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fevr [2023/03/12 19:45] – Scott Larsonfevr [2025/06/14 02:42] (current) – [Resources] Scott Larson
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 ====== Exudative Vitreoretinopathy (EVR) ====== ====== Exudative Vitreoretinopathy (EVR) ======
-aka. Familial Exudative Vitreoretinopathy (FEVR)//+aka. Familial Exudative Vitreoretinopathy (FEVR)\\
 A disorder characterized by incomplete development of retinal vasculature. There is a wide variety of clinical appearances and severity but the pathology is the result of retinal ischemia. The disease is characterized by the development of hyper permeable blood vessels, neovascularization, vitreoretinal traction, retinal folds and retinal detachments.  A disorder characterized by incomplete development of retinal vasculature. There is a wide variety of clinical appearances and severity but the pathology is the result of retinal ischemia. The disease is characterized by the development of hyper permeable blood vessels, neovascularization, vitreoretinal traction, retinal folds and retinal detachments. 
  
 ===== Types ===== ===== Types =====
-  * Type 1 - Criswick-Schepens Syndrome+  * [[https://omim.org/entry/133780?search=%23%20133780&highlight=133780|Type 1]] - Criswick-Schepens Syndrome
     * Autosomal Dominant     * Autosomal Dominant
     * Gene: [[https://www.ncbi.nlm.nih.gov/gene/8322|FZD4]]     * Gene: [[https://www.ncbi.nlm.nih.gov/gene/8322|FZD4]]
-    * Chromosome: [[https://omim.org/geneMap/11/792?start=-3&limit=10&highlight=792|11q14.2]] +    * Chromosome location: [[https://omim.org/geneMap/11/792?start=-3&limit=10&highlight=792|11q14.2]] 
-    * +  * [[https://omim.org/entry/305390?search=%23%20305390&highlight=305390|Type 2]] 
 +    * X-linked recessive 
 +    * Gene: [[https://www.ncbi.nlm.nih.gov/gene/?term=Homo+sapiens+norrin+cystine+knot+growth+factor+NDP|NDP gene]]  
 +  * [[https://omim.org/entry/605750?search=%25%20605750&highlight=605750|Type 3]]  
 +    * Autosomal Dominant 
 +    * Chromosome location: 11p13-p12 (approximately 30 cM from the EVR1 locus) 
 +  * [[https://omim.org/entry/601813?search=601813&highlight=601813|Type 4]] 
 +    * Autosomal Recessive 
 +    * Gene: [[https://www.ncbi.nlm.nih.gov/gene/4041|LRP5]] 
 +    * Chromosome location: 11q13.2 
 +  * [[https://omim.org/entry/613310|Type 5]] 
 +    * Autosomal Dominant 
 +    * Gene: TSPAN12 
 +    * Chromosome location 7q31.31  
 +  * [[https://omim.org/entry/616468|Type 6]] 
 +    * Autosomal Dominant 
 +    * Gene: ZNF408 
 +    * Chromosome Location: 11p11.2 
 +  * [[https://omim.org/entry/617572|Type 7]] 
 +    * Autosomal Dominant 
 +    * Gene: CTNNB1 
 +    * Chromosome Location: 3p22.1
  
- 
-===== Genetics ===== 
-  * Autosomal Dominant Mutations 
-    * [[https://www.ncbi.nlm.nih.gov/gene/8322|FZD4]] 
-    * [[https://www.ncbi.nlm.nih.gov/gene/4041|LRP5]] - [[https://omim.org/entry/601813|OMIM entry]] 
-  * Autosomal Recessive Mutations 
-    * [[https://www.ncbi.nlm.nih.gov/gene/4041|LRP5]] 
-  * X-linked Recessive Mutations 
-    * [[https://www.ncbi.nlm.nih.gov/gene/?term=Homo+sapiens+norrin+cystine+knot+growth+factor+NDP|NDP gene]]  
  
 ===== Resources ===== ===== Resources =====
-  * {{ ::autosomal_dominant_vitreoretinopathy_ober_1980.pdf |Autosomal dominant exudative vitreoretinopathy. Ober et al. 1980}} +  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EQ2egWBLGPVOkU4L2KerWEIBAtLKLuJKGAvLn9OEn2PkXQ?e=CDeXx0 |Autosomal dominant exudative vitreoretinopathy. Ober et al. 1980]] 
 +  * [[https://1drv.ms/b/c/31d83ae8e55e0542/ETIr3Jmg68pJoLHIIpNfXD8B4YbTfy32EMqoDeLLif_k-g?e=dkhPmm |Familial exudative vitreoretinopthy and related retinopathies. Gilmour DF. 2015]]
  
 +{{tag>syndrome}}