Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Makino, Shinji; Endoh, Katsuhisa; Tampo, Hironobu

doi:10.1155/2013/604191

Cited by 9 publications

(9 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A similar aberrant retinal macrovessel originating from the vessels over the disc and going directly towards the fovea temporally has been reported in multiple publications. 4 We had previously reported a similar case 5 of congenital retinal macrovessel (artery) with unilaterally reduced size of foveal avascular zone/foveal hypoplasia, which has also been noted in previous reports. 2À4 We hypothesize that the retinal vessels around the fovea may play a role in foveal development.…”

supporting

confidence: 75%

Congenital retinal macrovessel may be associated with unilateral foveal hypoplasia/small foveal avascular zone

Tripathy

Bypareddy

Chawla

2019

Canadian Journal of Ophthalmology

View full text Add to dashboard Cite

supporting

confidence: 75%

Congenital retinal macrovessel may be associated with unilateral foveal hypoplasia/small foveal avascular zone

Tripathy

Bypareddy

Chawla

2019

Canadian Journal of Ophthalmology

View full text Add to dashboard Cite

“…With 49 patients with RVM identified in 15 retina clinics over 4 continents, to our knowledge, our study is the largest study of RVM reported in the literature. A PubMed search using the keyword retinal macrovessel produced 38 articles, [6][7][8][9][10][11][12][13][14][15][16] mostly case reports, for a total of 43 patients with RVM reported. A prior series 4 from 2008 reported 13 patients with RVM, all originating from a retinal vein.…”

Section: Discussionmentioning

confidence: 99%

Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain

et al. 2018

View full text Add to dashboard Cite

IMPORTANCE Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain.OBJECTIVE To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. DESIGN, SETTING, AND PARTICIPANTSIn this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007)(2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016)(2017). Patients with CRM, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were identified. Data were analyzed from December 2016 to August 2017.MAIN OUTCOMES AND MEASURES Clinical information and multimodal retinal imaging findings were collected and studied. Pertinent systemic information, including brain magnetic resonance imaging findings, was also noted if available. RESULTSOf the 49 included patients, 32 (65%) were female, and the mean (SD) age at onset was 44.0 (20.9) years. A total of 49 eyes from 49 patients were studied. Macrovessel was unilateral in all patients. Color fundus photography illustrated a large aberrant dilated and tortuous retinal vein in all patients. Early-phase frames of fluorescein angiography further confirmed the venous nature of the macrovessel in 40 of 40 eyes. Optical coherence tomography angiography, available in 17 eyes (35%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 patients with CRM, 39 (80%) did not illustrate any evidence of ophthalmic complications. Ten patients (20%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24%) were noted to have venous malformations of the brain with associated magnetic resonance imaging. Of these, location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83%) and contralateral in 2 patients (17%), mainly located in the frontal lobe in 9 patients (75%). CONCLUSIONS AND RELEVANCEOur study has identified an association between macrovessels in the retina and venous anomalies of the brain (24% compared with 0.2% to 6.0% in the normal population). Thus, we recommend new guidelines for the systemic workup of patients with CRM to include brain magnetic resonance imaging with contrast. These lesions may be more accurately referred to as retinal venous malformations, which may raise awareness regarding potential cerebral associations.

show abstract

“…Three of the patients also had other clinically significant disorders, including optic glioma, astrocytic hamartoma, and congenital retinal macrovessels. 7 …”

Section: Methodsmentioning

confidence: 99%

Correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1

Makino¹,

Tampo²,

Arai³

et al. 2014

OPTH

Self Cite

View full text Add to dashboard Cite

To evaluate correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1 (NF1), we examined ten cases with NF1 using near-infrared reflectance imaging. Patients ranged in age from 4 to 39 years. The angle used for near-infrared reflectance imaging was 55°. We counted the total number of choroidal abnormalities in an area within a 55° angle centered on the fovea and the total number of Lisch nodules on the iris by slit-lamp examination. No positive correlation was found between the number of Lisch nodules and patient age (Spearman’s rank correlation coefficient ρ=0.117, P=0.7414). Choroidal abnormalities tended to increase with age (ρ=0.6150), but this difference was not statistically significant (P=0.0650). A positive correlation was found between the number of choroidal abnormalities and Lisch nodules (ρ=0.783, P=0.0267). In conclusion, choroidal abnormalities tend to increase with patient age and are correlated with the number of Lisch nodules.

show abstract

Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Cited by 9 publications

References 12 publications

Congenital retinal macrovessel may be associated with unilateral foveal hypoplasia/small foveal avascular zone

Congenital retinal macrovessel may be associated with unilateral foveal hypoplasia/small foveal avascular zone

Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain

Correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1

Contact Info

Product

Resources

About