Literature DB >> 22722488

Infantile glaucoma in Rubinstein-Taybi syndrome.

J DaCosta1, J Brookes.   

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.

Entities:  

Mesh:

Year:  2012        PMID: 22722488      PMCID: PMC3443829          DOI: 10.1038/eye.2012.123

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN: 0950-222X            Impact factor:   3.775


  9 in total

1.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

Authors:  J H RUBINSTEIN; H TAYBI
Journal:  Am J Dis Child       Date:  1963-06

Review 2.  Rubinstein-Taybi syndrome.

Authors:  Raoul C M Hennekam
Journal:  Eur J Hum Genet       Date:  2006-07-26       Impact factor: 4.246

3.  Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Authors:  Deborah Bartholdi; Jeroen H Roelfsema; Francesco Papadia; Martijn H Breuning; Dunja Niedrist; Raoul C Hennekam; Albert Schinzel; Dorien J M Peters
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

4.  Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome.

Authors:  A M Bardelli; G Lasorella; L Barberi; M Vanni
Journal:  Ophthalmic Paediatr Genet       Date:  1985-08

5.  Congenital glaucoma associated with Rubinstein-Taybi syndrome.

Authors:  L Quaranta; C A Quaranta
Journal:  Acta Ophthalmol Scand       Date:  1998-02

Review 6.  Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.

Authors:  M M van Genderen; G F Kinds; F C Riemslag; R C Hennekam
Journal:  Br J Ophthalmol       Date:  2000-10       Impact factor: 4.638

7.  Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Authors:  Jeroen H Roelfsema; Stefan J White; Yavuz Ariyürek; Deborah Bartholdi; Dunja Niedrist; Francesco Papadia; Carlos A Bacino; Johan T den Dunnen; Gert-Jan B van Ommen; Martijn H Breuning; Raoul C Hennekam; Dorien J M Peters
Journal:  Am J Hum Genet       Date:  2005-02-10       Impact factor: 11.025

8.  Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Authors:  F Petrij; R H Giles; H G Dauwerse; J J Saris; R C Hennekam; M Masuno; N Tommerup; G J van Ommen; R H Goodman; D J Peters
Journal:  Nature       Date:  1995-07-27       Impact factor: 49.962

Review 9.  Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome.

Authors:  T J Brei; M J Burke; J H Rubinstein
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1995 Jul-Aug       Impact factor: 1.402

  9 in total
  1 in total

1.  Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Authors:  Naye Choi; Hwa Young Kim; Byung Chan Lim; Jong-Hee Chae; Soo Yeon Kim; Jung Min Ko
Journal:  Mol Genet Genomic Med       Date:  2021-08-24       Impact factor: 2.183

  1 in total

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