Electroretinograms of eyes with Stickler syndrome

Author:

Kondo HiroyukiORCID,Fujimoto Kazushi,Imagawa Mamika,Oku Kazuma,Matsushita Itsuka,Hayashi Takaaki,Nagata Tatsuo

Funder

Japan Society of Promotion Science

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Reference27 articles.

1. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward LE (1965) Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 40:433–455

2. Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (2000) Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet 67(5):1083–1094

3. Hagler WS, Crosswell HH Jr (1968) Radial perivascular chorioretinal degeneration and retinal detachment. Trans Am Acad Ophthalmol Otolaryngol 72(2):203–216

4. Parma ES, Korkko J, Hagler WS, Ala-Kokko L (2002) 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 134(5):728–734

5. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ (1991) Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 88(15):6624–6627

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