of vision, retinal involvement. Alteration prevents the formation of blood vessels in the retina margins, reducing blood supply to the tissue. [ivami.com]

  • Macula

    The majority of the mutations in FZD4 were identified in probands with retinal folds (15/21) and ectopic macula (5/21). [ncbi.nlm.nih.gov]

  • Osteoporosis

    Familial exudative vitreoretinopathy and osteoporosis pseudoglioma syndrome are conditions that result from mutations in the LRP5 gene. [ncbi.nlm.nih.gov]

    The presence of juvenile osteoporosis suggests the diagnosis of FEVR occurs in the spectrum of OPPG. [healio.com]

    Loss of function of LRP5 in osteoblasts results in osteoporosis, one of the key clinical features that differentiates osteoporosis-pseudoglioma syndrome from FEVR. 23 Pedigrees demonstrating both autosomal dominant and autosomal recessive inheritance [reviewofophthalmology.com]

    […] degree of osteoporosis. [clinicaltrials.gov]

  • Long Arm

    While linkage analysis has not been reported for the autosomal recessive form, the gene for the autosomal dominant form has been localized to the long arm of chromosome 11 (11q13 -q23). [eurekaselect.com]

    The FZD4 gene, located on the long arm of chromosome 11 (11q14.2), encoding the curly-4 protein. [ivami.com]

    The Gene for Autosomal Dominant Familial Exudative Vitreoretinopathy (Criswick-Schepens) on the Long Arm of Chromosome 11. American Journal of Ophthalmology. 1992;113(6):712-713. Li Y, Müller B, Fuhrmann C, et al. [eyewiki.aao.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]

  • Suggestibility

    The phenotype of these patients suggested a synergistic effect of the two mutations in the independent FEVR-causing genes. We also demonstrated that reduced bone density is a common feature in patients with FEVR who harbor LRP5 mutations. [ncbi.nlm.nih.gov]

  • Indecisiveness

    Seven causative mutations and five possibly causative but indecisive variants were examined. [ncbi.nlm.nih.gov]

  • Confusion

    This condition is sometimes confused with retrolental fibroplasia, and FEV is probably a more frequently occurring disease than previously thought, because of confusion with RLF. [ncbi.nlm.nih.gov]

    The clinical picture is sometimes confused with retinopathy of prematurity. Systemic Features: No consistent systemic abnormalities have been identified in EVR2. [disorders.eyes.arizona.edu]

These patients are often family members of a patient with advanced disease, who are identified during the screening workup for suspected FEVR. [reviewofophthalmology.com]

CONCLUSIONS: 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]

CONCLUSIONS: 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]

Due to the wide variability of symptoms, we strongly encourage you to discuss your questions regarding your child's prognosis with her treating physician. [2] Early treatment can improve the long-term prognosis/outlook for children with FEVR. [rarediseases.info.nih.gov]

The cloning of the ND gene has made it possible to investigate the etiology of ND, as well as seve ral other clinically similar conditions. [eurekaselect.com]

These characteristics help to clearly identify ROP as a causative etiology. The classic finding in FEVR is peripheral retinal capillary nonperfusion. [reviewofophthalmology.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [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]

Epidemiology, onset & clinical features Epidemiology The disease is often described as rare or very rare, through the exact prevalence remains unknown. [institut-vision.org]

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]

Relevant External Links for FZD4 Genetic Association Database (GAD) FZD4 Human Genome Epidemiology (HuGE) Navigator FZD4 Tumor Gene Database (TGDB): FZD4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FZD4 No data available for Genatlas [genecards.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. The prevalence has not been reported yet. [eyewiki.aao.org]

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]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]

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]

“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]

Protein coding - A0A0J9YVI2 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level Not Analysed. [ensembl.org]

The availability of an animal model should assist in developing a therapeutic approach, either to delay or to prevent these devastating disorders in the futur e. [eurekaselect.com]

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]

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]