Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Moravikova, Jana; Honzík, Tomáš; Jadvidzakova, Eva; Zdrahalova, Katerina; Pourová, Radka Kremlíková; Korbasova, Marta; Lišková, Petra; Ďuďáková, Ľubica

doi:10.1016/j.jaapos.2020.07.014

Cited by 4 publications

(4 citation statements)

References 24 publications

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“…Other previous cases of coinheritance of alleles in FTL and HFE have been described [9,18,19], but without comparing the relationship between HHCS phenotype in individuals with the same variants in FTL and HFE. It is important to note that heterozygosis in HFE is not uncommon in the Caucasian population, and about 25% of individuals are heterozygotic for c.187C>G (p.H63D).…”

Section: Discussionmentioning

confidence: 99%

“…Besides high serum ferritin without iron overload, the only clinical manifestation of HHCS is pediatric cataract formation. Several phenotypes have been described, but the most common is a bilateral cataract with axial and peripheral white flecks with small crystalline aggregates [3,5,8,9]. Cataract formation and symptoms are commonly seen in childhood or adolescence, even though congenital cases have been described previously [5].…”

Section: Introductionmentioning

confidence: 99%

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Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

Zin,

Neves,

Cunha

et al. 2023

IJMS

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Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in HFE, the gene associated with autosomal recessive inheritance hereditary hemochromatosis. Whole-exome sequencing was performed in eight individuals with HHCS from three different families, as well as one unaffected member from each family for trio analysis—a total of eleven individuals. Ophthalmological and clinical genetic evaluations were conducted. The likely pathogenic variant c.-157G>A in FTL was found in all affected individuals. They presented slowly progressing bilateral cataract symptoms before the age of 14, with a phenotype of varied bilateral diffuse opacities. Hyperferritinemia was present in all affected members, varying from 971 ng/mL to 4899 ng/mL. There were two affected individuals with one concurrent pathogenic variant in HFE (c.187C>G, p.H63D), who were also the ones with the highest values of serum ferritin in our cohort. Few publications describe individuals with pathogenic mutations in both FTL and HFE genes, and further studies are needed to assess possible phenotypic interactions causing higher values of hyperferritinemia.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

Zin,

Neves,

Cunha

et al. 2023

IJMS

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“…The alliance of Ce02 NPs and biodegradable thermosensitive polymer, poly-dl-lactide-coglycolide-b-ethylene glycol-b-dl-lactide-coglycolide (PLGA-PEG-PLGA), with the pivotal function of maintaining transparency as an antioxidant with glycation inhibitor for REDOX vicious cycle. In vivo exact mechanism still can´t be clarified, but every single path brings us closer to the truth [96][97][98][99][100][101][102][103][104][105][106][107][108][109][110].…”

Section: Oxidative Stress As a Key Element In Cataract Formationmentioning

confidence: 99%

Reactive Oxygen Species and Eye Aging in Cataracts through Biomolecular Mechanisms

Pacheco

2022

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The cataractogenesis process and the novel mechanisms involved in its progression make us question that the only solution today presented for its resolution is through a surgical procedure. The unveiling of such interesting and intricate machinery in the lens opacification occupies not only the ophthalmologists field, but also biology, molecular, and biochemistry areas. The animal models, experimental and theoretically, have done their best try to present what appears to be an irreparable and unstoppable process nowadays. The crystalline lens opacification is chronic and progressively damaged due to the loss of balance between the production and elimination of free reactive oxygen species (ROS), the attempts to stop or slow down this overproduction or lack of elimination lie in study material from disciplines as complex as cancer pathways. The execution of this review article was possible through metasearch engines like Wiley Online Library, EBSCO, Cochrane, Clinical key and MEDLINE PubMed (National Library of Medicine, National Institutes of Health), to retrieve studies from January 2021 to January 2022, following PRISMA guidelines, with a special affinity to systematic reviews and meta-analysis. MeSH Terms associated with "Cataract AND Reactive Oxygen Species". This work constitutes an integral cataractogenesis view in the development of future therapeutic scopes. The world population especially in Europe is aging at a rapid rate, in this sense is necessary to consider a root potential solution and not palliative strategies in ophthalmology for the next generations. The compendium of procedures presented already supposed to open a new panorama to a clearer world, a world without senile cataracts. Time is vision.

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“…The deposits are light-diffracting and impede the correct focus by the patient. In this disease, cataracts are bilateral and usually appear at early ages, however, the visual impairment is slight and patients may not need a surgical intervention until they reach adult age [ 14 , 15 ]. Moreover, the morphology of the HHCS cataracts is highly distinctive from other cataract types with scattered central and peripheral cystic flecks in the cortex and nucleus and small crystalline aggregates.…”

Section: Physiopathology Of Hhcsmentioning

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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Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Cited by 4 publications

References 24 publications

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

Reactive Oxygen Species and Eye Aging in Cataracts through Biomolecular Mechanisms

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

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