PURPOSE: To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome. METHODS: Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field electroretinography (ERG) during general anesthesia, ophthalmologic examination, and genetic analysis. Five children were repeatedly examined (follow-up 5-10 years) with full-field ERG under local anesthesia and in 2 children multifocal ERG and optical coherence tomography (OCT) were performed. These results were compared to full-field ERG data from 58 children without retinal eye disorder. RESULTS: Six children were genotyped as Usher 1B, 2A, and 3A. Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children. A remaining rod function could be verified in the majority of the children up to 4 years of age. After 4 years of age, there was a further deterioration of the rod function; the progress was severe in Usher types 1 and 2 and moderate in Usher type 3. In all children, the cone function was moderately reduced, in a few cases almost normal. The results from the 58 children without retinal disorder confirm that full-field ERG during general anesthesia is reliable. Multifocal ERG confirmed a preserved central cone function and in OCT there were discrete structural alterations. CONCLUSIONS: Full-field ERG during general anesthesia in children with Usher syndrome demonstrates variable phenotypes and different degrees in rate of progression during childhood.
PURPOSE: To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome. METHODS: Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field electroretinography (ERG) during general anesthesia, ophthalmologic examination, and genetic analysis. Five children were repeatedly examined (follow-up 5-10 years) with full-field ERG under local anesthesia and in 2 children multifocal ERG and optical coherence tomography (OCT) were performed. These results were compared to full-field ERG data from 58 children without retinal eye disorder. RESULTS: Six children were genotyped as Usher 1B, 2A, and 3A. Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children. A remaining rod function could be verified in the majority of the children up to 4 years of age. After 4 years of age, there was a further deterioration of the rod function; the progress was severe in Usher types 1 and 2 and moderate in Usher type 3. In all children, the cone function was moderately reduced, in a few cases almost normal. The results from the 58 children without retinal disorder confirm that full-field ERG during general anesthesia is reliable. Multifocal ERG confirmed a preserved central cone function and in OCT there were discrete structural alterations. CONCLUSIONS: Full-field ERG during general anesthesia in children with Usher syndrome demonstrates variable phenotypes and different degrees in rate of progression during childhood.
Authors: Robert F Cooper; Adam M Dubis; Ashavini Pavaskar; Jungtae Rha; Alfredo Dubra; Joseph Carroll Journal: Biomed Opt Express Date: 2011-08-11 Impact factor: 3.732
Authors: Ana Fakin; Maja Šuštar; Jelka Brecelj; Crystel Bonnet; Christine Petit; Andrej Zupan; Damjan Glavač; Martina Jarc-Vidmar; Saba Battelino; Marko Hawlina Journal: Genes (Basel) Date: 2019-11-21 Impact factor: 4.096
Authors: Astra Dinculescu; Rachel M Stupay; Wen-Tao Deng; Frank M Dyka; Seok-Hong Min; Sanford L Boye; Vince A Chiodo; Carolina E Abrahan; Ping Zhu; Qiuhong Li; Enrica Strettoi; Elena Novelli; Kerstin Nagel-Wolfrum; Uwe Wolfrum; W Clay Smith; William W Hauswirth Journal: PLoS One Date: 2016-02-16 Impact factor: 3.240