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Search: WFRF:(Andreasson Sten) > (2000-2004) > Full-field ERG in p...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003714naa a2200661 4500
001oai:gup.ub.gu.se/83161
003SwePub
008240528s2000 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/831612 URI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Eksandh, Louise4 aut
2451 0a Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.
264 1c 2000
520 a PURPOSE: To investigate, using full-field ERG, the retinal function in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN(3) gene. METHODS: Batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the Batten disease gene (CLN(3)). Visual acuity, fundus appearance, and full-field ERG were examined in all patients (age 4-19 years). The examination was repeated in one patient after 16 months. RESULTS: Three unrelated patients were homozygous for the most common mutation in CLN(3), the 1.02 kb deletion; two patients (sisters) were heterozygous for the 1.02 kb deletion and an as yet unidentified mutation in the CLN(3) gene. Full-field ERG recordings in all five patients demonstrated no rod responses and only small remaining cone responses, which could be detected with 30 Hz-flicker stimulation. Re-examination of a six-year-old girl after 16 months revealed a fast progression of the retinal degeneration. CONCLUSION: Full-field ERG recordings in Batten disease patients, both homozygous and heterozygous for the 1.02 kb deletion in the CLN( 3) gene, confirm retinal degeneration to be severe, widespread, and with a rapid progression early in the disease course. The onset of visual failure may be delayed when compared to the classic disease course, particularly in patients who are not homozygous for the most common CLN(3) mutation, a 1.02 kb deletion. In that case, the disease progression in terms of other symptoms may also be further delayed.
653 a Adolescent
653 a Adult
653 a Child
653 a Child
653 a Preschool
653 a DNA
653 a analysis
653 a blood
653 a DNA Mutational Analysis
653 a Disease Progression
653 a Electroretinography
653 a Female
653 a Fluorescein Angiography
653 a Humans
653 a Male
653 a Membrane Glycoproteins
653 a Molecular Chaperones
653 a Mutation
653 a Neuronal Ceroid-Lipofuscinoses
653 a genetics
653 a physiopathology
653 a Polymerase Chain Reaction
653 a Proteins
653 a genetics
653 a Retina
653 a physiopathology
653 a Retinal Degeneration
653 a genetics
653 a physiopathology
653 a Visual Acuity
7001 a Ponjavic, Vesna4 aut
7001 a Munroe, Patricia B4 aut
7001 a Eiberg, Hans4 aut
7001 a Uvebrant, Paul,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics4 aut0 (Swepub:gu)xuvepa
7001 a Ehinger, Berndt4 aut
7001 a Mole, Sara4 aut
7001 a Andréasson, Sten4 aut
7102 a Göteborgs universitetb Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik4 org
7730 t Ophthalmic geneticsg 21:2, s. 69-77q 21:2<69-77x 1381-6810
8564 8u https://gup.ub.gu.se/publication/83161

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