Stickler and Marshall Syndromes Program

About the program

Stickler syndrome, or hereditary arthro-ophthalmology, is a genetic disorder first described by Gunnar Stickler in 1965 and 1967. The pattern of inheritance is most commonly autosomal dominant, although a family showing autosomal recessive inheritance has been reported.

Stickler syndrome can be associated with eye problems such as:

• Nearsightedness
• Astigmatism
• Lazy eye
• Vitreoretinal degeneration
• Retinal holes and detachment
• Cataract
• Glaucoma

There is also a characteristic facial appearance with mid-facial flattening, small chin, palate abnormalities and malocclusion. There can also be sensorineural hearing loss, joint and spine abnormalities, early onset degenerative arthritis and mitral valve prolapse. An affected person does not need to have all of these features to be diagnosed. Stickler syndrome has a prevalence of one in ten thousand in the Caucasian population in the United States and may be the most common inherited cause of retinal detachment and blindness.

The Mass General Brigham Stickler and Marshall Syndromes Program has a unique and groundbreaking history in the care of patients with these related conditions. Our Emeritus Director, Ruth Liberfarb, MD, made her first diagnosis of Stickler syndrome in 1976. Over the next 30 years, she did clinical research on Stickler syndrome, publishing a number of journal articles highlighting the intra- and inter-familial variability, expanding the details of the clinical features and demonstrating that a mutation in the type II collagen gene locus col2A1 is a causative of Stickler syndrome in some families. It is now known that Stickler syndrome is caused by mutations in four gene loci (col2A1, col11A, col11A2 and col9A1) and linkage studies show that there is at least one other yet unidentified locus.

Dr. Paula Goldenberg, the current director of the program, coordinates multidisciplinary medical care for adults and children with Stickler and Marshall syndromes and is available to evaluate patients for whom diagnoses has been raised. Her evaluation will include: a comprehensive family and medical history, a physical examination, clinical tests (including x-rays and DNA analysis), and referrals as needed to: an ophthalmologist or retina specialist; an audiologist for a hearing evaluation; an orthodontist for a dental evaluation; an orthopedist or rheumatologist for a musculoskeletal evaluation; a physiatrist for pain management; a physical therapist; and a specialist in reproductive medicine and in-vitro fertilization.

Part of Mass General Brigham for Children