X-linked juvenile retinoschisis: phenotypic and genetic characterization
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Rasa Strupait?. Center of Eye Diseases, Clinic of Ear, Nose, Throat, and Eye Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Santari?ki? str. 2, Vilnius LT-08662, Lithuania. rasa.strupaite@santa.lt

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    Abstract:

    Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschisis and typical cyst-like cavities on spectral-domain optical coherence tomography (SD-OCT) images. The mean central foveal thickness was 569.7 μm. Two patients presented with peripheral retinoschisis. Flash electroretinogram demonstrated a reduced b/a ratio (<1.0) in all patients. RS1 (NM_000330.3) gene coding exons Sanger sequencing was performed. RS1 c.599G>T (p.R200L) mutation was detected in one case, showing to be pathogenic in silico analysis. c. (92_97) insC (p.W33fs) mutation was identified for another patient, indicating the variant is possibly damaging in silico analysis. The third case was identified with a pathogenic mutation c.422C>G (p.R141H), HGMD CM981753. These are the first cases of XLRS in the Lithuanian population confirmed by molecular genotyping. Presented patients had a different genotype but similar phenotypic traits.

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Rasa Strupait&#;, Laima Ambrozaityt&#;, Loreta Cimbalistien&#;,et al. X-linked juvenile retinoschisis: phenotypic and genetic characterization. Int J Ophthalmol, 2018,11(11):1875-1878

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Publication History
  • Received:February 05,2018
  • Revised:March 28,2018
  • Adopted:
  • Online: November 07,2018
  • Published: