Literature DB >> 2234842

Autosomal dominant neovascular inflammatory vitreoretinopathy.

S R Bennett1, J C Folk, A E Kimura, S R Russell, E M Stone, E M Raphtis.   

Abstract

Twenty-eight of 61 members of a six-generation family are affected by an autosomal dominant eye disease which has not been described previously. Affected patients are asymptomatic in early adulthood, but have vitreous cells and the selective loss of the b-wave on the electroretinogram. Later, peripheral retinal scarring and pigmentation, peripheral arteriolar closure, and neovascularization of the peripheral retina at the ora serrata or occasionally neovascularization of the optic disc develop. Cystoid macular edema, vitreous hemorrhage, tractional retinal detachment, and neovascular glaucoma can cause profound visual loss. Vitrectomy reduces traction on the retina and allows for retinal reattachment. The role of argon laser photocoagulation or cryopexy in reducing the neovascular complications remains uncertain.

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Mesh:

Year:  1990        PMID: 2234842     DOI: 10.1016/s0161-6420(90)32447-8

Source DB:  PubMed          Journal:  Ophthalmology        ISSN: 0161-6420            Impact factor:   12.079


  18 in total

1.  Inhibition of neovascularization but not fibrosis with the fluocinolone acetonide implant in autosomal dominant neovascular inflammatory vitreoretinopathy.

Authors:  Paul S Tlucek; James C Folk; Jason A Orien; Edwin M Stone; Vinit B Mahajan
Journal:  Arch Ophthalmol       Date:  2012-11

Review 2.  Bestrophin 1 and retinal disease.

Authors:  Adiv A Johnson; Karina E Guziewicz; C Justin Lee; Ravi C Kalathur; Jose S Pulido; Lihua Y Marmorstein; Alan D Marmorstein
Journal:  Prog Retin Eye Res       Date:  2017-01-30       Impact factor: 21.198

3.  CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Authors:  Katherine J Wert; Alexander G Bassuk; Wen-Hsuan Wu; Lokesh Gakhar; Diana Coglan; MaryAnn Mahajan; Shu Wu; Jing Yang; Chyuan-Sheng Lin; Stephen H Tsang; Vinit B Mahajan
Journal:  Hum Mol Genet       Date:  2015-05-20       Impact factor: 6.150

4.  Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Authors:  Katherine J Wert; Jessica M Skeie; Alexander G Bassuk; Alicia K Olivier; Stephen H Tsang; Vinit B Mahajan
Journal:  Hum Mol Genet       Date:  2013-12-30       Impact factor: 6.150

5.  Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Authors:  M A Bamashmus; L M Downey; C F Inglehearn; S R Gupta; D C Mansfield
Journal:  Br J Ophthalmol       Date:  2000-04       Impact factor: 4.638

6.  T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy.

Authors:  Vinit B Mahajan; John G Vallone; Jonathan H Lin; Robert F Mullins; Audrey C Ko; James C Folk; Edwin M Stone
Journal:  Mol Vis       Date:  2010-06-08       Impact factor: 2.367

7.  Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.

Authors:  Nadia M Randazzo; Morag E Shanks; Penny Clouston; Robert E MacLaren
Journal:  Ocul Immunol Inflamm       Date:  2017-10-17       Impact factor: 3.070

8.  Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Authors:  Vinit B Mahajan; Jessica M Skeie; Alexander G Bassuk; John H Fingert; Terry A Braun; Heather T Daggett; James C Folk; Val C Sheffield; Edwin M Stone
Journal:  PLoS Genet       Date:  2012-10-04       Impact factor: 5.917

9.  Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Authors:  Hannah A Rowell; Alexander G Bassuk; Vinit B Mahajan
Journal:  Clin Ophthalmol       Date:  2012-12-06

10.  Surgical management of fibrotic encapsulation of the fluocinolone acetonide implant in CAPN5-associated proliferative vitreoretinopathy.

Authors:  Paul S Tlucek; James C Folk; Warren M Sobol; Vinit B Mahajan
Journal:  Clin Ophthalmol       Date:  2013-06-10
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