Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome

Wilson, Martin C.; McDonald‐McGinn, Donna M.; Quinn, Graham E.; Markowitz, Gary D; LaRossa, Donato; Päcuraru, Anca D.; Zhu, Xiaosong; Zackai, Elaine H.

doi:10.1016/s0002-9394(14)70494-5

Cited by 19 publications

(5 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…51,52 Examples of clearly genetic congenital refractive errors include the congenital and non-progressive myopia associated with Stickler's syndrome 53 and Leber's amaurosis. 54 In such cases there appears to be a strong genetic bias away from emmetropia and the large initial refractive errors remain largely unmodified by any emmetropisation mechanism.…”

Section: Clinical Examples Of a Failure Of Emmetropisationmentioning

confidence: 99%

Emmetropisation and the aetiology of refractive errors

Flitcroft

2014

Eye

146

124

View full text Add to dashboard Cite

The distribution of human refractive errors displays features that are not commonly seen in other biological variables. Compared with the more typical Gaussian distribution, adult refraction within a population typically has a negative skew and increased kurtosis (ie is leptokurtotic). This distribution arises from two apparently conflicting tendencies, first, the existence of a mechanism to control eye growth during infancy so as to bring refraction towards emmetropia/low hyperopia (ie emmetropisation) and second, the tendency of many human populations to develop myopia during later childhood and into adulthood. The distribution of refraction therefore changes significantly with age. Analysis of the processes involved in shaping refractive development allows for the creation of a life course model of refractive development. Monte Carlo simulations based on such a model can recreate the variation of refractive distributions seen from birth to adulthood and the impact of increasing myopia prevalence on refractive error distributions in Asia.

show abstract

Section: Clinical Examples Of a Failure Of Emmetropisationmentioning

confidence: 99%

Emmetropisation and the aetiology of refractive errors

Flitcroft

2014

Eye

146

124

View full text Add to dashboard Cite

show abstract

“…Myopia ranged from À8.00 D to À18.00 D in Stickler's original report (Stickler et al, 1965), but in other reports the mean cycloplegic refraction was À5.00 D (Wilson et al, 1996). Among the patients in this study, the age of the first cycloplegic refraction examination ranged from eight months to 35 months with an average of 25 months.…”

Section: Discussionmentioning

confidence: 56%

Visual complications of Stickler syndrome in paediatric patients with Robin sequence

Huang

Kuo

Hsieh

et al. 2007

Journal of Cranio-Maxillofacial Surgery

View full text Add to dashboard Cite

“…Genetic analysis, therefore, is an important tool for the diagnosis of Stickler syndrome, particularly in patients with myopia and peripheral retinal degeneration ( 12 , 39 , 45 - 47 ). Early diagnosis and close-follow up will help to decrease the incidence of the retinal detachment ( 3 , 38 ). Currently, the Cambridge prophylactic cryotherapy protocol has been demonstrated to be a safe intervention and can markedly reduce the risk of retinal detachment in patients with Stickler syndrome ( 48 ).…”

Section: Discussionmentioning

confidence: 99%

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

et al. 2018

View full text Add to dashboard Cite

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early-onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested as bilateral retinal detachment and peripheral retinal degeneration. Complete ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination and fundus examination, were performed. Genomic DNA was extracted from leukocytes of the peripheral blood collected from the patients, their unaffected family members and 200 unrelated control subjects from the same population. Next-generation sequencing of established genes associated with ocular disease was performed. A heterozygous collagen type II α1 chain (COL2A1) mutation c.1310G>C (p.R437P) in exon 21 was identified in Family 1 and a heterozygous COL2A1 mutation c.2302-1G>A in intron 34 was identified in Family 2. The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) analysis. The c.1310G>C mutation was predicted to damage protein structure and function, and the c.2302-1G>A mutation was predicted to result in a splicing defect. The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome.

show abstract

Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome

Cited by 19 publications

References 1 publication

Emmetropisation and the aetiology of refractive errors

Emmetropisation and the aetiology of refractive errors

Visual complications of Stickler syndrome in paediatric patients with Robin sequence

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Contact Info

Product

Resources

About