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Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa

Abdulridha-Aboud, Wissam LU ; Kjellström, Ulrika LU ; Andréasson, Sten LU and Ponjavic, Vesna LU (2016) In Molecular Vision 22. p.362-373
Abstract

Purpose: To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods: Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results: The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features... (More)

Purpose: To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods: Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results: The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions: These two families demonstrate the extreme inter-and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype.

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author
organization
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type
Contribution to journal
publication status
published
subject
keywords
retinitis pigmentosa, swedish families, macular structure, autosomal dominant
in
Molecular Vision
volume
22
pages
12 pages
publisher
Molecular Vision
external identifiers
  • Scopus:84964469514
ISSN
1090-0535
language
English
LU publication?
yes
id
dc75bdb4-3cd6-4674-a45a-92032edbe1b3
date added to LUP
2016-05-19 14:54:56
date last changed
2016-05-31 14:44:11
@misc{dc75bdb4-3cd6-4674-a45a-92032edbe1b3,
  abstract     = {<p>Purpose: To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods: Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results: The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G&gt;T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions: These two families demonstrate the extreme inter-and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G&gt;T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype.</p>},
  author       = {Abdulridha-Aboud, Wissam and Kjellström, Ulrika and Andréasson, Sten and Ponjavic, Vesna},
  issn         = {1090-0535},
  keyword      = {retinitis pigmentosa,swedish families,macular structure,autosomal dominant},
  language     = {eng},
  month        = {05},
  pages        = {362--373},
  publisher    = {ARRAY(0x542f298)},
  series       = {Molecular Vision},
  title        = {Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa},
  volume       = {22},
  year         = {2016},
}