Literature DB >> 30578483

X-linked Juvenile Retinoschisis.

Stephen H Tsang1,2, Tarun Sharma3.   

Abstract

X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated to be 1 in 5000-25,000 men, worldwide. XLRS has complete penetrance but variable expressivity. Carrier females generally remain asymptomatic.

Entities:  

Keywords:  Juvenile; Retinoschisis; X-linked

Mesh：

Year:  2018        PMID： 30578483     DOI： 10.1007/978-3-319-95046-4_10

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


  3 in total

1.  Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Authors:  Chelsea Bender; Elizabeth Geena Woo; Bin Guan; Ehsan Ullah; Eric Feng; Amy Turriff; Santa J Tumminia; Paul A Sieving; Catherine A Cukras; Robert B Hufnagel
Journal:  Genes (Basel)       Date:  2022-04-12       Impact factor: 4.141

2.  Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients.

Authors:  Qingge Guo; Ya Li; Jiarui Li; Ya You; Changgeng Liu; Kang Chen; Shuyin Li; Bo Lei
Journal:  Front Genet       Date:  2022-03-04       Impact factor: 4.599

3.  Retinoschisis associated with Kearns-Sayre syndrome.

Authors:  Julia Chertkof; Robert B Hufnagel; Delphine Blain; Andrea L Gropman; Brian P Brooks
Journal:  Ophthalmic Genet       Date:  2020-08-13       Impact factor: 1.803
  3 in total

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