Clinical Features of Affected and Undetached Fellow Eyes in Patients With Fevr-Associated Rhegmatogenous Retinal Detachment

Yuan, Miner; Ding, Xiaoyan; Yu, Yang; Liu, Fang; Li, Jiaqing; Liang, Xiaoling; Zhang, Xiongze; Hu, Andina; Li, Zijing; Zhan, Zongyi; Lü, Lin

doi:10.1097/iae.0000000000001171

Cited by 17 publications

(22 citation statements)

References 19 publications

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“…These mutations were detected most frequently in retinal vessel disease (43%, 46/108 patients) and also were present in seven of the 28 probands who were initially diagnosed with retinal detachment. Patients with FEVR are at high risk of retinal detachment, 49,50 but how often retinal detachment may be associated with FEVR is unknown, and corroboration by genetic diagnostic evidence is especially rare. Our results confirmed that FEVR is a common primary cause of retinal detachment.…”

Section: Discussionmentioning

confidence: 99%

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

Wang

Sun

et al. 2019

Trans. Vis. Sci. Tech.

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Purpose We evaluate the power of a next-generation sequencing-based ophthalmic targeted sequencing panel (NGS-based OTSP) as a genetics-testing tool for patients suspected of a wide range of hereditary eye diseases. Methods NGS-based OTSP encompasses 126 genes with identified mutations that account for the majority of Chinese families with hereditary eye diseases. A total of 568 probands suspected of having hereditary eye diseases underwent genetic testing by OTSP with targeted phenotype-driven analysis. Results NGS-based OTSP detected 329 potential pathogenic variants in 62 genes. These mutations might represent the genetic cause in 52% (293/568) of probands suspected of having hereditary eye diseases. Within the disease subgroups, the detection rates were 61% (124/202) for retinal degeneration disease, 53% (35/66) for eye tumors, 49% (53/108) for retinal vessel disease, 46% (13/28) for retinal detachment, 33% (19/58) for significant refractive error, 35% (16/46) for optic atrophy, 48% (11/23) for anterior segment dysgenesis, and 59% (22/37) for other hereditary eye diseases. These detection rates are comparable to those obtained in our previous study performed with whole exome sequencing. Mutations in the same gene were detected in different forms of hereditary eye diseases. The average turnaround time for OTSP is 30 days, and the average cost is 139 USD per patient. Conclusions NGS-based OTSP is a powerful tool for routine clinical genetic diagnostic testing in patients suspected of having hereditary eye diseases. Translational Relevance NGS-based OTSP can be used as a routine clinical test to improve the genetic counseling and medical care of patients suspected of having hereditary eye diseases.

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Section: Discussionmentioning

confidence: 99%

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

Wang

Sun

et al. 2019

Trans. Vis. Sci. Tech.

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“…[15][16][17][18] Previously, a few reports have suggested FEVR as one of the causes of RRD, although the causality is still unknown. [2][3][4][5] In the current study, we performed a crosssectional study focusing on not only the clinical but also the genetic characteristics of FEVR-RRD. To the best of our knowledge, our results identify for the first time the genetic profiles of patients clinically diagnosed with FEVR-RRD.…”

Section: Discussionmentioning

confidence: 99%

“…(1) The diagnosis of FEVR was determined by funduscopy and FFA in fellow eyes in accordance with previous studies. 5,8 Peripheral avascular areas, extensive branching, or dragging of the vessels in fellow eyes was required in unilateral RRD patients. (2) A positive family history of diagnosed FEVR was required in bilateral RRD patients.…”

Section: Methodsmentioning

confidence: 99%

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Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment

Chen

Wang

Sun

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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The purpose of this study was to investigate the genetic mutation spectrum in Chinese patients with familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment (FEVR-RRD) and to analyze the preliminary genotype-phenotype association. METHODS. In this consecutive, cross-sectional study, 54 patients with FEVR-RRD were studied. Comprehensive ophthalmic examinations and targeted next-generation sequencing were performed in all patients. The genotype-phenotype association was also analyzed. RESULTS. Causative mutations were identified in 38.9% (21/54) of patients (14/54 in LRP5, 4/ 54 in FDZ4, and 3/54 in TSPAN12). The study identified 22 potentially pathogenic mutations in 21 unrelated FEVR probands, and 14 were novel (10/15 in LRP5, 1/4 in FZD4, and 3/3 in TSPAN12). Furthermore, to explore the genotype-phenotype association, late-phase angiographic posterior and peripheral leakage (LAPPEL) was identified in 100% (4/4) of patients with FZD4 mutations and 100% (3/3) of patients with TSPAN12 mutations but only in 42.9% (6/14) of patients with LRP5 mutations. Extraretinal neovascularization (ERNV) was found in 100% (4/4) of patients with FZD4 mutations and in 66.7% (2/3) of patients with TSPAN12 mutations, but only in 21.4% (3/14) of patients with LRP5 mutations. CONCLUSIONS. The positive rate for pathogenic mutations in the known FEVR-associated genes was 38.9% (21/54). Among the mutations, LRP5 mutation was the predominant, accounting for 66.7% (14/21) of genetic positive patients. Patients with FEVR-RRD due to LRP5 mutations have less retinal vascular leakage or neovasculization than do patients with FEVR-RRD due to TSPAN12/FZD4 mutations. Moreover, 14 novel variants were found, which provided a deeper understanding of this disease.

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“…However, this method alone is inadequate for prenatally diagnosing FEVR because of the complexity of the condition. Up to 26% of mutation carriers have non‐penetrance (Boonstra et al, ), and family members often have varying degrees of disease severity (Pendergast & Trese, ; Ranchod et al, ; Yuan et al, ). Additionally, mutation severity does not seem to be correlated with phenotype severity.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease

Liu

Zhu

Jy³

et al. 2018

Molec Gen & Gen Med

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Background Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal genetic testing and ultrasound in the diagnosis and counseling of FEVR and ND. Methods Amniocentesis and ultrasonography were performed in high‐risk mothers, with children having FEVR or ND, to predict severe ocular abnormalities. Results Case 1: A homozygous NDP mutation (c.376T>C, NM_000266) was detected in the proband and his mother. Molecular prenatal analysis of the fetal DNA revealed no mutations. No ocular abnormalities were detected on ultrasonography. The pregnancy progressed uneventfully to a normal outcome. Case 2: A novel heterozygous FZD4 mutation (c.1010dupA, NM_012193) was detected in the proband and his mother. The same mutation was detected in the fetus, but ultrasonography showed no ocular abnormalities. A healthy baby boy with stage 1 FEVR was born after an uneventful pregnancy. Case 3: Deletions of exons 2 and 3 in the NDP were found in the proband and his mother. The same deletion mutation was detected in the female fetus, but the ultrasound scan was normal. The pregnancy progressed uneventfully to a normal outcome. Conclusions To our knowledge, antenatal genetic analyses were used in conjunction with ultrasound for the first time, to diagnose FEVR and ND, and predict the postnatal prognoses in at‐risk babies.

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Clinical Features of Affected and Undetached Fellow Eyes in Patients With Fevr-Associated Rhegmatogenous Retinal Detachment

Cited by 17 publications

References 19 publications

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease

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