Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

Tian, Tian; Chen, Chunli; Zhang, Xiang; Zhang, Qi; Zhao, Peiquan

doi:10.1001/jamaophthalmol.2019.1493

Cited by 30 publications

(28 citation statements)

References 17 publications

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“…A genotype–phenotype correlation of LRP5 variant has been previously observed. Variants associated with high bone mineral density which represents the gain‐of‐function phenotype (Bollerslev et al, 2013; Costantini et al, 2017; Gregson et al, 2016; Little et al, 2002; Van Wesenbeeck et al, 2003) are confined to the first YWTD β‐propeller domain, whereas variants associated with FEVR, which represents the loss‐of‐function phenotype (Chen et al, 2020; Chen et al, 2019; Tian et al, 2019; Wang et al, 2019) are confined to the second to fourth YWTD β‐propeller domain and the LDL domain (Figure 3). Currently, no variants in the fourth EGF domain have been reported to date other than the p.(Val1245Met) variant described herein.…”

Section: Discussionmentioning

confidence: 99%

Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder

Yamada

Kubota

Uchida

et al. 2021

American J of Med Genetics Pt A

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The LRP5 gene encodes a Wnt signaling receptor to which Wnt binds directly. In humans, pathogenic monoallelic variants in LRP5 have been associated with increased bone density and exudative vitreoretinopathy. In mice, LRP5 plays a role in tooth development, including periodontal tissue stability and cementum formation. Here, we report a 14‐year‐old patient with a de novo non‐synonymous variant, p.(Val1245Met), in LRP5 who exhibited mildly reduced bone density and mild exudative vitreoretinopathy together with a previously unreported phenotype consisting of dental abnormalities that included fork‐like small incisors with short roots and an anterior open bite, molars with a single root, and severe taurodontism. In that exudative vitreoretinopathy has been reported to be associated with heterozygous loss‐of‐function variants of LRP5 and that our patient reported here with the p.(Val1245Met) variant had mild exudative vitreoretinopathy, the variant can be considered as an incomplete loss‐of‐function variant. Alternatively, the p.(Val1245Met) variant can be considered as exerting a dominant‐negative effect, as no patients with truncating LRP5 variants and exudative vitreoretinopathy have been reported to exhibit dental anomalies. The documentation of dental anomalies in the presently reported patient strongly supports the notion that LRP5 plays a critical role in odontogenesis in humans, similar to its role in mice.

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Section: Discussionmentioning

confidence: 99%

Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder

Yamada

Kubota

Uchida

et al. 2021

American J of Med Genetics Pt A

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“…Patients can present at any age depending on the severity of the disease, but a critical feature is the lack of prematurity. Asymmetric disease is not uncommon in FEVR; patients may have mild or no disease in 1 eye with severe disease in the fellow eye [ 3 , 4 , 5 ]. RD in FEVR can be rhegmatogenous, tractional, or serous and are reportedly found in 21–64% of individuals [ 3 , 4 , 5 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…Asymmetric disease is not uncommon in FEVR; patients may have mild or no disease in 1 eye with severe disease in the fellow eye [ 3 , 4 , 5 ]. RD in FEVR can be rhegmatogenous, tractional, or serous and are reportedly found in 21–64% of individuals [ 3 , 4 , 5 , 6 ]. As was seen in our patient, when advanced tractional RD progresses to form a radial fold in the retina, it represents one of the classic features of severe FEVR, described as a “falciform” variant (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…This disease was first described in 1969 by Criswick and Schepens [ 1 ] and is typically thought to be bilateral. However, disease asymmetry is typical and variable phenotypic expressivity of retinal abnormalities may result in unilateral FEVR [ 2 , 3 , 4 , 5 , 6 ]. FEVR may masquerade as other retinal disorders as its features range from avascularity of the peripheral retina to retinal folds and detachments [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

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Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology

Boal

Distefano

Christiansen

et al. 2021

Case Rep Ophthalmol

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We report a case of a newborn with unilateral retinal detachment that could not be repaired. At examination under anesthesia, the retina was markedly abnormal and a presumptive diagnosis of retinal dysplasia was made. Several years later, the eye was enucleated because it was blind and painful. Final pathology was consistent with familial exudative vitreoretinopathy (FEVR). The literature describing unilateral retinal dysplasia is sparse. This case adds to the clinical spectrum of pathologic findings in FEVR.

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“…In regard to the underlying causes, the patient in this study had no history of premature birth or systemic pigmentation anomaly, thus making both ROP and incontinentia pigmenti unlikely causes. Although FEVR is usually bilateral and familial, there have been reports of unilateral cases or cases without a clear family history [7]. Shukla et al [8] reported mild cases of FEVR that were characterized by the absence of change in the posterior pole, as well as multi-branched/linear retinal vessels in the periphery and avascular areas, which are less obvious findings.…”

Section: Discussionmentioning

confidence: 99%

A case of tractional retinal detachment associated with congenital retinal vascular hypoplasia in the superotemporal quadrant treated by vitreous surgery

et al. 2020

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Background Here we report a case of traction retinal detachment (TRD) associated with congenital retinal vascular hypoplasia localized in the superotemporal quadrant that was treated with vitrectomy. Case presentations A 58 year-old female presented with a gradual decrease of visual acuity (VA) and distorted vision in her left eye. She had a past history of amblyopia in her left eye from early childhood, and a previous examination performed at a nearby hospital revealed that the corrected visual acuity (VA) in that eye was 0.15. Upon initial examination, no abnormal findings were observed in her right eye, yet optic-disc traction and macular rotation with a folded TRD extending superotemporally from the macular region was observed in her left eye. Fluorescein fundus angiography showed a retinal nonperfused area localized in the superotemporal quadrant surrounded by a retinal avascular area. The optic disc in her left eye was smaller than that in her right eye. Vitrectomy was performed to remove the proliferative membrane and created an artificial posterior vitreous detachment (PVD). Following surgery, the patient’s corrected VA improved from 0.04 to 0.1. Conclusions The present case was likely to be TRD caused by PVD in the presence of localized congenital retinal vascular hypoplasia secondary to optic-disc hypoplasia.

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Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort

Cited by 30 publications

References 17 publications

Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder

Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder

Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology

A case of tractional retinal detachment associated with congenital retinal vascular hypoplasia in the superotemporal quadrant treated by vitreous surgery

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