Blindness Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Sticklersyndrome): a survey. Genet Med May-Jun;3(3):192-6.

Myopia

Diagnosis Autosomal Dominant 50% chance for each child of affected person Examination of relatives Genetic testing

Classic Stickler Diagnosis-Cardiff 1.Myopia < 6years 2.Retinal Detachment or paravascular lattice 3.Joint hypermobility or degeneration 4.Sensorineural hearing loss 5.Midline clefting Vitreous Anomoly

Diagnosis: 2 systems Ophthalmic Craniofacial Midface hypoplasia, depressed nasal bridge (in childhood), anteverted nares, bifid uvula, cleft hard palate, micrognathia, Pierre Robin sequence (micrognathia, cleft palate, glossoptosis) Audiologic Sensorineural or conductive hearing loss. Hypermobile middle ear systems, representing an additional diagnostic feature, have been reported in 46% of affectedindividuals in one cohort Joints Hypermobility, mild spondyloepiphyseal dysplasia, precocious osteoarthritis

Diagnosis: Non-classic requires different criteria Predominantly Ocular –COL2A1 Exon 2 and Arg453Ter Mutations Non-Ocular –COL11A2 –New Autosomal recessive form

Treatment Myopia ----> glasses Cataract ----> surgery Retinal Detachment ---> prevention, detection and repair Vitreous anomoly ---> observation Glaucoma ---> medications or surgery

Prevention of Retinal Detachment Laser Cryotherapy Scleral Buckle

Retinal Detachment Giant Retinal Tear –Vitrectomy –Membranectomy –Perfluorocarbon Liquid –Silicone Oil –Laser

Cataract

Cataract (wedge-shaped, cortical)CC