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Retinal vascular malformation

MedGen UID:
350100
Concept ID:
C1861791
Finding
Synonym: Retinal vascular malformations
 
HPO: HP:0007797

Term Hierarchy

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

Conditions with this feature

Cerebral cavernous malformation
MedGen UID:
418825
Concept ID:
C2919945
Congenital Abnormality
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.

Professional guidelines

PubMed

Akter N, Abousamra A
Acta Ophthalmol 2023 May;101(3):e346-e350. Epub 2022 Sep 9 doi: 10.1111/aos.15236. PMID: 37032451
Arruabarrena C, Liaño G, Hernáez-Leonato JM, Martínez-Sánchez M, Cañas-Martín J, Teus MA
Ophthalmic Surg Lasers Imaging Retina 2023 Jan;54(1):43-49. Epub 2023 Jan 1 doi: 10.3928/23258160-20221219-01. PMID: 36626213
Miller NR
Neurosurg Focus 2007;23(5):E13. doi: 10.3171/FOC-07/11/E13. PMID: 18004961

Recent clinical studies

Etiology

Subhadra J, Najmi R
Doc Ophthalmol 1999;97(3-4):283-95. doi: 10.1023/a:1002125804318. PMID: 10896342

Diagnosis

Vucic D, Kalezic T, Kostic A, Stojkovic M, Risimic D, Stankovic B
Ophthalmic Genet 2013 Mar-Jun;34(1-2):61-4. Epub 2012 Jun 14 doi: 10.3109/13816810.2012.695422. PMID: 22697299

Prognosis

Subhadra J, Najmi R
Doc Ophthalmol 1999;97(3-4):283-95. doi: 10.1023/a:1002125804318. PMID: 10896342

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