Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042373 (vascular disease)
 17,070 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This article reviews the pathophysiology of retinal vascular disease with emphasis on Coats' disease and familial exudative vitreoretinopathy (FEVR). Both Coats' disease and FEVR demonstrate vascular abnormalities and associated exudation. Coats' disease manifests as teleangiectasia and aneurysms. Exudative subretinal lipid deposits can be extensive. Coats' disease is in 90 % unilateral and affects predominantly otherwise healthy young males. If the retina is attached, laser and cryocoagulation are the method of choice. Vitreoretinal surgery is only rarely indicated in advanced cases after a retinoblastoma has been excluded prior to surgery. FEVR inheritance is 56 % dominant (FZD4 und TSPAN12) and 44 % recessive (LRP5 und NDP). Temporal dragging of the vascular arcades and heterotopia of the macula are characteristic for FEVR. Subretinal exudates are indicators for progression of the disease with visual loss due to subsequent exudative or tractive retinal detachment. Exudative forms require treatment and reduction of peripheral ischaemia with laser photocoagulation and cryopexia. In cases of tractive detachments vitreoretinal surgery is necessary. Coats' disease and FEVR are both progressive diseases requiring lifelong follow-up and therapy.
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PMID:[Retinal exudative disease in childhood: Coats' disease and familial exudative vitreoretinopathy (FEVR)]. 2398 89

Familial exudative vitreoretinopathy (FEVR) is a hereditary retinal vascular disorder. Among the various clinical phenotypes of this disease, retinal folds are the primary and typical feature of FEVR. However, little is known about the clinical characteristics, genetic spectrum, or potential phenotype-genotype correlation of retinal folds. Herein, we describe and analyze the clinical and genetic characteristics of retinal folds in FEVR. Eighty-nine patients with unilateral or bilateral retinal folds were included in this study. Clinical examinations showed that the retinal folds were bilateral in 37 patients (41.6%). Various retinal abnormalities were noted in the fellow eyes in the remaining 52 patients with unilateral folds. Most of the folds were located temporally (98.4%, 124/126), and were complete (97.6%, 123/126). 67.5% (60/89) probands were genetic confirmed FEVR. 25 novel pathogenic mutations (7 in FZD4, 7 in LRP5, 1 in NDP, 4 in TSPAN12, and 6 in KIF11) were identified in 25 families. Overall, 87.5% (14/16) and 73.7%(14/19) patients with LRP5 and FZD4 mutations were with unilateral folds, respectively.Nevertheless, only 25% (2/8), 36.4%(4/11) and 16.7%(1/6) patients with NDP, TSPAN12, and KIF11 mutations were with unilateral folds. Moreover, 85.7%(12/14),100% (6/6) and 100%(8/8) of the patients with mutated TSPAN12, KIF11, and NDP genes presented with symmetry in disease staging, while 55% and 64.7% of patients with FZD4 and LRP5 mutation displayed symmetry in staging. In conclusion, the majority of retinal folds extended completely and radially in the temporal peripheral retina. Patients with causative mutations in NDP, TSPAN12, or KIF11 were more likely to have bilaterally symmetrical severe retinopathy. In contrast, patients with LRP5 and FZD4 mutations displayed a relatively milder but broader spectrum of phenotypes and a higher frequency of asymmetry.
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PMID:Symmetry of folds in FEVR: A genotype-phenotype correlation study. 3129 83