Stickler Syndrome
Stickler syndrome or arthro-ophthalmopathy is a hereditary disease that affects the collagen fibers. It has both ocular and systemic manifestations. This disease can be diagnosed during childhood. How it is inherited?Autosomal dominant.Where is the cause?Mutation in type II collagen gene which is called COL2A1. Mutation of this gene presents in about 75% of the patients. This gene presents in long arm of chromosome 12. Mutation in collagen type II causes abnormal vitreous body.This disease can also occur in mutation of other genes such as COL11A1 and COL11A2. What are ocular manifestations of Stickler Syndrome?1- Optically empty vitreous which can cause high myopia range from - 8 diaptor to -18 diaptor. Vitreous is made of collagen fibers.2- Pigmentary changes around the vessels which is called perivascular pigmentary changes. 3- Retinal holes and tears which can cause retinal detachment. 4- Presenile cataract which can occur in patients younger than 45 years old. It is cortical cataract. 5- Glaucoma, open angle glaucoma and normal tension glaucoma. What are the systemic manifestations?1- Arthritis and degenerative changes on joints especially weight bearing joints.2- Hyper flexibility of the joints. 3- Pierre Robin Sequence which can cause difficulties in breathing and feeding. 4- Submucosal cleft palate. 5- Small lower jaw which can cause dental problems and sometimes dental surgeries may be required. 6- Midfacial flattening which includes flattening of cheekbones and nose. 7- Recurrent ear Infections. 8- Deafness which can be progressive and affects most individual at middle age. 9- Mitral valve prolapsed. Ocular Treatment:There is no cure for this treatment. The main goal of ocular treatment is to:1- Prevent amblyopia. 2- Treat retinal detachment which can be difficult. 3- Treat glaucoma by anti glaucoma medications and surgeries. Support GroupsIn USA, www.sticklers.org/sip/In UK, www.stickler.org.uk/
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