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Autosomal dominant neovascular inflammatory vitreoretinopathy(ADNIV)

MedGen UID:
1648542
Concept ID:
C4721549
Disease or Syndrome
Synonym: CAPN5-related vitreoretinopathy
SNOMED CT: Autosomal dominant neovascular inflammatory vitreoretinopathy (770791000)
 
Monarch Initiative: MONDO:0100450
OMIM®: 193235

Definition

Autosomal dominant neovascular inflammatory vitreoretinopathy (VRNI) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by Sheffield et al., 1992). [from OMIM]

Professional guidelines

PubMed

Maccora I, Ebert JJ, Schulert GS, Quinlan-Waters M, Duell A, Huggins JL, Sapp CC, Nguyen T, Srivastava SK, Sood AB, Angeles-Han ST
Ocul Immunol Inflamm 2024 Dec;32(10):2441-2448. Epub 2024 Sep 10 doi: 10.1080/09273948.2024.2401146. PMID: 39254738Free PMC Article
Tabbaa T, Mehra AA, Kesav NP, Mahajan VB, Swanson RD, Zubricky R, Sobol WM
Ophthalmic Genet 2023 Dec;44(6):559-567. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2255257. PMID: 37782277

Recent clinical studies

Etiology

Maccora I, Ebert JJ, Schulert GS, Quinlan-Waters M, Duell A, Huggins JL, Sapp CC, Nguyen T, Srivastava SK, Sood AB, Angeles-Han ST
Ocul Immunol Inflamm 2024 Dec;32(10):2441-2448. Epub 2024 Sep 10 doi: 10.1080/09273948.2024.2401146. PMID: 39254738Free PMC Article
Bjeloš M, Ćurić A, Bušić M, Rak B, Kuzmanović Elabjer B
Int J Mol Sci 2024 Jun 11;25(12) doi: 10.3390/ijms25126442. PMID: 38928147Free PMC Article
Ebert JJ, Maccora I, Sapp CC, Nguyen T, Sisk RA, Srivastava SK, Angeles-Han ST, Sood AB
Ophthalmol Retina 2024 Nov;8(11):1107-1112. Epub 2024 May 22 doi: 10.1016/j.oret.2024.05.010. PMID: 38782117
Xia FJ, Lyu J, Zhang X, Fei P, Zhao PQ
Ocul Immunol Inflamm 2023 Nov;31(9):1777-1784. Epub 2022 Nov 11 doi: 10.1080/09273948.2022.2110901. PMID: 36369866
Boyce TM, Whitmore SS, Varzavand K, Russell SR, Sohn EH, Folk JC, Stone EM, Han IC
Am J Ophthalmol 2022 Jan;233:144-152. Epub 2021 Jul 21 doi: 10.1016/j.ajo.2021.07.015. PMID: 34302771Free PMC Article

Diagnosis

Maccora I, Ebert JJ, Schulert GS, Quinlan-Waters M, Duell A, Huggins JL, Sapp CC, Nguyen T, Srivastava SK, Sood AB, Angeles-Han ST
Ocul Immunol Inflamm 2024 Dec;32(10):2441-2448. Epub 2024 Sep 10 doi: 10.1080/09273948.2024.2401146. PMID: 39254738Free PMC Article
Ebert JJ, Maccora I, Sapp CC, Nguyen T, Sisk RA, Srivastava SK, Angeles-Han ST, Sood AB
Ophthalmol Retina 2024 Nov;8(11):1107-1112. Epub 2024 May 22 doi: 10.1016/j.oret.2024.05.010. PMID: 38782117
Tabbaa T, Mehra AA, Kesav NP, Mahajan VB, Swanson RD, Zubricky R, Sobol WM
Ophthalmic Genet 2023 Dec;44(6):559-567. Epub 2023 Nov 20 doi: 10.1080/13816810.2023.2255257. PMID: 37782277
Xia FJ, Lyu J, Zhang X, Fei P, Zhao PQ
Ocul Immunol Inflamm 2023 Nov;31(9):1777-1784. Epub 2022 Nov 11 doi: 10.1080/09273948.2022.2110901. PMID: 36369866
Boyce TM, Whitmore SS, Varzavand K, Russell SR, Sohn EH, Folk JC, Stone EM, Han IC
Am J Ophthalmol 2022 Jan;233:144-152. Epub 2021 Jul 21 doi: 10.1016/j.ajo.2021.07.015. PMID: 34302771Free PMC Article

