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Blindness. Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Sticklersyndrome): a survey. Genet Med. 2001 May-Jun;3(3):192-6. Myopia. Diagnosis. Autosomal Dominant 50% chance for each child of affected person Examination of relatives
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Blindness Stickler GB, Hughes W, Houchin P. Clinical features of hereditary progressive arthro-ophthalmopathy (Sticklersyndrome): a survey. Genet Med. 2001 May-Jun;3(3):192-6.
Diagnosis Autosomal Dominant 50% chance for each child of affected person Examination of relatives Genetic testing
Classic Stickler Diagnosis-Cardiff • Vitreous Anomoly Myopia < 6years Retinal Detachment or paravascular lattice Joint hypermobility or degeneration Sensorineural hearing loss Midline clefting
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