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Letter to the Editor

Type I membranous anomaly in Stickler syndrome

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References

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  • Richards AJ, McNinch A, Martin H, et al. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Hum Mutat 2010;31:E1461–71.
  • Parma ES, Körkkö J, Hagler WS, et al. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol 2002;134:728–734.
  • Donoso LA, Edwards AO, Frost AT, et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stickler syndrome family. Am J Ophthalmol 2002;134:720–727.
  • Richards AJ, McNinch A, Whittaker J, et al. Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations. Eur J Hum Genet 2012;20:552–558.
  • Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. Ophthalmology 2014;121:1588–1597.

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