Dataset Information

Fluorescein Leakage within Recent Subretinal Hemorrhage in Pathologic Myopia: Suggestive of CNV?

ABSTRACT:

Purpose

To determine whether fluorescein leakage within subretinal hemorrhage is definitely suggestive of choroidal neovascularization (CNV) by multimodal imaging including optical coherence tomography angiography (OCTA).

Methods

Twenty-five consecutive highly myopic patients (25 eyes) with fluorescein leakage within subretinal hemorrhage detected within 1 month were prospectively included. All patients underwent OCTA and spectral-domain optical coherence tomography (SD-OCT). The OCTA and SD-OCT findings at the site of fluorescein leakage were analyzed. In cases of a doubtful diagnosis, indocyanine green angiography (ICGA) was also performed to differentiate myopic CNV from lacquer crack if necessary; all patients were followed up by SD-OCT and/or OCTA for at least 2 weeks.

Results

In terms of the site of fluorescein leakage, OCTA revealed an abnormal vascular network in the outer retina and a choriocapillaris slab in 22 out of 25 eyes (88%), which were confirmed to be CNV. However, no high-flow signal was observed in 3 of 25 eyes (12%). In these 3 cases, SD-OCT showed a focal rupture of the retinal pigment epithelium-Bruch's membrane-choriocapillaris (RPE-BM-CC) complex and a columnar hyperreflective signal of blood originating from defects with a volcanic geyser-like appearance, and no exudative signs were detected. Notably, all ruptures of the RPE-BM-CC complex were located exactly at lacquer crack sites. Moreover, with the absorption of subretinal hemorrhage, ruptures of the RPE-BM-CC complex spontaneously resolved without any intervention. Considering the multimodal imaging appearance and follow-up outcomes, these 3 eyes were eventually diagnosed as simple bleeding associated with lacquer cracks.

Conclusions

Dye leakage within recent subretinal hemorrhage on FA could be caused by new-onset lacquer cracks in pathologic myopia. Multimodal imaging including OCTA is helpful to differentiate lacquer cracks from myopic CNV.

SUBMITTER: Mi L

PROVIDER: S-EPMC6110035 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Publications

Fluorescein Leakage within Recent Subretinal Hemorrhage in Pathologic Myopia: Suggestive of CNV?

Mi Lan L Zuo Chengguo C Zhang Xiongze X Liu Bing B Peng Yuting Y Wen Feng F

Journal of ophthalmology 20180813

<h4>Purpose</h4>To determine whether fluorescein leakage within subretinal hemorrhage is definitely suggestive of choroidal neovascularization (CNV) by multimodal imaging including optical coherence tomography angiography (OCTA).<h4>Methods</h4>Twenty-five consecutive highly myopic patients (25 eyes) with fluorescein leakage within subretinal hemorrhage detected within 1 month were prospectively included. All patients underwent OCTA and spectral-domain optical coherence tomography (SD-OCT). The ...[more]

PMID: 30186627

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Project description:BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe BMP4 truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, BMP4 variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple in silico tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in BMP4 were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients with a specific form of pathologic myopia, characterized by significantly extended axial length, posterior staphyloma, macula patchy, chorioretinal atrophy, myopic optic neuropathy or glaucoma, vitreous opacity, and unique peripheral snow-grain retinopathy. The extreme rarity of the truncations in BMP4 (classified as intolerant in the gnomAD database, pLI = 0.96), the exclusive presence of these variants in the four families with pathologic myopia, variants fully co-segregated with the same specific phenotypes in eight patients from the four families, and the association of the pathogenicity of truncations with syndromic microphthalmia in previous studies, all support a novel association of BMP4 truncations with a specific form of pathologic myopia. The data presented in this study demonstrated that heterozygous BMP4 truncations contributed to a novel phenotype: pathologic myopia rather than microphthalmia. Mutations in the same gene resulting in both high myopia and microphthalmia have been observed for a few other genes like FZD5 and PAX6, suggesting bidirectional roles of these genes in early ocular development. Further studies are expected to elucidate the molecular mechanism of the bidirectional regulation.

Dataset Information

Fluorescein Leakage within Recent Subretinal Hemorrhage in Pathologic Myopia: Suggestive of CNV?

Purpose

Methods

Results

Conclusions

Publications

Fluorescein Leakage within Recent Subretinal Hemorrhage in Pathologic Myopia: Suggestive of CNV?

Similar Datasets

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