Therapy

Maccora I, Ebert JJ, Schulert GS, Quinlan-Waters M, Duell A, Huggins JL, Sapp CC, Nguyen T, Srivastava SK, Sood AB, Angeles-Han ST
Ocul Immunol Inflamm 2024 Dec;32(10):2441-2448. Epub 2024 Sep 10 doi: 10.1080/09273948.2024.2401146. PMID: 39254738Free PMC Article
Ebert JJ, Maccora I, Sapp CC, Nguyen T, Sisk RA, Srivastava SK, Angeles-Han ST, Sood AB
Ophthalmol Retina 2024 Nov;8(11):1107-1112. Epub 2024 May 22 doi: 10.1016/j.oret.2024.05.010. PMID: 38782117
Wert KJ, Mahajan VB
Methods Mol Biol 2019;1915:233-247. doi: 10.1007/978-1-4939-8988-1_18. PMID: 30617808Free PMC Article

Prognosis

Maccora I, Ebert JJ, Schulert GS, Quinlan-Waters M, Duell A, Huggins JL, Sapp CC, Nguyen T, Srivastava SK, Sood AB, Angeles-Han ST
Ocul Immunol Inflamm 2024 Dec;32(10):2441-2448. Epub 2024 Sep 10 doi: 10.1080/09273948.2024.2401146. PMID: 39254738Free PMC Article
Ebert JJ, Maccora I, Sapp CC, Nguyen T, Sisk RA, Srivastava SK, Angeles-Han ST, Sood AB
Ophthalmol Retina 2024 Nov;8(11):1107-1112. Epub 2024 May 22 doi: 10.1016/j.oret.2024.05.010. PMID: 38782117
Boyce TM, Whitmore SS, Varzavand K, Russell SR, Sohn EH, Folk JC, Stone EM, Han IC
Am J Ophthalmol 2022 Jan;233:144-152. Epub 2021 Jul 21 doi: 10.1016/j.ajo.2021.07.015. PMID: 34302771Free PMC Article
Gakhar L, Bassuk AG, Velez G, Khan S, Yang J, Tsang SH, Mahajan VB
J Struct Biol 2016 Dec;196(3):309-318. Epub 2016 Jul 27 doi: 10.1016/j.jsb.2016.07.017. PMID: 27474374Free PMC Article

Clinical prediction guides

Bjeloš M, Ćurić A, Bušić M, Rak B, Kuzmanović Elabjer B
Int J Mol Sci 2024 Jun 11;25(12) doi: 10.3390/ijms25126442. PMID: 38928147Free PMC Article
Boyce TM, Whitmore SS, Varzavand K, Russell SR, Sohn EH, Folk JC, Stone EM, Han IC
Am J Ophthalmol 2022 Jan;233:144-152. Epub 2021 Jul 21 doi: 10.1016/j.ajo.2021.07.015. PMID: 34302771Free PMC Article
Gakhar L, Bassuk AG, Velez G, Khan S, Yang J, Tsang SH, Mahajan VB
J Struct Biol 2016 Dec;196(3):309-318. Epub 2016 Jul 27 doi: 10.1016/j.jsb.2016.07.017. PMID: 27474374Free PMC Article
Nelson NG, Skeie JM, Muradov H, Rowell HA, Seo S, Mahajan VB
BMC Res Notes 2014 Sep 12;7:642. doi: 10.1186/1756-0500-7-642. PMID: 25216694Free PMC Article
Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC
Hum Mol Genet 1992 Dec;1(9):685-9. doi: 10.1093/hmg/1.9.685. PMID: 1284594

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