Bilateral Retinal Detachment in Werner Syndrome

Sasoh, Mikio; Tsukitome, Hideyuki; Matsui, Yoshitsugu; Furuta, Motoyasu; Kondo, Mineo

doi:10.1097/icb.0000000000000011

Cited by 4 publications

(3 citation statements)

References 6 publications

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“…However, there have been no data obtained by an extensive literature screening on the incidence of dyslipidemia and characteristics of dyslipidemia/fatty liver in Werner syndrome patients. To address this issue in the current edition of the guidelines, we screened cases reported on PubMed and Medical Online from 1996 to 2016 (98 articles, 119 cases), from which 44 cases (26 men with a mean age of 45.6 years) including some descriptions or data relating to either lipid or fatty liver in the articles were selected for analysis (reports before 2005: 26 cases) 8–43 . The detailed literature search method and process were as follows.…”

Section: Introductionmentioning

confidence: 99%

Management guideline for Werner syndrome 2020 1. Dyslipidemia and fatty liver associated with Werner syndrome

Tsukamoto

Takemoto

Kubota

et al. 2020

Geriatrics Gerontology Int

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For the purpose of examining the characteristics of dyslipidemia and fatty liver in patients with Werner syndrome in Japan in recent years, we searched all case reports of Japanese Werner syndrome reported on Medical Online and PubMed since 1996, and collected and examined the data and clinical features described in these reports. In addition, as there are few descriptions of treatment methods in these reports from Medical Online and PubMed, we analyzed 12 cases for which detailed data on treatment methods are available at Chiba University. Geriatr Gerontol Int 2021; 21: 133–138.

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Section: Introductionmentioning

confidence: 99%

Management guideline for Werner syndrome 2020 1. Dyslipidemia and fatty liver associated with Werner syndrome

Tsukamoto

Takemoto

Kubota

et al. 2020

Geriatrics Gerontology Int

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“…Inactivation of components of DNA replication machinery, DNA damage signaling pathways ( Frappart et al, 2005 ; Lee et al, 2012a , b ) as well as DNA repair factors ( Lee et al, 2000 ; Frappart and McKinnon, 2007 , 2008 ; Baranes et al, 2009 ) revealed different levels of CNS malformations. In contrast, even though congenital disorders caused by mutations in DDR genes exhibit retinal malformations ( Lim and Wong, 1973 ; Erdöl et al, 2003 ; Bhisitkul and Rizen, 2004 ; Chai et al, 2009 ; Krzyżanowska-Berkowska et al, 2014 ; Sasoh et al, 2014 ), the impact of defective DDR in retinogenesis and visual impairment still awaits investigation. Studies about the DNA damage signaling and repair factors revealed optic nerve morphological alterations in Nbn -deficient retinas, but loss of NBN and ATM did not impact retinal neurogenesis ( Baranes et al, 2009 ; Rodrigues et al, 2013 ).…”

Section: Discussionmentioning

confidence: 99%

RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis

Gomes

Matos-Rodrigues

Frappart

et al. 2020

Front. Cell Dev. Biol.

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Genomic instability in the central nervous system (CNS) is associated with defective neurodevelopment and neurodegeneration. Congenital human syndromes that affect the CNS development originate from mutations in genes of the DNA damage response (DDR) pathways. RINT1 (Rad50-interacting protein 1) is a partner of RAD50, that participates in the cellular responses to DNA double-strand breaks (DSB). Recently, we showed that Rint1 regulates cell survival in the developing brain and its loss led to premature lethality associated with genomic stability. To bypass the lethality of Rint1 inactivation in the embryonic brain and better understand the roles of RINT1 in CNS development, we conditionally inactivated Rint1 in retinal progenitor cells (RPCs) during embryogenesis. Rint1 loss led to accumulation of endogenous DNA damage, but RINT1 was not necessary for the cell cycle checkpoint activation in these neural progenitor cells. As a consequence, proliferating progenitors and postmitotic neurons underwent apoptosis causing defective neurogenesis of retinal ganglion cells, malformation of the optic nerve and blindness. Notably, inactivation of Trp53 prevented apoptosis of the RPCs and rescued the generation of retinal neurons and vision loss. Together, these results revealed an essential role for TRP53-mediated apoptosis in the malformations of the visual system caused by RINT1 loss and suggests that defective responses to DNA damage drive retinal malformations.

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“…In terms of eye-related complications, the positive rate of cataracts is 100% (with a 96% positive rate for cataracts in both eyes) [ 7 ]. Certain reports exist of patients with Werner syndrome with cystoid macular edema [ 8 , 9 ], bilateral retinal detachment [ 10 ], or primary bullous keratopathy [ 11 ]; however, few reports have documented the changes in the thickness of the retina and choroid. In healthy people, aging causes thinning of the retina and choroid [ 12 , 13 ] and similar changes are speculated to occur in patients with Werner syndrome.…”

Section: Introductionmentioning

confidence: 99%

Optical coherence tomography findings in three patients with Werner syndrome

et al. 2022

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Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images.

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Bilateral Retinal Detachment in Werner Syndrome

Abstract: Vitreoretinal changes found in this case might have been partially because of the premature aging associated with Werner syndrome.

Cited by 4 publications

References 6 publications

Management guideline for Werner syndrome 2020 1. Dyslipidemia and fatty liver associated with Werner syndrome

Management guideline for Werner syndrome 2020 1. Dyslipidemia and fatty liver associated with Werner syndrome

RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis

Optical coherence tomography findings in three patients with Werner syndrome

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