Stickler syndrome – lessons from a national cohort

In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed 1673 patients from 785 families. Using a combination of accurate phenotyping and molecular genetic analysis it is possible to identify the underlying genetic mutation in over 95% of cases including those with deep intronic mutations likely to be missed by conventional exome panel analysis and which require whole gene sequencing and supplementary functional analysis to confirm pathogenicity. The vast majority that presents to ophthalmologists will be from one of three autosomal dominant sub-groups with a high associated risk of retinal detachment but the diagnosis is often overlooked, especially in adults. In contrast to many other blinding retinal conditions, blindness through giant retinal tear detachment particularly in children is largely preventable provided these high-risk groups are identified and appropriate evidence-based prophylaxis offered. This article summarises ten selected briefcase histories from the national dataset with key learning points from each.

Rhegmatogenous retinal detachment with giant retinal tear in a child with Marfan’s syndrome: a rare ocular emergency

A 7-year-old boy with Marfanoid habitus presented with sudden and painless decrease in the vision of the right eye. Ocular examination revealed rhegmatogenous retinal detachment with 360° giant retinal tear in the right eye and small peripheral retinal breaks with lattice degeneration in the left eye. The patient underwent a 23-gauge pars plana vitrectomy with scleral buckling in the right eye and laser around the breaks in the left eye. At 1-week follow-up visit, the child presented with similar complaints in the left eye as were seen in the right eye. This was later managed effectively with 23-gauge pars plana vitrectomy only. So, with our case report, we would like to highlight the need for aggressive screening in children who are diagnosed with Marfan’s syndrome and the need for prophylactic treatment in the unaffected eye.

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

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.