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Br J Ophthalmol 84:364-371 doi:10.1136/bjo.84.4.364
  • Original Article
    • Clinical science

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

Table 4

Comparison of ophthalmic features in type 1 Stickler syndrome and Wagner syndrome

Stickler syndromes Wagner syndrome
Myopia Congenital, high degree Usually mild
Anterior chamber angle dysgenesis Occasional Unreported
Cataract Wedge-shaped, cortical Early onset, nuclear, progressive, “cataracta  complicata”
Frequently non-progressive
Type 1 vitreous anomaly Present Absent
Retinopathy Frequently normal Progressive pigmentory and punched out  chorioretinal atrophy
 scalloped paravascular pigmented lattice
Retinal detachment Common, frequently bilateral Uncommon
High risk of giant retinal tear
Dark adaptation Normal May be reduced

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