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Blindness

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

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  1. 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.

  2. Myopia

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

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

  5. 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

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

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

  8. Prevention of Retinal Detachment Laser Cryotherapy Scleral Buckle

  9. Retinal Detachment Giant Retinal Tear Vitrectomy Membranectomy Perfluorocarbon Liquid Silicone Oil Laser

  10. Cataract

  11. Cataract (wedge-shaped, cortical)CC

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