Electrophysiological findings in familial exudative vitreoretinopathy

Ohkubo, Hirofumi; Tanino, T

doi:10.1007/bf00143048

Cited by 11 publications

(6 citation statements)

References 7 publications

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“… 41 , 45 Moreover, the nature of the retinal dystrophy shown by reduced ERG responses in eyes with KIF11 mutations is distinct from eyes with common FEVR in which the ERG responses are believed to be normal unless the RDs progresses. 46 , 47 …”

Section: Discussionmentioning

confidence: 99%

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene

Kondo

Matsushita

Nagata

et al. 2021

Trans. Vis. Sci. Tech.

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Purpose To determine the clinical characteristics of patients and family members with familial exudative vitreoretinopathy (FEVR) caused by mutations in the KIF11 gene. Methods Twenty-one patients from 10 FEVR families with mutations in the KIF11 gene were studied. The retinal and systemic features were examined. The genetic analyses performed included Sanger sequencing of the KIF11 gene, whole exome sequencing, as well as array comparative genomic hybridization (CGH) analysis and multiple ligation probe assay (MLPA). Results Sequence analysis revealed seven different KIF11 mutations. Array CGH with MLPA revealed two different exon deletions. All probands had advanced FEVR with retinal detachments (RDs) and microcephaly with or without developmental disabilities. Patients with bilateral RDs were more frequently associated with developmental disabilities ( P = 0.023). Multimodal imaging of the family members revealed that six of nine patients without RDs (66%) had varying degrees of chorioretinopathy. The retinal folds in FEVR patients were associated with severe retinal avascularization. However, funduscopic changes in the peripheral retina were unremarkable in family members without RDs. A score representing the peripheral vascular anomalies determined from the fluorescein angiograms was lower than that of control eyes of patients with mutations of the Wnt signaling genes ( P = 0.0029). Conclusions The probands with KIF11 mutations were associated with severe ocular and systemic pathologies, whereas affected family members showed highly variable clinical manifestations. Peripheral vascular anomalies can often be unremarkable in eyes without RDs. Translational Relevance These findings highlight more diverse mechanisms that underlie the pathological changes in patients with FEVR.

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Section: Discussionmentioning

confidence: 99%

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene

Kondo

Matsushita

Nagata

et al. 2021

Trans. Vis. Sci. Tech.

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“…41,42 Previously reported ERG findings indicate a range of severity of rod and cone dysfunction on ERG including normal ERG. 41,43 A detailed characterization of…”

Section: Discussionmentioning

confidence: 99%

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

Hull

Arno

Østergaard

et al. 2019

American Journal of Ophthalmology

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Familial exudative vitreoretinopathy (FEVR) is a rare finding in patients with genetic forms of microcephaly. This study documents the detailed phenotype and expands the range of genetic heterogeneity. Design Retrospective case-series Methods Twelve patients (ten families) with a diagnosis of FEVR and microcephaly were ascertained from pediatric genetic eye clinics and underwent full clinical assessment including retinal imaging. Molecular investigations included candidate gene Sanger sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS). Results All patients had reduced vision and nystagmus. Six were legally blind. Two probands carried bi-allelic LRP5 variants, both presenting with bilateral retinal folds. A novel homozygous splice variant, and two missense variants were identified. Subsequent bone density measurement, identified osteoporosis in one proband. Four families had heterozygous KIF11 variants. Two probands had a retinal fold in one eye and chorioretinal atrophy in the other; the other two had bilateral retinal folds. Four heterozygous variants were found, including two large deletions not identified on Sanger sequencing or WES. Finally, a family of two children with learning difficulties, abnormal peripheral retinal vasculogenesis and rod-cone dystrophy were investigated. They were found to have bi-allelic splicing variants in TUBGCP6. Three families remain unsolved following WES and WGS. Conclusions Molecular diagnosis has been achieved in seven of ten families investigated including a previously unrecognized association with LRP5. WGS enabled molecular diagnosis in three families after prior negative Sanger sequencing of the causative gene. This has enabled patient-specific care with targeted investigations and accurate family counseling.

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“…Previous studies of FEVR have confirmed that the fundus appearance progresses from retinal dragging (R drag ) to R folds , and the morphological features of R drag and R folds have been evaluated in detail by ophthalmoscopy, fundus photography, fluorocein angiography (FA), and optical coherence tomography 6 8 9 10 11 . However, the retinal function in eyes with R drag or R folds has been investigated by electroretinography (ERG) in only one study 12 .…”

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confidence: 99%

Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy

Yaguchi

Katagiri

Fukushima

et al. 2016

Sci Rep

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We evaluated the retinal function of retinal dragging (Rdrag) and radial retinal folds (Rfolds) in eyes with familial exudative vitreoretinopathy (FEVR) using full-field electroretinography (ERG). Seventeen eyes of nine patients with FEVR who had Rdrag or Rfolds were retrospectively studied. Eyes were classified into four groups according to the severity of the retinal alterations: Group 1, without Rdrag or Rfolds (5 eyes); Group 2, with Rdrag (4 eyes); Group 3, with Rfolds (6 eyes); and Group 4, with Rfolds in which all major retinal vessels were involved (2 eyes). The amplitudes of all ERG components and the implicit times of the photopic a- and b-waves and 30-Hz flicker responses were decreased or prolonged as the severity of the retinal alterations increased (P < 0.01). The photopic negative response was most severely affected and nearly undetectable in all eyes in Groups 3 and 4, although the other ERG components were detectable in all eyes in Group 3 and one eye in Group 4. These results suggest the decrease of retinal functions was correlated with the degree of severity of Rdrag and Rfolds in eyes with FEVR. In addition, the function of the retinal ganglion cells appears to be more severely affected compared with the others.

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Electrophysiological findings in familial exudative vitreoretinopathy

Cited by 11 publications

References 7 publications

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy

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