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Bothnia dystrophy, a clinical, genetical and electrophysiological study
Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Oftalmiatrik.
2003 (Engelska)Doktorsavhandling, sammanläggning (Övrigt vetenskapligt)
Abstract [en]

A high frequency of retinitis pigmentosa (RP) is found in Northern Sweden. In an inventory of autosomal recessive RP patients in Västerbotten County, a great number of cases with a unique phenotype was noticed, denoted Bothnia Dystrophy (BD). The aim of the study was to describe the phenotype, to determine the chromosomal location, and to identify the gene.

Patients typically show night blindness from early childhood. Symptoms of defect macular function with a decrease of visual acuity can appear in early adulthood. The retinal fundus shows irregular white spots in a central, and parafoveal pattern along the arcades. Centrally areolar maculopathy develops and round circular atrophies are observed in the periphery.

The disease was shown to be associated with a missense mutation in the RLBP1 gene resulting in an amino acid substitution (R234W) in the cellular retinaldehyde-binding protein (CRALBP). The R234W mutation was found in a homozygous state in 61 patients affected with BD. Ten patients were heterozygous for the R234W mutation, and presented a similar phenotype. No additional mutations in the coding sequence or exon-intron junctions were found. CRALBP is localised in retinal pigment epithelium (RPE), and Müller cells of the retina. In the RPE, CRALBP functions as a carrier protein for endogenous retinoids.

Dark adaptometry and electrophysiologic testing showed an initial loss of rod function followed by a progressive reduction of the cone responses in older ages. A compromised rod function, dysfunction of the Müller cells, and indications of a disturbed function of the inner retina were found. With prolonged dark adaptation, a gradual increase in retinal sensitivity to light and an improvement of the ERG components occurred. The findings indicate a prolonged synthesis of photopigments, retardation of the visual process in the retinal pigment epithelium and a loss of retinal cells probably starting at a relative early age in BD.

To evaluate the subjective visual function in BD patients, a battery of objective tests of visual function and composite score of the 25-item NEI-Visual Function Questionnaire (VFQ-25) were analyzed. We found that weighted distance logMAR visual acuity (WVA), had the strongest association with subjective visual function, and that there was a considerable loss of subjective and objective visual function with increasing age in BD patients. The prevalence of BD is as high as 1:3600 in Västerbotten County.

The possibility that recycling of retinoids localized in the RPE might be impaired in BD might give future therapeutic possibilities. Due to the large and clinically well-characterized set of patients with this disease, they constitute a suitable study group.

Ort, förlag, år, upplaga, sidor
Umeå: Umeå university , 2003. , s. 2
Serie
Umeå University medical dissertations, ISSN 0346-6612 ; 859
Nyckelord [en]
Ophtalmology, retinal pigment epithelium, retinitis pigmentosa, neural retina, electroretinogram, cellular retinaldehyde-binding protein, dark adaptometry, retinal degeneration
Nyckelord [sv]
Oftalmiatrik
Nationell ämneskategori
Oftalmologi
Forskningsämne
oftalmiatrik
Identifikatorer
URN: urn:nbn:se:umu:diva-179ISBN: 91-7305-533-6 (tryckt)OAI: oai:DiVA.org:umu-179DiVA, id: diva2:141986
Disputation
2003-11-21, Sal B, 9 tr, Tandläkarhögskolan, Norrlands Universitetssjukhus, Umeå, 10:00 (Engelska)
Opponent
Handledare
Tillgänglig från: 2004-01-09 Skapad: 2004-01-09 Senast uppdaterad: 2011-04-08Bibliografiskt granskad
Delarbeten
1. Bothnia Dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
Öppna denna publikation i ny flik eller fönster >>Bothnia Dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
1999 Ingår i: Invest Ophthalmol Vis Sci, Vol. 40, nr 5, s. 995-1000Artikel i tidskrift (Refereegranskat) Published
Identifikatorer
urn:nbn:se:umu:diva-3330 (URN)
Tillgänglig från: 2004-01-09 Skapad: 2004-01-09Bibliografiskt granskad
2. Ocular phenotype of Bothnia Dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Öppna denna publikation i ny flik eller fönster >>Ocular phenotype of Bothnia Dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Visa övriga...
2001 Ingår i: Arch Ophthalmol, Vol. 119, nr 2, s. 260-7Artikel i tidskrift (Refereegranskat) Published
Identifikatorer
urn:nbn:se:umu:diva-3331 (URN)
Tillgänglig från: 2004-01-09 Skapad: 2004-01-09Bibliografiskt granskad
3. Retinal function in Bothnia dystrophy. An electrophysiological study.
Öppna denna publikation i ny flik eller fönster >>Retinal function in Bothnia dystrophy. An electrophysiological study.
2003 (Engelska)Ingår i: Vision Research, ISSN 0042-6989, E-ISSN 1878-5646, Vol. 43, nr 24, s. 2559-2571Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Using prolonged dark adaptometry, standard dark adaptation (DA) and prolonged DA full-field electroretinograms (ERGs), we analysed the retinal function in patients with Bothnia dystrophy (BD), a variant of recessive retinitis punctata albescens (RPA). A compromised rod and cone function, a likely dysfunction of the Müller cells, and indications of disturbed neuronal function of the inner retina, were found. With prolonged DA, a gradual increase in retinal sensitivity to light and an improvement of the ERG components occurred. The findings indicate a prolonged synthesis of photopigments, retardation of the visual process in the retinal pigment epithelium (RPE), and a loss of retinal cells, probably starting at a relatively early age in BD.

Nyckelord
etinal pigment epithelium; Retinitis pigmentosa, Neural retina, Electroretinogram, Cellular retinyl aldehyde-binding protein (CRALBP)
Nationell ämneskategori
Oftalmologi
Forskningsämne
oftalmiatrik
Identifikatorer
urn:nbn:se:umu:diva-34334 (URN)10.1016/S0042-6989(03)00440-1 (DOI)13129542 (PubMedID)744 (Lokalt ID)744 (Arkivnummer)744 (OAI)
Tillgänglig från: 2010-05-26 Skapad: 2010-05-26 Senast uppdaterad: 2018-06-08Bibliografiskt granskad
4. Clinical and genetic studies on heterozygous individuals with Bothnia Dystrophy.
Öppna denna publikation i ny flik eller fönster >>Clinical and genetic studies on heterozygous individuals with Bothnia Dystrophy.
Visa övriga...
Manuskript (Övrigt vetenskapligt)
Identifikatorer
urn:nbn:se:umu:diva-3333 (URN)
Tillgänglig från: 2004-01-09 Skapad: 2004-01-09 Senast uppdaterad: 2010-01-13Bibliografiskt granskad
5. Association between specific measures of vision and Vision-Related Quality of life in patients with Bothnia Dystrophy, a defined type of retinitis pigmentosa.
Öppna denna publikation i ny flik eller fönster >>Association between specific measures of vision and Vision-Related Quality of life in patients with Bothnia Dystrophy, a defined type of retinitis pigmentosa.
(Engelska)Manuskript (Övrigt vetenskapligt)
Nationell ämneskategori
Medicin och hälsovetenskap
Identifikatorer
urn:nbn:se:umu:diva-3334 (URN)
Tillgänglig från: 2004-01-09 Skapad: 2004-01-09 Senast uppdaterad: 2018-06-09Bibliografiskt granskad

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