Literature DB >> 7124876

Autosomal dominant inheritance of retinoschisis.

Y Yassur, I Nissenkorn, I Ben-Sira, S Kaffe, R M Goodman.   

Abstract

Hereditary retinoschisis affected eight members of three generations of a family. The mode of transmission and the clinical features were not compatible with findings noted in either X-chromosome-linked or autosomal recessive forms of retinoschisis. The genetic and clinical features in this family strongly supported autosomal dominant inheritance, adding to the known genetic heterogeneity for the hereditary forms of retinoschisis. The expression of the condition varied in severity, but all affected members of the family had peripheral retinoschisis and peripheral retinal degeneration. Three had maculoschisis and five had macular pigmentary changes. Electroretinographic findings were normal in six of the eight.

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Year:  1982        PMID: 7124876     DOI: 10.1016/0002-9394(82)90359-2

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  5 in total

Review 1.  X linked retinoschisis.

Authors:  N D George; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

2.  Familial retinoschisis in female patients.

Authors:  J Shimazaki; M Matsuhashi
Journal:  Doc Ophthalmol       Date:  1987-03       Impact factor: 2.379

3.  Autosomal juvenile retinoschisis without foveal retinoschisis.

Authors:  K Yamaguchi; S Hara
Journal:  Br J Ophthalmol       Date:  1989-06       Impact factor: 4.638

Review 4.  X-linked retinoschisis: an update.

Authors:  Stephen K Sikkink; Susmito Biswas; Neil R A Parry; Paulo E Stanga; Dorothy Trump
Journal:  J Med Genet       Date:  2006-12-15       Impact factor: 6.318

5.  AN ASSOCIATION BETWEEN STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS, PERIPHERAL RETINOSCHISIS, AND POSTERIOR HYALOID ATTACHMENT.

Authors:  Edward Bloch; Blanca Flores-Sánchez; Odysseas Georgiadis; Venki Sundaram; Zubin Saihan; Omar A Mahroo; Andrew R Webster; Lyndon da Cruz
Journal:  Retina       Date:  2021-11-01       Impact factor: 4.256

  5 in total

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