Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA.

G in mitochondrial DNA. -->
Autoři: Latvala T; Department of Ophthalmology, University of Oulu, Oulu, Finland., Mustonen E, Uusitalo R, Majamaa K
Zdroj: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2002 Oct; Vol. 240 (10), pp. 795-801. Date of Electronic Publication: 2002 Sep 21.
Způsob vydávání: Journal Article; Research Support, Non-U.S. Gov't
Jazyk: English
Informace o časopise: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0721-832X (Print) Linking ISSN: 0721832X NLM ISO Abbreviation: Graefes Arch Clin Exp Ophthalmol Subsets: MEDLINE
Imprint Name(s): Original Publication: Berlin ; New York : Springer-Verlag, c1982-
Výrazy ze slovníku MeSH: Pigment Epithelium of Eye*, DNA, Mitochondrial/*genetics , MELAS Syndrome/*genetics , Mutation/*genetics , Retinal Diseases/*genetics, Adult ; Aged ; Alanine ; Eye Diseases/genetics ; Female ; Glycine ; Humans ; Male ; Middle Aged
Abstrakt: Background: Our objective was to determine the penetrance of retinal pigment epithelium (RPE) abnormalities and other ophthalmologic manifestations in patients with the 3243A-->G mutation in mitochondrial DNA.
Methods: Adult members in two generations were examined from a population-based cohort of 13 pedigrees with 3243A-->G. Twenty-six patients underwent a thorough ophthalmological examination. A chart review was carried out on an additional 44 patients.
Results: Paramacular RPE atrophy and areas of hyperpigmentation were found in 10 patients (38%; 95% confidence interval 20-59%). Electroretinography was normal in only one of the eight patients tested, whereas dark adaptation was abnormal in two. RPE abnormalities were associated with more severe clinical phenotypes and higher degrees of 3243A-->G mutation heteroplasmy in muscle. Ten patients had diabetes mellitus, nine of whom had also RPE abnormalities. This finding, however, reflected the severity of the phenotype, and diabetic retinopathy was confidently diagnosed in only two patients. External ophthalmoplegia was detected in occasional patients.
Conclusion: RPE abnormalities were found in this population-based cohort at a frequency that was lower than that reported earlier. RPE abnormalities were associated with more severe phenotypes, suggesting that they are expressed in patients with syndromic features. RPE abnormalities and diabetes mellitus co-occurred frequently, but diabetic retinopathy was not common.
Substance Nomenclature: 0 (DNA, Mitochondrial)
OF5P57N2ZX (Alanine)
TE7660XO1C (Glycine)
Entry Date(s): Date Created: 20021025 Date Completed: 20030204 Latest Revision: 20131121
Update Code: 20221213
DOI: 10.1007/s00417-002-0555-y
PMID: 12397426
Autor: Latvala T; Department of Ophthalmology, University of Oulu, Oulu, Finland., Mustonen E, Uusitalo R, Majamaa K
Jazyk: angličtina
Zdroj: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2002 Oct; Vol. 240 (10), pp. 795-801. Date of Electronic Publication: 2002 Sep 21.
DOI: 10.1007/s00417-002-0555-y
Abstrakt: Background: Our objective was to determine the penetrance of retinal pigment epithelium (RPE) abnormalities and other ophthalmologic manifestations in patients with the 3243A-->G mutation in mitochondrial DNA.
Methods: Adult members in two generations were examined from a population-based cohort of 13 pedigrees with 3243A-->G. Twenty-six patients underwent a thorough ophthalmological examination. A chart review was carried out on an additional 44 patients.
Results: Paramacular RPE atrophy and areas of hyperpigmentation were found in 10 patients (38%; 95% confidence interval 20-59%). Electroretinography was normal in only one of the eight patients tested, whereas dark adaptation was abnormal in two. RPE abnormalities were associated with more severe clinical phenotypes and higher degrees of 3243A-->G mutation heteroplasmy in muscle. Ten patients had diabetes mellitus, nine of whom had also RPE abnormalities. This finding, however, reflected the severity of the phenotype, and diabetic retinopathy was confidently diagnosed in only two patients. External ophthalmoplegia was detected in occasional patients.
Conclusion: RPE abnormalities were found in this population-based cohort at a frequency that was lower than that reported earlier. RPE abnormalities were associated with more severe phenotypes, suggesting that they are expressed in patients with syndromic features. RPE abnormalities and diabetes mellitus co-occurred frequently, but diabetic retinopathy was not common.
Databáze: MEDLINE
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