FTL c.-168G&gt;C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

Ferro, Elisa; Capra, Anna Paola; Zirilli, Giuseppina; Meduri, Alessandro; Urso, Mario; Briuglia, Silvana; Rosa, Maria Angela La

doi:10.1177/1093526618755200

Cited by 7 publications

(5 citation statements)

References 21 publications

(27 reference statements)

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“…Infants in neonatal intensive care unit (NICU) have greater chances of developing sensorineural hearing loss (SNHL) because of the presence of multiple risk factors [ 12 ]. It has been reported that hereditary hyperferritinemia cataract syndrome (HHCS) should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation [ 13 ]. In some infants and young children due to the dense opacity of the posterior lens capsule, it is often necessary to increase the laser energy or increase the number of firings, which may aggravate the degree of damage of corneal endothelial cells and iris tissue and increase the incidence of complications [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Selection Of Different Types Of Posteriormentioning

confidence: 99%

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Management of Aphakia with Visual Axis Opacification after Congenital Cataract Surgery Based on UBM Image Features Analysis

Chen

He²,

Xiang

2020

Journal of Ophthalmology

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Objective. The purpose of this study was to study the imaging features of ultrasound biomicroscopy (UBM) in the aphakia with visual axis opacification (VAO) after congenital cataract surgery. Methods. From May 2015 to May 2018, aphakia patients with VAO who underwent congenital cataract surgery were examined by high-resolution bag/balloon UBM technique, and the results of UBM imaging were analyzed. According to UBM imaging features, different types of VAO were classified. Results. A total of 38 children (55 eyes) with VAO were included. 17 patients were bilateral, and 21 patients were unilateral. Patients with VAO were classified into 3 groups according to the UBM imaging features: membranous fibrosis VOA (17 cases, 28 eyes), cortical regeneration VOA (15 cases, 20 eyes), and mixed VOA (6 cases, 7 eyes). The patients in the membranous fibrosis group underwent Nd:YAG laser posterior capsulotomy, those in the cortical regeneration group underwent anterior vitrectomy, and those in the mixed type group underwent anterior vitrectomy with RF capsulotomy tip. After surgery, VAO were removed in all patients. During the follow-up period, in the membranous fibrotic VAO group, iris adhesion and pupillary occlusion were found in 2 eyes, and anterior vitrectomy combined with separation of iris adhesion was performed. In cortical regenerative and mixed type VAO groups, anterior vitrectomy was performed without opacity in the axial region. The total recurrence rate of VAO was 3.46%. Conclusion. After congenital cataract surgery, the UBM imaging features of aphakia with VAO are helpful to evaluate the condition of VAO before reoperation so as to choose the optimal surgical method to achieve better therapeutic effect.

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Section: Discussionmentioning

confidence: 99%

Section: Selection Of Different Types Of Posteriormentioning

confidence: 99%

Management of Aphakia with Visual Axis Opacification after Congenital Cataract Surgery Based on UBM Image Features Analysis

Chen

He²,

Xiang

2020

Journal of Ophthalmology

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“…However, our study does have several limitations. First, the sample size was relatively small, only the Chinese population was screened, and, compared with other small size group research, our description of family history and clinical symptoms is not comprehensive enough [50][51][52]. In addition, some research indicated that the mutation of WFS1 may also cause cataract, so we cannot exclude the possibility that the joint action of the CRYGD and WFS1 cause cataract and iris coloboma [37,53,54].…”

Section: Journal Of Ophthalmologymentioning

confidence: 99%

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

Lü

Guo

et al. 2020

Journal of Ophthalmology

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Purpose. To screen out pathogenic genes in a Chinese family with congenital cataract and iris coloboma. Material and Methods. A three-generation family with congenital cataract and iris coloboma from a Han ethnicity was recruited. DNA was extracted from peripheral blood samples collected from all individuals in the family. Whole exon sequencing was employed for screening the disease-causing gene mutations in the proband, and Sanger sequencing was used for other members of the family and a control group of 500 healthy individuals. Bioinformatics analysis and three-dimensional structure predictions were used to predict the impact of amino acid changes on protein structure and function. Results. The candidate genes of cataract and iris coloboma were successfully screened out. A heterozygote mutation, CRYGD c.70C>A (p.P24T), was identified as cosegregating with congenital cataracts, while another heterozygous mutation, WFS1 c.1514G>C (p.C505S), which had not been reported previously, cosegregated with congenital iris coloboma. Bioinformatic analyses and three-dimensional structure prediction proved that the three-dimensional structures of WFS1 p.C505S and CRYGD p.P24T changed markedly and may contribute significantly to iris coloboma and congenital cataract, respectively. Conclusions. We report a novel mutation, WFS1 p.C505S, and a known mutation, CRYGD p.P24T, that cosegregate with iris coloboma and congenital cataract, respectively, in a Chinese family. This is the first time the association of WFS1 p.C505S with iris coloboma has been demonstrated, although CRYGD p.P24T has been widely reported as being associated with congenital cataract, especially in the Eastern Asian population. These findings may have future therapeutic benefit for the diagnosis of iris coloboma and congenital cataract. The results may also be relevant in further studies aiming to investigate the molecular pathogenesis of iris coloboma and congenital cataract.

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“…However, this number is probably underestimated because the disorder is often misdiagnosed as hereditary hemochromatosis due to hyperferritinemia, despite the absence of iron overload [ 3 ]. Actually, investigators often find out new cases with previously reported mutations, as in the case of Ferro and collaborators that described an Italian family [ 4 ]; for this reason, it is an important differential diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Nos

Hernández

Ferrer‐Cortès

et al. 2021

IJMS

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Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated regions (UTR) of the light ferritin (FTL) gene. A canonical IRE is a mRNA structure that interacts with the iron regulatory proteins (IRP1 and IRP2) to post-transcriptionally regulate the expression of proteins related to iron metabolism. Ferritin L and H are the proteins responsible for iron storage and intracellular distribution. Mutations in the FTL IRE abrogate the interaction of FTL mRNA with the IRPs, and de-repress the expression of FTL protein. Subsequently, there is an overproduction of ferritin that accumulates in serum (hyperferritinemia) and excess ferritin precipitates in the lens, producing cataracts. To illustrate this disease, we report two new families affected with hereditary hyperferritinemia-cataract syndrome with previous known mutations. In the diagnosis of congenital bilateral cataracts, HHCS should be taken into consideration and, therefore, it is important to test serum ferritin levels in patients with cataracts.

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FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

Cited by 7 publications

References 21 publications

Management of Aphakia with Visual Axis Opacification after Congenital Cataract Surgery Based on UBM Image Features Analysis

Management of Aphakia with Visual Axis Opacification after Congenital Cataract Surgery Based on UBM Image Features Analysis

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

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