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Retinal capillary malformation

MedGen UID:
977232
•Concept ID:
CN294193
•
Disease or Syndrome
Synonym: retinal capillary malformation
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019101
Orphanet: ORPHA71213

Definition

Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal capillary malformation

Professional guidelines

PubMed

Systemic Treatment Reduces Von-Hippel-Lindau-Associated Retinal Capillary Hemangioblastoma.
Fairbanks AM, Hoyek S, Patel NA
Ophthalmology 2023 May;130(5):524. Epub 2022 Aug 18 doi: 10.1016/j.ophtha.2022.07.007. PMID: 35987662
Current and Novel Therapeutic Approaches for Treatment of Diabetic Macular Edema.
Chauhan MZ, Rather PA, Samarah SM, Elhusseiny AM, Sallam AB
Cells 2022 Jun 17;11(12) doi: 10.3390/cells11121950. PMID: 35741079Free PMC Article
Endothelium as a Potential Target for Treatment of Abdominal Aortic Aneurysm.
Sun J, Deng H, Zhou Z, Xiong X, Gao L
Oxid Med Cell Longev 2018;2018:6306542. Epub 2018 Apr 3 doi: 10.1155/2018/6306542. PMID: 29849906Free PMC Article

Recent clinical studies

Etiology

Analysis of Parafoveal Microvascular Abnormalities in Behcet's Uveitis Using Projection-Resolved Optical Coherence Tomographic Angiography.
Pei M, Zhao C, Gao F, Qu Y, Liang A, Xiao J, Zhang M
Ocul Immunol Inflamm 2021 Apr 3;29(3):524-529. Epub 2019 Nov 19 doi: 10.1080/09273948.2019.1685108. PMID: 31743043
Peripheral Vascular Abnormalities Detected by Fluorescein Angiography in Contralateral Eyes of Patients With Persistent Fetal Vasculature.
Huang Q, Xu Y, Zhang Q, Lyu J, Chen S, Zhao P
Ophthalmic Surg Lasers Imaging Retina 2020 Sep 1;51(9):506-511. doi: 10.3928/23258160-20200831-05. PMID: 32955590
Late-Stage Sjögren-Larsson Syndrome Maculopathy Imaged With OCT Angiography.
Kovach JL
Ophthalmic Surg Lasers Imaging Retina 2018 Sep 1;49(9):e78-e82. doi: 10.3928/23258160-20180907-11. PMID: 30222823
Ocular perfusion abnormalities in diabetes.
Ciulla TA, Harris A, Latkany P, Piper HC, Arend O, Garzozi H, Martin B
Acta Ophthalmol Scand 2002 Oct;80(5):468-77. doi: 10.1034/j.1600-0420.2002.800503.x. PMID: 12390156
Ocular vaso-occlusive disease in primary antiphospholipid syndrome.
Castañón C, Amigo MC, Bañales JL, Nava A, Reyes PA
Ophthalmology 1995 Feb;102(2):256-62. doi: 10.1016/s0161-6420(95)31028-7. PMID: 7862414

Diagnosis

Systemic Treatment Reduces Von-Hippel-Lindau-Associated Retinal Capillary Hemangioblastoma.
Fairbanks AM, Hoyek S, Patel NA
Ophthalmology 2023 May;130(5):524. Epub 2022 Aug 18 doi: 10.1016/j.ophtha.2022.07.007. PMID: 35987662
Thrombotic thrombocytopenic purpura: the masquerader.
Patel A, Patel H, Patel A
South Med J 2009 May;102(5):504-9. doi: 10.1097/SMJ.0b013e31819f330e. PMID: 19373147
Retinal vascular tumors.
Singh AD, Rundle PA, Rennie I
Ophthalmol Clin North Am 2005 Mar;18(1):167-76, x. doi: 10.1016/j.ohc.2004.07.005. PMID: 15763202
The electroretinogram in diabetic retinopathy.
Tzekov R, Arden GB
Surv Ophthalmol 1999 Jul-Aug;44(1):53-60. doi: 10.1016/s0039-6257(99)00063-6. PMID: 10466588
Retinal capillary hemangioma.
Baker JL
J Am Optom Assoc 1991 Oct;62(10):776-9. PMID: 1813504

