Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

Boysen, Kirstine B; Cour, Morten la; Kessel, Line

doi:10.1080/13816810.2020.1747092

Cited by 21 publications

(22 citation statements)

References 63 publications

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“…As the only entity designated as a national center (United Kingdom) for this rare disease, its Stickler population is diverse and its prevalence figures are likely higher quality data than cross-study reviews of much smaller reports having inconsistent diagnostic and inclusion criteria. 11 For example, 87.5% of clinically diagnosed Cambridge STL1 patients were subsequently proven as STL1 by genetic testing.…”

Section: Introductionmentioning

confidence: 99%

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)

Morris¹,

Parma²,

Robin³

et al. 2021

OPTH

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To introduce a novel technique of encircling laser prophylaxis (ora secunda cerclage Stickler syndrome, OSC/SS) to prevent rhegmatogenous retinal detachment (RRD) in Stickler syndrome eyes. Patients and Methods: After first eye RRD at age 50 and at age 18, respectively, a 53-yearold father and his 22-year-old son with type 2 SS (STL2) gave informed consent and underwent OSC/SS prophylaxis, performed in each fellow eye. A 26-year-old STL2 daughter then suffered first eye retinal detachment and similarly chose fellow eye OSC/SS prophylaxis. A second son, 28 years of age with STL2, chose OSC/SS prophylaxis in both eyes. Results: The three OSC/SS treated fellow eyes have gone 12 years, 11 years, and 8 years without RRD. STL1 and less common STL2 eyes are known to have a similar rate of RRD, and 80% of STL1 fellow eyes develop RRD at a median of 4 years in the absence of prophylaxis. Moreover, five of six (83%) known STL2 family members suffered RRD, only the STL2 son with bilateral OSC/SS remaining bilaterally attached. All five OSC/SS treated eyes (average 8.7 years post-prophylaxis) retained preoperative visual acuity of 20/20 to 20/ 30, with an average, asymptomatic reduction of meridional field in each eye to 50 degrees. In contrast, in the three eyes having suffered RRD prior to presentation, visual acuity ranged from 20/125 to 8/200 and average meridional field was 29 degrees. Conclusion: Encircling grid laser (OSC) modified in Stickler eyes to encompass the ora serrata and extend posteriorly to and between the vortex vein ampullae (OSC/SS) is a reasonable RRD prophylaxis option to offer STL1 and STL2 patients as an alternative to no treatment or less effective prophylaxis. Because of rarity and severity, the ultimate proof of safety and efficacy will likely come not from randomized trials, but from a nonrandomized, prospective, cohort comparison study of such individual efforts.

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Section: Introductionmentioning

confidence: 99%

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)

Morris¹,

Parma²,

Robin³

et al. 2021

OPTH

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“…If a patient was too young to perform an accurate slit-lamp examination, only those with a history of retinal detachment, or accompanying systemic features according to the criteria suggested by Snead et al [21], were enrolled in this study. Boysen et al have suggested that currently there is no general agreement on the diagnostic criteria for Stickler syndrome [7]. The two major diagnostic criteria were suggested before the era of active gene analysis due to the recent development of NGS technology, and do not include evaluation of the pathogenicity of gene variants according to the ACMG guidelines.…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by ophthalmic findings such as abnormal vitreous, myopia, and retinal detachment (RD) of variable degrees as well as skeletal, auditory, and orofacial abnormalities [4]. RD is a serious complication that can cause blindness in patients with Stickler syndrome, and is known to affect approximately 45-70% [5][6][7]. Moreover, Stickler syndrome is one of the major causes of primary RD in children [8].…”

Section: Introductionmentioning

confidence: 99%

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Choi

Woo

et al. 2021

Genes

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Stickler syndrome is an inherited connective tissue disorder of collagen. There are relatively few reports of East Asian patients, and no large-scale studies have been conducted in Korean patients yet. In this study, we retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene variants were identified, of which 12 were novel variants. A total of 30 people had variants in the COL2A1 gene and 7 had variants in the COL11A1 gene. Among the types of pathogenic variants, missense variants were found in 11, nonsense variants in 8, and splice site variants in 7. Splicing variants were frequently associated with retinal detachment (71%) followed by missense variants. This is the first large-scale study of Koreans with Stickler syndrome, which will expand the spectrum of genetic variations of Stickler syndrome.

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“…While prophylaxis of retinal detachment with laser or cryotherapy has been explored, there is controversy regarding the safety and effectiveness of this approach with no clear consensus. [5][6][7] The most standardized approach to prophylaxis was presented by the Cambridge group case-control study which demonstrated a significant reduction in unfavorable outcomes with a single row of cryotherapy prophylaxis at the ora serrata. 4 However, it is important to note that prophylaxis does not replace the need for regular periodic examination because, as our case demonstrates, asymptomatic GRT can still occur.…”

Section: Discussionmentioning

confidence: 99%

‘Failure’ of laser prophylaxis in an eye with stickler syndrome

Blair¹

2021

MOJCR

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Background: Stickler syndrome is one of the most common inherited connective tissue disorders and is an important cause of pediatric vision loss due to a high risk of retinal detachment in these patients. Methods: Case report. Case summary: This case reports describes the clinical course of a 10 year old boy with Sticklers Syndrome who underwent bilateral peripheral laser prophylaxis. During routine follow up, he was found to have an asymptomatic giant retinal tear (GRT) with limited sub-retinal fluid expansion due to prior prophylactic laser. He underwent surgery with vitrectomy and scleral buckle with vision remaining at 20/25 at 6 month follow up. Conclusion: Although the utility of laser prophylaxis in Stickler patients is debated, this case demonstrates that after laser prophylaxis, even if GRT develops, expansion can be limited. Laser prophylaxis along with frequent examinations, can prevent development of PVR and complex detachments and preserve macular function with excellent visual outcome.

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Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review

Cited by 21 publications

References 63 publications

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

‘Failure’ of laser prophylaxis in an eye with stickler syndrome

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