Abstract
Purpose
Long-term follow-up of patients with Rubinstein–Taybi-associated infantile glaucoma.
Methods
Case series.
Results
Three cases of infantile glaucoma in association with Rubinstein–Taybi syndrome are presented.
Discussion
This report highlights the importance of measuring intraocular pressure in this condition, as glaucoma is one of the major preventable causes of blindness in childhood.
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References
Rubinstein JH, Taybi H . Broad thumbs and toes and facial abnormalities. Am J Disease Child 1963; 105: 588–608.
Petriji F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348–351.
Roelfsema JH, White SF, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005; 76: 572–580.
Bartholdhi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet 2007; 44: 327–333.
Hennekam RCM . Rubinstein Taybi syndrome. Eur J Hum Genet 2006; 14: 981–985.
Shaffer RN, Weiss DT . Congenital and Paediatric Glaucomas. The CV Mosby Co: Saint Louis, 1970 pp 57–58.
Weiss DI . Glaucoma and systemic disease. In: Duane T (ed.). Clinical Ophthalmology Vol 5, Chap 4. Harper and Row Publishers: Hagerstown, 1978 pp 3–4.
Bardelli AM, Lasorella G, Barberi L, Vanni M . Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-Francois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. Ophthal Paediatr Genetics 1985; 6: 103–107.
Brei TJ, Burke MJ, Rubinstein JH . Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. J Paediatr Ophthalmol Strabismus 1995; 32: 248–252.
Quaranta L, Quaranta CA . Congenital glaucoma associated with Rubinstein Taybi syndrome. Acta Ophthalmologica Scandinavica 1998; 76: 112–113.
Van Genderen MM, Kinds GF, Riemslag FCC, Hennekam RCM . Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol 2000; 84: 1177–1184.
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DaCosta, J., Brookes, J. Infantile glaucoma in Rubinstein–Taybi syndrome. Eye 26, 1270–1271 (2012). https://doi.org/10.1038/eye.2012.123
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DOI: https://doi.org/10.1038/eye.2012.123
