Yawkey Center for Outpatient Care, Suite 6C
Phone: 617-726-1561
Stickler syndrome, or hereditary arthroophthalmology, 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:
- Near sightedness
- 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.
Ruth Liberfarb, MD, made her first diagnosis of Stickler syndrome in 1976. Over the past thirty years, she has done clinical research on Stickler syndrome, publishing a number of journal articles highlighting the intra- and interfamilial 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.
Most recently, Dr. Liberfarb worked as a consultant medical geneticist of the NIH/NIA Stickler Syndrome Study, supported by Massachusetts General Hospital with funds from NIH and NIA. She followed over sixty affected families, published fifteen journal articles and co-authored chapters on the medical management of Stickler syndrome in two editions of the textbook Management of Genetic Syndromes. She has also talked at a number of annual meetings of the support group “Stickler Involved People” (SIP) and was on the advisory board for a twenty-nine-minute informational video Stickler Syndrome: Learning the Facts available at www.sticklersvideo.org for $20.00 plus shipping and handling from Canada. Dr. Liberfarb is on the advisory board for the national organization for rare disorders (NORD).
Dr. Liberfarb will coordinate multidisciplinary medical care for adults and children with Stickler syndrome and be available to evaluate patients for whom the diagnosis 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; to an audiologist for a hearing evaluation; to an orthodontist for a dental evaluation; to an orthopedist or rheumatologist for a musculoskeletal evaluation; to a physiatrist for pain management; to a physical therapist; and to a specialist in reproductive medicine and in vitro fertilization.
