Ocular Manifestations of the Rubinstein-Taybi Syndrome

Roy, Frederick

doi:10.1001/archopht.1968.03850040274008

Cited by 47 publications

(15 citation statements)

References 6 publications

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“…Strabismus, cataracts, glaucoma, coloboma, ptosis, and nasolacrimal duct obstruction have been previously reported in the RubinsteinTaybi syndrome [Roy et al, 1968;Bejar and Smith, 1969;Falbe-Hansen, 1969;Levy, 19761 and were seen in several of our patients. There seems to be significant Duane anomaly 1150 Ankyloblepharon filiforme adnatum 1150 enough eye pathology in this condition to recommend a routine ophthalmologic examination in all patients with the Rubinstein-Taybi syndrome.…”

Section: Medical Historysupporting

confidence: 77%

Rubinstein-Taybi syndrome: A natural history study

2005

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In order to examine several aspects related to the natural history of the Rubinstein-Taybi syndrome, we performed a questionnaire study of 50 patients who had been diagnosed with the condition. The cases were ascertained through a national parent support group and all of the individuals had been reared at home. The most frequent problems encountered were inadequate weight gain in infancy, eye problems, dental abnormalities, congenital heart defects, urinary tract problems, and severe constipation. These medical disorders and others resulted in approximately 10 times the average number of hospitalizations and surgeries as the general population of children.None of the 91 sibs of our study group were affected with the condition. Thirty-seven patients had undergone psychological testing with an average I& of 51 and a range of 30 to 79. Timing for the attainment of various developmental stages was also determined. Individuals with Rubinstein-Taybi syndrome were found to have particular difficulty with expressive speech skills. Indexes for maladaptive behavior were calculated showing that approximately 10% of patients had significant behavior problems.

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Section: Medical Historysupporting

confidence: 77%

Rubinstein-Taybi syndrome: A natural history study

2005

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“…For example, mutations within the human homolog of CBP are the underlying cause of Rubinstein-Taybi Syndrome, an affliction characterized by severe facial abnormalities, broad thumbs, broad big toes, mental retardation, and incorrect retinal development (Petrij et al 1995;Tanaka et al 1997;Oike et al 1999;Murata et al 2001;Coupry et al 2002;Kalkhoven et al 2003). Strabismus, juvenile glaucoma, cataracts, and coloboma of the eyelid, lens, and iris are among the eye defects associated with this syndrome (Roy et al 1968;Levy 1976;Ramakrishnan et al 1990;Silengo et al 1990;Guion-Almeida and Richieri-Costa 1992;van Genderen et al 2000). Similarly, reductions in CBP activity have pleiotropic effects within a wide range of Drosophila tissues.…”

mentioning

confidence: 99%

A Genetic Screen Identifies Putative Targets and Binding Partners of CREB-Binding Protein in the Developing Drosophila Eye

2005

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Drosophila CREB-binding protein (dCBP) is a very large multidomain protein, which belongs to the CBP/p300 family of proteins that were first identified by their ability to bind the CREB transcription factor and the adenoviral protein E1. Since then CBP has been shown to bind to .100 additional proteins and functions in a multitude of different developmental contexts. Among other activities, CBP is known to influence development by remodeling chromatin, by serving as a transcriptional coactivator, and by interacting with terminal members of several signaling transduction cascades. Reductions in CBP activity are the underlying cause of Rubinstein-Taybi syndrome, which is, in part, characterized by several eye defects, including strabismus, cataracts, juvenile glaucoma, and coloboma of the eyelid, iris, and lens. Development of the Drosophila melanogaster compound eye is also inhibited in flies that are mutant for CBP. However, the vast array of putative protein interactions and the wide-ranging roles played by CBP within a single tissue such as the retina can often complicate the analysis of CBP loss-of-function mutants. Through a series of genetic screens we have identified several genes that could either serve as downstream transcriptional targets or encode for potential CBP-binding partners and whose association with eye development has hitherto been unknown. The identification of these new components may provide new insight into the roles that CBP plays in retinal development. Of particular interest is the identification that the CREB transcription factor appears to function with CBP at multiple stages of retinal development.

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“…Ocular and adnexal abnormalities are quite common: antimongoloid slant of the palpebral fissures is seen in about 93% of such patients, epicanthal folds in about 54%, congenital obstruction of the lacrimal excretory system in about 19%, ptosis and strabismus, expecially exotropia in about 61%, and severe ametropia, expecially high grade myopia in about 76%. Macrocornea, microphthalmos, colobomas of the iris and of the optic nerve head, congenital cataract, and optic nerve atrophy have also been described, as has congenital glaucoma, although this is a rare complication (Brei et al 1995, Manzitti & Lanvin 1972, Roy et al 1968, Shibab 1984, Ziring et al 1974.…”

mentioning

confidence: 99%

Congenital glaucoma associated with Rubinstein‐Taybi syndrome

Quaranta¹,

Quaranta²

1998

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose/Methods: Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, marked growth retardation, microcrania, typical facies, higharched palate, and cryptorchidism in males. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, and severe ametropia. Macrocornea, microophthalmos, colobomas of the iris and of the optic nerve head, congenital cataract, and optic nerve atrophy have also been described. Congenital glaucoma is a rare complication. We examined a patient with Rubinstein-Taybi syndrome with bilateral congenital glaucoma. Results/Conclusions: Examination of this patient revealed bilateral antimongoloid slants of the palpebral fissures, and bilateral congenital glaucoma. Gonioscopic examination revealed the iris to be inserted flatly into the trabecular meshwork. This case emphasizes the importance of detailed, complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.

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Ocular Manifestations of the Rubinstein-Taybi Syndrome

Cited by 47 publications

References 6 publications

Rubinstein-Taybi syndrome: A natural history study

Rubinstein-Taybi syndrome: A natural history study

A Genetic Screen Identifies Putative Targets and Binding Partners of CREB-Binding Protein in the Developing Drosophila Eye

Congenital glaucoma associated with Rubinstein‐Taybi syndrome

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