Visual complications of Stickler syndrome in paediatric patients with Robin sequence

Huang, Fay; Kuo, Hsi-Kung; Hsieh, Ching‐Hua; Lai, Jui‐Yang; Chen, Philip Kuo-Tin

doi:10.1016/j.jcms.2007.01.001

Cited by 18 publications

(10 citation statements)

References 17 publications

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“…The systemic symptoms of Stickler syndrome include hearing loss, a cleft palate, epiphyseal dysplasia, and degeneration, similar to arthritis [ 1 ]. Stickler syndrome is one of the vitreoretinal dystrophies that often complicates with rhegmatogenous retinal detachment [ 4 , 5 , 6 ]. The most important differential diagnosis includes Wagner disease, which is very similar to Stickler syndrome in regard to ocular findings.…”

Section: Discussionmentioning

confidence: 99%

“…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: 99%

“…In regard to the prevalence of this disorder, it reportedly affects approximately 1 in every 10,000 persons [ 3 ]. 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 ].…”

Section: Introductionmentioning

confidence: 99%

“…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: 99%

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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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

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“…[ 4 5 ] The ocular features associated with Stickler syndrome include congenital axial myopia, vitreous degeneration, retinal degeneration, and a high incidence of retinal detachments. [ 5 6 ] Pediatric retinal detachment is always the most difficult case for repair with a poor prognosis. [ 5 6 7 8 ] Early detection of Stickler syndrome and prophylactic treatment of ocular complications associated with high myopia are important.…”

Section: Introductionmentioning

confidence: 99%

Mutation survey in Taiwanese patients with Stickler syndrome

Kuo

Huang

Wang

et al. 2022

Taiwan Journal of Ophthalmology

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PURPOSE: The purpose of this study was to identify gene mutation and phenotype correlations in a cohort of Taiwanese patients with Stickler syndrome. MATERIALS AND METHODS: Patients clinically diagnosed with Stickler syndrome or suspected Stickler syndrome were enrolled. DNA was extracted from venous blood samples. For the targeted next-generation sequencing (NGS) approach, specific primers were designed for all COL2A1 , COL11A1 , COL11A2 , COL9A1 , and COL9A2 exons and flanking intron sequences. RESULTS: Twenty-three patients from 12 families were enrolled in this study. The myopia power in these 23 cases (35 eyes) ranged from −4.625 to −25.625 D, with a median of −10.00 D. Four patients had retinal detachment. Fourteen patients had a cleft palate. These 23 patients and 13 healthy controls were enrolled in the NGS study. Three families had significant single nucleotide variants (SNVs) in COL2A1 . The mutation rates in this survey were 25% (3/12 families) and 35% (8/23 cases). The SNV of family #1, located at exon 27, c.1753G >T, p. Gly585Val, was novel and has not yet been reported in the ClinVar database. Families #10 and #11 had the same SNV, located in exon 33, c.2101C >T, p. Arg701X. Both variants were classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. CONCLUSION: Genetic mutations in COL2A1 were found in 25% of Taiwanese families with Stickler syndrome. One novel variant was identified using NGS, which expanded the COL2A1 mutation spectrum. Molecular genetic analysis is helpful to confirm the clinical diagnosis of patients with suspected Stickler syndrome.

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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

Brizola

Gnoli

Tremosini

et al. 2020

Molec Gen & Gen Med

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Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthritis. COL2A1, COL11A1, and COL11A2 mutations account of the majority of autosomal dominant Stickler Syndrome and, in particular, a heterozygous mutation in COL11A1 gene is identified in about 10 to 20% of Stickler Syndrome patients. Methods Herein, we report a case of an 8‐year‐ old child with Stickler Syndrome, presenting with early‐onset of myopia with vitreal abnormalities, facial dysmorphic characteristics, and mild hearing loss later in childhood. To identify the underlying genetic cause, Whole Exome Sequencing was carried out for COL11A1 gene. Results A novel de novo heterozygous splice site variant (NM_001854: c.1845 + 5G> C) of the COL11A1 gene, which had not been previously reported, was identified by Whole Exome Sequencing. Conclusion We reported a novel COL11A1 mutation in a child with Stickler Syndrome presenting a phenotype of early‐onset of ocular anomalies and mild hearing loss later in childhood. Our findings confirm the variability of the expression of the disease, even in the contest of the same gene‐related disorder, thus, contributing to improve the knowledge on clinical and molecular basis of this rare disease.

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Visual complications of Stickler syndrome in paediatric patients with Robin sequence

Cited by 18 publications

References 17 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

Mutation survey in Taiwanese patients with Stickler syndrome

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

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