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Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity
Joint Authors
Lorenz, Birgit
Preising, M. N.
Friedburg, C.
Bowl, W.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-23
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete optical correction.
While the genetic cause of high myopia itself is not well understood, a significant number of cases are secondary to hereditary malfunctions or degenerations of the retina.
The mechanism by which this occurs remains yet unclear.
Two female siblings, 4 y and 2 y, respectively, from a consanguineous Pakistani family were referred to our department for reduced VA and strabismus.
Both girls were highly myopic and hence were further examined using standard clinical tests and electroretinography (ERG).
The latter confirmed confounded electrical coupling of photoreceptors and bipolar cells.
Further inquiry and testing confirmed a similar condition for the father including impaired night vision, reduced VA, photophobia, and an equally characteristic ERG.
Findings in the mother were unremarkable.
Subsequent genetic analysis of autosomal recessive and X-linked genes for congenital stationary night blindness (CSNB) revealed a novel homozygous splice site mutation in CACNA1F in the two girls transmitted from both the father and the mother.
While in males the above clinical constellation is a frequent finding, this report, to the authors’ knowledge, is the first demonstrating biallelic mutations at the CACNA1F locus in females.
American Psychological Association (APA)
Preising, M. N.& Friedburg, C.& Bowl, W.& Lorenz, Birgit. 2018. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. BioMed Research International،Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1124123
Modern Language Association (MLA)
Preising, M. N.…[et al.]. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. BioMed Research International No. 2018 (2018), pp.1-11.
https://search.emarefa.net/detail/BIM-1124123
American Medical Association (AMA)
Preising, M. N.& Friedburg, C.& Bowl, W.& Lorenz, Birgit. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1124123
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1124123