Gliem, Martin and Holz, Frank G. and Stoehr, Heidi and Weber, Bernhard H. F. and Issa, Peter Charbel (2014) X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY Phenotypic Variability and Report of a Homozygous Female Patient. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 34 (12). pp. 2472-2478. ISSN 0275-004X, 1539-2864
Full text not available from this repository. (Request a copy)Abstract
Purpose: To describe the phenotypic variability in a consanguineous family with genetically confirmed X-linked retinoschisis. Methods: Five patients, including one homozygous female, were characterized by clinical examination, optical coherence tomography, fundus autofluorescence, mapping of macular pigment optical density, electroretinography, and DNA testing. Results: The 36-year-old male index patient showed a ring of enhanced autofluorescence and outer retinal atrophy on optical coherence tomography. Electroretinography testing revealed a reduced a/b ratio. His mother presented with a central atrophic retina with markedly reduced autofluorescence signal and a surrounding ring of enhanced autofluorescence. The 40-year-old brother of the index patient and his 2 sons showed characteristic signs for X-linked retinoschisis, including retinal schisis and a reduced a/b ratio. Genetic testing revealed a c.293C>A mutation in the RS1 gene in all affected family members while the mother of the index patient was homozygous for this mutation. Conclusion: X-linked retinoschisis can present with a wide phenotypic variability. Here, detailed family history and genetic testing established the diagnosis of X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | OPTICAL COHERENCE TOMOGRAPHY; MACULAR TELANGIECTASIA TYPE-2; FUNDUS AUTOFLUORESCENCE; CONGENITAL RETINOSCHISIS; GENOTYPE CORRELATION; GENE; DENSITY; RS1; ELECTRORETINOGRAM; DYSTROPHY; X-linked retinoschisis; fundus autofluorescence; optical coherence tomography; macular pigment; consanguinity; homozygosity |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 07 Aug 2019 09:11 |
| Last Modified: | 07 Aug 2019 09:11 |
| URI: | https://pred.uni-regensburg.de/id/eprint/9141 |
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