Stickler syndrome - lessons from a national cohort

Area of Science:

• Ophthalmology
• Genetics
• Rare Diseases

Background:

• Stickler syndrome is a spectrum of inherited vitreoretinopathies.
• It is a leading cause of retinal detachment in children and familial cases.
• A national specialist service was established in 2011 to manage affected patients.

Purpose of the Study:

• To review the outcomes of a decade of the Stickler Highly Specialised Service (HSS).
• To highlight the importance of accurate diagnosis and genetic analysis in Stickler syndrome.
• To emphasize the preventability of blindness in high-risk individuals.

Main Methods:

• Analysis of a national dataset of 1673 patients from 785 families assessed by the HSS.
• Utilisation of accurate phenotyping and molecular genetic analysis, including whole gene sequencing for deep intronic mutations.
• Review of ten selected case histories with key learning points.

Main Results:

• The HSS has assessed a significant number of patients over 10 years.
• Molecular genetic analysis identifies mutations in over 95% of cases, including complex mutations.
• The majority of cases presenting to ophthalmologists belong to three autosomal dominant subgroups with high retinal detachment risk, often overlooked in adults.

Conclusions:

• Accurate phenotyping and advanced genetic analysis are crucial for diagnosing Stickler syndrome.
• Early identification of high-risk individuals and prophylactic measures can prevent vision loss.
• The national service has demonstrated success in managing Stickler syndrome and preventing blindness.