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Clinical features of achromatopsia in Swedish patients with defined genotypes.

Eksandh, Louise LU ; Kohl, Susanne and Wissinger, Bernd (2002) In Ophthalmic Genetics1994-01-01+01:00 23(2). p.20-109
Abstract
Purpose: To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes. Methods: RM patients from eight different families were included in the study. Their genotypes were determined by DNA sequencing and/or RFLP analysis of PCR-amplified genomic segments of the CNGA3 and CNGB3 genes. For comparison, we investigated one patient with blue-cone monochromacy (BCM). The clinical examination included best-corrected visual acuity, fundus examination, and full-field ERG. In six patients, the examination was complemented by multifocal ERG (MERG). Results: Three patients had three different CNG3A genotypes. Five... (More)
Purpose: To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes. Methods: RM patients from eight different families were included in the study. Their genotypes were determined by DNA sequencing and/or RFLP analysis of PCR-amplified genomic segments of the CNGA3 and CNGB3 genes. For comparison, we investigated one patient with blue-cone monochromacy (BCM). The clinical examination included best-corrected visual acuity, fundus examination, and full-field ERG. In six patients, the examination was complemented by multifocal ERG (MERG). Results: Three patients had three different CNG3A genotypes. Five patients were homozygous and one patient compound heterozygous for a 1-bp deletion (1148delC) in the CNGB3 gene. All patients examined presented with a visual acuity of 0.1-0.15. Small residual cone responses were noted in four young RM patients. The oldest patient examined (age 47 years) presented with pigmentary changes in the mid-peripheral retina and concentric constrictions of the visual fields. Conclusions: Patients with RM and mutations in the CNGA3/CNGB3 genes presented a similar clinical phenotype, confirming the essential function of both the alpha- and beta-subunits of the cGMP-gated cation channel in cone photoreceptor function. Small remaining cone responses in a few of the younger patients and mid-peripheral pigmentary degenerations in the oldest patient examined indicate that there could be some degree of progression in retinal dysfunction in at least some patients with RM. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Ophthalmic Genetics1994-01-01+01:00
volume
23
issue
2
pages
20 - 109
publisher
Taylor & Francis
external identifiers
  • scopus:0036068733
ISSN
1744-5094
DOI
10.1076/opge.23.2.109.2210
language
English
LU publication?
yes
id
3af7b194-45fc-4669-b5d8-2a5608cf0eed (old id 110000)
alternative location
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=12187429&ordinalpos=16&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
date added to LUP
2007-07-09 08:51:27
date last changed
2017-09-10 04:26:31
@article{3af7b194-45fc-4669-b5d8-2a5608cf0eed,
  abstract     = {Purpose: To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes. Methods: RM patients from eight different families were included in the study. Their genotypes were determined by DNA sequencing and/or RFLP analysis of PCR-amplified genomic segments of the CNGA3 and CNGB3 genes. For comparison, we investigated one patient with blue-cone monochromacy (BCM). The clinical examination included best-corrected visual acuity, fundus examination, and full-field ERG. In six patients, the examination was complemented by multifocal ERG (MERG). Results: Three patients had three different CNG3A genotypes. Five patients were homozygous and one patient compound heterozygous for a 1-bp deletion (1148delC) in the CNGB3 gene. All patients examined presented with a visual acuity of 0.1-0.15. Small residual cone responses were noted in four young RM patients. The oldest patient examined (age 47 years) presented with pigmentary changes in the mid-peripheral retina and concentric constrictions of the visual fields. Conclusions: Patients with RM and mutations in the CNGA3/CNGB3 genes presented a similar clinical phenotype, confirming the essential function of both the alpha- and beta-subunits of the cGMP-gated cation channel in cone photoreceptor function. Small remaining cone responses in a few of the younger patients and mid-peripheral pigmentary degenerations in the oldest patient examined indicate that there could be some degree of progression in retinal dysfunction in at least some patients with RM.},
  author       = {Eksandh, Louise and Kohl, Susanne and Wissinger, Bernd},
  issn         = {1744-5094},
  language     = {eng},
  number       = {2},
  pages        = {20--109},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics1994-01-01+01:00},
  title        = {Clinical features of achromatopsia in Swedish patients with defined genotypes.},
  url          = {http://dx.doi.org/10.1076/opge.23.2.109.2210},
  volume       = {23},
  year         = {2002},
}