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Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Hugosson, Therése LU ; Friedman, James S; Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Swaroop, Anand and Andréasson, Sten LU (2010) In Archives of Ophthalmology 128(6). p.772-778
Abstract
OBJECTIVE: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene. METHODS: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic examination, including visual acuity, fundus inspection, Goldmann perimetry, full-field electroretinography (ERG), multifocal ERG, and optical coherence tomography. KLHL7 mutation was identified by sequence analysis. RESULTS: In most examined family members, the fundus showed minor abnormalities. Full-field ERG demonstrated reduced... (More)
OBJECTIVE: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene. METHODS: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic examination, including visual acuity, fundus inspection, Goldmann perimetry, full-field electroretinography (ERG), multifocal ERG, and optical coherence tomography. KLHL7 mutation was identified by sequence analysis. RESULTS: In most examined family members, the fundus showed minor abnormalities. Full-field ERG demonstrated reduced cone and rod function, but rod responses were preserved in some patients late in life. Follow-up (<or=17 years) demonstrated slowly progressive retinal degeneration. In an adolescent family member, cone and rod function was initially normal, but retinitis pigmentosa was confirmed by electrophysiology 17 years later. Optical coherence tomography and multifocal ERG demonstrated macular abnormalities of varying degree among family members. Genetic analysis revealed a heterozygous exon 6 change (c.458C>T) in 7 family members. CONCLUSIONS: Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. Clinical examination with long-term follow-up verified a phenotype with a varying degree of retinal photoreceptor dysfunction and, in some family members, with late onset and preserved rod function until late in life. Clinical Relevance Patients with minor retinal abnormalities and normal ERG findings early in life can harbor an autosomal dominant form of retinitis pigmentosa with a varying degree of visual impediment. Some patients with late onset may retain night vision for many years. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autoantigens: genetics, Retinitis Pigmentosa: genetics
in
Archives of Ophthalmology
volume
128
issue
6
pages
772 - 778
publisher
American Medical Association
external identifiers
  • wos:000278747900017
  • pmid:20547956
  • scopus:77953627257
ISSN
0003-9950
DOI
10.1001/archophthalmol.2010.98
language
English
LU publication?
yes
id
4d9a0b7c-b18f-4e17-9234-aeb002095bf3 (old id 1626074)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20547956?dopt=Abstract
date added to LUP
2010-07-05 20:17:41
date last changed
2018-05-29 09:58:29
@article{4d9a0b7c-b18f-4e17-9234-aeb002095bf3,
  abstract     = {OBJECTIVE: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene. METHODS: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic examination, including visual acuity, fundus inspection, Goldmann perimetry, full-field electroretinography (ERG), multifocal ERG, and optical coherence tomography. KLHL7 mutation was identified by sequence analysis. RESULTS: In most examined family members, the fundus showed minor abnormalities. Full-field ERG demonstrated reduced cone and rod function, but rod responses were preserved in some patients late in life. Follow-up (&lt;or=17 years) demonstrated slowly progressive retinal degeneration. In an adolescent family member, cone and rod function was initially normal, but retinitis pigmentosa was confirmed by electrophysiology 17 years later. Optical coherence tomography and multifocal ERG demonstrated macular abnormalities of varying degree among family members. Genetic analysis revealed a heterozygous exon 6 change (c.458C&gt;T) in 7 family members. CONCLUSIONS: Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. Clinical examination with long-term follow-up verified a phenotype with a varying degree of retinal photoreceptor dysfunction and, in some family members, with late onset and preserved rod function until late in life. Clinical Relevance Patients with minor retinal abnormalities and normal ERG findings early in life can harbor an autosomal dominant form of retinitis pigmentosa with a varying degree of visual impediment. Some patients with late onset may retain night vision for many years.},
  author       = {Hugosson, Therése and Friedman, James S and Ponjavic, Vesna and Abrahamson, Magnus and Swaroop, Anand and Andréasson, Sten},
  issn         = {0003-9950},
  keyword      = {Autoantigens: genetics,Retinitis Pigmentosa: genetics},
  language     = {eng},
  number       = {6},
  pages        = {772--778},
  publisher    = {American Medical Association},
  series       = {Archives of Ophthalmology},
  title        = {Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.},
  url          = {http://dx.doi.org/10.1001/archophthalmol.2010.98},
  volume       = {128},
  year         = {2010},
}