Speciality
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Ophthalmology


 

 





Congenital Anomalies

  

  • Maria M van Genderen, Kinds Geert F, Riemslag Frans CC, Hennekam Raoul CM. (Institute of Visually Handicapped “Bartimeus”, Zeist, Netherlands and Academic Medical Centre)


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



    Br J Ophthalmology 2000; 84:1177-1184.


       


    Twenty-four patients having Rubinstein-Taybi syndrome (RT) were selected for ophthalmological and electrophysiological examination.

       


    Most frequently reported eye anomalies in literature are lacrimal duct obstruction, corneal abnormalities, congenital glaucoma, congenital cataract and colobomata.

      


    In the above series, retinal abnormalities were found in 18 patients, where VEPs showed an abnormal waveform in 15 patients.
    Ergs were abnormal in 14 out of these 18 patients.

      


    The high frequency of retinal dysfunction has not been described earlier.

         

 



 

 

Speciality Spotlight

 

 

Congenital Anomalies
  

  • Maria M van Genderen, Kinds Geert F, Riemslag Frans CC, Hennekam Raoul CM. (Institute of Visually Handicapped “Bartimeus”, Zeist, Netherlands and Academic Medical Centre)
    Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.
    Br J Ophthalmology 2000; 84:1177-1184.
       
    Twenty-four patients having Rubinstein-Taybi syndrome (RT) were selected for ophthalmological and electrophysiological examination.
       
    Most frequently reported eye anomalies in literature are lacrimal duct obstruction, corneal abnormalities, congenital glaucoma, congenital cataract and colobomata.
      
    In the above series, retinal abnormalities were found in 18 patients, where VEPs showed an abnormal waveform in 15 patients. Ergs were abnormal in 14 out of these 18 patients.
      
    The high frequency of retinal dysfunction has not been described earlier.
         

 

 

By |2022-07-20T16:42:07+00:00July 20, 2022|Uncategorized|Comments Off on Congenital Anomalies

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