Therapy

Current and Novel Therapeutic Approaches for Treatment of Diabetic Macular Edema.
Chauhan MZ, Rather PA, Samarah SM, Elhusseiny AM, Sallam AB
Cells 2022 Jun 17;11(12) doi: 10.3390/cells11121950. PMID: 35741079Free PMC Article
Thrombotic thrombocytopenic purpura: the masquerader.
Patel A, Patel H, Patel A
South Med J 2009 May;102(5):504-9. doi: 10.1097/SMJ.0b013e31819f330e. PMID: 19373147
Ocular von Hippel-Lindau disease: clinical update and emerging treatments.
Wong WT, Chew EY
Curr Opin Ophthalmol 2008 May;19(3):213-7. doi: 10.1097/ICU.0b013e3282fb7c04. PMID: 18408496Free PMC Article
Endogenous endostatin inhibits choroidal neovascularization.
Marneros AG, She H, Zambarakji H, Hashizume H, Connolly EJ, Kim I, Gragoudas ES, Miller JW, Olsen BR
FASEB J 2007 Dec;21(14):3809-18. Epub 2007 May 25 doi: 10.1096/fj.07-8422com. PMID: 17526870
Retrolental Fibroplasia. II. Pathologic correlation.
Kushner BJ, Essner D, Cohen IJ, Flynn JT
Arch Ophthalmol 1977 Jan;95(1):29-38. doi: 10.1001/archopht.1977.04450010031002. PMID: 576397

Prognosis

Analysis of Parafoveal Microvascular Abnormalities in Behcet's Uveitis Using Projection-Resolved Optical Coherence Tomographic Angiography.
Pei M, Zhao C, Gao F, Qu Y, Liang A, Xiao J, Zhang M
Ocul Immunol Inflamm 2021 Apr 3;29(3):524-529. Epub 2019 Nov 19 doi: 10.1080/09273948.2019.1685108. PMID: 31743043
Late-Stage Sjögren-Larsson Syndrome Maculopathy Imaged With OCT Angiography.
Kovach JL
Ophthalmic Surg Lasers Imaging Retina 2018 Sep 1;49(9):e78-e82. doi: 10.3928/23258160-20180907-11. PMID: 30222823
Ocular von Hippel-Lindau disease: clinical update and emerging treatments.
Wong WT, Chew EY
Curr Opin Ophthalmol 2008 May;19(3):213-7. doi: 10.1097/ICU.0b013e3282fb7c04. PMID: 18408496Free PMC Article
Retinal vascular tumors.
Singh AD, Rundle PA, Rennie I
Ophthalmol Clin North Am 2005 Mar;18(1):167-76, x. doi: 10.1016/j.ohc.2004.07.005. PMID: 15763202
The electroretinogram in diabetic retinopathy.
Tzekov R, Arden GB
Surv Ophthalmol 1999 Jul-Aug;44(1):53-60. doi: 10.1016/s0039-6257(99)00063-6. PMID: 10466588

Clinical prediction guides

Analysis of Parafoveal Microvascular Abnormalities in Behcet's Uveitis Using Projection-Resolved Optical Coherence Tomographic Angiography.
Pei M, Zhao C, Gao F, Qu Y, Liang A, Xiao J, Zhang M
Ocul Immunol Inflamm 2021 Apr 3;29(3):524-529. Epub 2019 Nov 19 doi: 10.1080/09273948.2019.1685108. PMID: 31743043
Peripheral Vascular Abnormalities Detected by Fluorescein Angiography in Contralateral Eyes of Patients With Persistent Fetal Vasculature.
Huang Q, Xu Y, Zhang Q, Lyu J, Chen S, Zhao P
Ophthalmic Surg Lasers Imaging Retina 2020 Sep 1;51(9):506-511. doi: 10.3928/23258160-20200831-05. PMID: 32955590
The electroretinogram in diabetic retinopathy.
Tzekov R, Arden GB
Surv Ophthalmol 1999 Jul-Aug;44(1):53-60. doi: 10.1016/s0039-6257(99)00063-6. PMID: 10466588
Mechanisms of maculopathy.
Eagle RC Jr
Ophthalmology 1984 Jun;91(6):613-25. doi: 10.1016/s0161-6420(84)34259-2. PMID: 6205340
Retrolental Fibroplasia. II. Pathologic correlation.
Kushner BJ, Essner D, Cohen IJ, Flynn JT
Arch Ophthalmol 1977 Jan;95(1):29-38. doi: 10.1001/archopht.1977.04450010031002. PMID: 576397

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