Stickler syndrome. Epidemiology of retinal detachment

Vilaplana, F.; Muiños, S.J.; Nadal, Jeroni; Elizalde, Javier; Mojal, Sergi

doi:10.1016/j.oftale.2015.06.004

Cited by 5 publications

(5 citation statements)

References 13 publications

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“…Ocular findings of Stickler syndrome include severe and progressive myopia, vitreous liquefaction and degeneration, and retinal breaks and detachment [4][5][6]. Previous studies have reported a high risk of rhegmatogenous retinal detachment in this syndrome [5][6][7][8]. The purpose of this present study was to report Stickler syndrome in one family in which rhegmatogenous retinal detachment developed in 5 eyes of 3 siblings.…”

Section: Introductionmentioning

confidence: 81%

“…It has been reported that in Stickler syndrome cases with the group of symptoms described above, the disorder is complicated with a high rate of rhegmatogenous retinal detachment [4][5][6][7][8]. In cases of rhegmatogenous retinal detachment associated with Stickler syndrome, there is a high degree of vitreous liquefaction and degeneration, so retinal detachment progresses faster with advancing age [6].…”

Section: Discussionmentioning

confidence: 96%

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Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings

Kimura¹,

Sato²,

Oosuka³

et al. 2018

Case Rep Ophthalmol

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Purpose: Stickler syndrome is an autosomal dominant inherited disorder that is well known to be highly associated with the development of rhegmatogenous retinal detachment. In this study, we report the case of a family affected by Stickler syndrome in which rhegmatogenous retinal detachment developed in 5 eyes of 3 siblings. Case Series: For treatment, we performed vitreous surgery on 1 eye of the eldest son, and bilateral scleral buckling surgery on the 2 younger children. A good postoperative outcome was obtained on the 4 eyes that underwent scleral buckling surgery, yet the prognosis was poor on the 1 eye that underwent vitrectomy due to redetachment of the retina and corneal complication. Since vitreous surgery was quite difficult due to strong vitreoretinal adhesion, we created an artificial posterior vitreous detachment via the bimanual technique combined with encircling. For the scleral buckling surgery, broad scleral extrusion was needed to seal multiple retinal breaks. Conclusions: The findings of this study showed a high prevalence of rhegmatogenous retinal detachment in a single family with Stickler syndrome. In these cases, scleral buckling surgery was effective for treating the detached retina, and some prophylactic treatment, such as laser photocoagulation to prevent the occurrence of rhegmatogenous retinal detachment, should be considered for such cases in the future.

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Section: Introductionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 96%

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings

Kimura¹,

Sato²,

Oosuka³

et al. 2018

Case Rep Ophthalmol

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“…Separation of the neural retina from its supportive structures can lead to significant visual defects [ 47 – 52 ]. The microvilli-rich apical domains of RPE cells, which form the outermost layer of the retina, interdigitate with the photoreceptor outer segments.…”

Section: Resultsmentioning

confidence: 99%

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion

Zhao

Umapathy

et al. 2022

PLoS ONE

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Chediak–Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of lysosomes and lysosome-related organelles. Although recent studies have suggested that Lyst mutations impair the regulation of sizes of lysosome and lysosome-related organelle, the underlying pathogenic mechanism of Chediak–Higashi syndrome is still unclear. Here we show striking evidence that deficiency in LYST protein function leads to accumulation of photoreceptor outer segment phagosomes in retinal pigment epithelial cells, and reduces adhesion between photoreceptor outer segment and retinal pigment epithelial cells in a mouse model of Chediak–Higashi syndrome. In addition, we observe elevated levels of cathepsins, matrix metallopeptidase (MMP) 3 and oxidative stress markers in the retinal pigment epithelium of Lyst mutants. Previous reports showed that impaired degradation of photoreceptor outer segment phagosomes causes elevated oxidative stress, which could consequently lead to increases of cysteine cathepsins and MMPs in the extracellular matrix. Taken together, we conclude that the loss of LYST function causes accumulation of phagosomes in the retinal pigment epithelium and elevation of several extracellular matrix-remodeling proteases through oxidative stress, which may, in turn, reduce retinal adhesion. Our work reveals previously unreported pathogenic events in the retinal pigment epithelium caused by Lyst deficiency. The same pathogenic events may be conserved in other professional phagocytic cells, such as macrophages in the immune system, contributing to overall Chediak–Higashi syndrome pathology.

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“…The cause of retinal detachment with HL was highly diagnosed sign of Stickler syndrome [262]. it occurs primarily in the 2 nd period of life, with cataracts developing primarily in the fourth decade [264].This syndrome is further classified into type-1 and type-2 Stickler syndrome, and on the basis of vitreo-retinal phenotype, type-1 diagnosed with congenital vitreous irregularity and developed as mutations in COL2A1, whereas type-2 is diagnosed with congenital vitreo-retinal irregularity [265,266]. It is inherited either autosomal recessive or dominant inheritance pattern.…”

Section: Stickler Syndromementioning

confidence: 99%

<b>A Comprehensive</b> <b>Review on Inherited Sensorineural Hearing Loss and Their Syndromes</b>

Bukhari¹,

Ali²,

Noman³

2020

Preprint

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Hearing impairment is an immensely diagnosed genetic cause, 5% of the total world population effects with different kind of congenital hearing loss (HL). In third-world countries or countries where consanguineous marriages are more common the frequency rate of genetic disorders are at its zenith. Approximately, the incidence of hearing afflictions is ostensibly 7-8:1000 individuals whereas it is estimated that about 466 million peoples suffer with significant HL, and of theses deaf cases 34 million are children’s up to March, 2020. Several genes and colossal numbers of pathogenic variants cause hearing impairment, which aided in next-generation with recessive, dominant or X-linked inheritance traits. This review highlights on syndromic and non-syndromic HL (SHL and NSHL), and categorized as conductive, sensorineural and mixed HL, which having autosomal dominant and recessive, and X-linked or mitochondrial mode of inheritance. Many hundred genes involved in HL are reported, and their mutation spectrum becomes very wide. Mapping of pathogenic genes in consanguinity family is facilitated to understand the disease history. Review presents the bases of HL and also focused on various genetic factors that cause deafness like the basics of genetic inheritance, and classic and well-characterized inherited factors of it. It also overviews the application of linkage analysis, SNPs genotyping and whole exome sequencing methods, in mapping and identification of new locus, causative genes and their variants in families inherited with HL. Conclusively, this review supports researchers in understanding the location of chromosome, the causative genes and specific locus which causing deafness in humans.

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Stickler syndrome. Epidemiology of retinal detachment

Cited by 5 publications

References 13 publications

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion

<b>A Comprehensive</b> <b>Review on Inherited Sensorineural Hearing Loss and Their Syndromes</b>

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