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Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene

Abdelkader, Ehab ; Enani, Lama ; Schatz, Patrik LU orcid and Safieh, Leen (2018) In Saudi Journal of Ophthalmology 32(2). p.119-125
Abstract

Purpose: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. Methods: Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging with colour fundus photography, fundus autofluorescence (AF), and optical coherence tomography (OCT) scans was performed. Full field electroretinogram (ffERG) was recorded. Molecular genetic testing was done using next-generation sequencing. Results: Visual acuity was more reduced (range 20/300–20/40) in older siblings (age>30 years), than... (More)

Purpose: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. Methods: Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging with colour fundus photography, fundus autofluorescence (AF), and optical coherence tomography (OCT) scans was performed. Full field electroretinogram (ffERG) was recorded. Molecular genetic testing was done using next-generation sequencing. Results: Visual acuity was more reduced (range 20/300–20/40) in older siblings (age>30 years), than in younger (age <30 years) siblings (range 20/70–20/25). OCT scans showed macular atrophy in all but one case that has cystoid macular edema (CME). AF demonstrated atrophy outside a small foveal area showing high signal. FfERG was flat in all cases. The homozygous splice site mutation c.470+1G>A in intron 5 of the MYO7A gene was detected in all affected siblings. Conclusions: This mutation manifested with advanced retinal degeneration at a young age. This may have implications regarding future gene therapy in Usher syndrome cases with this genotype.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Electroretinogram, Fundus autofluorescence, MYO7A mutation, Retinitis pigmentosa, Usher syndrome
in
Saudi Journal of Ophthalmology
volume
32
issue
2
pages
7 pages
publisher
King Saud University
external identifiers
  • scopus:85032903564
ISSN
1319-4534
DOI
10.1016/j.sjopt.2017.10.004
language
English
LU publication?
yes
id
dc3e87b9-a8b7-45b8-9bfe-af7d76a616f6
date added to LUP
2020-04-23 09:51:40
date last changed
2022-04-03 02:03:43
@article{dc3e87b9-a8b7-45b8-9bfe-af7d76a616f6,
  abstract     = {{<p>Purpose: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. Methods: Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging with colour fundus photography, fundus autofluorescence (AF), and optical coherence tomography (OCT) scans was performed. Full field electroretinogram (ffERG) was recorded. Molecular genetic testing was done using next-generation sequencing. Results: Visual acuity was more reduced (range 20/300–20/40) in older siblings (age&gt;30 years), than in younger (age &lt;30 years) siblings (range 20/70–20/25). OCT scans showed macular atrophy in all but one case that has cystoid macular edema (CME). AF demonstrated atrophy outside a small foveal area showing high signal. FfERG was flat in all cases. The homozygous splice site mutation c.470+1G&gt;A in intron 5 of the MYO7A gene was detected in all affected siblings. Conclusions: This mutation manifested with advanced retinal degeneration at a young age. This may have implications regarding future gene therapy in Usher syndrome cases with this genotype.</p>}},
  author       = {{Abdelkader, Ehab and Enani, Lama and Schatz, Patrik and Safieh, Leen}},
  issn         = {{1319-4534}},
  keywords     = {{Electroretinogram; Fundus autofluorescence; MYO7A mutation; Retinitis pigmentosa; Usher syndrome}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{119--125}},
  publisher    = {{King Saud University}},
  series       = {{Saudi Journal of Ophthalmology}},
  title        = {{Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene}},
  url          = {{http://dx.doi.org/10.1016/j.sjopt.2017.10.004}},
  doi          = {{10.1016/j.sjopt.2017.10.004}},
  volume       = {{32}},
  year         = {{2018}},
}