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The clinical spectrum and disease course of DRAM2 retinopathy [Elektronski vir]Krašovec, Tjaša ...Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two ... Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described to date. Whole exome and whole genome sequencing were performed in the two patients, and both underwent ophthalmological examination with a 2-year follow-up. PubMed was searched for papers with clinical descriptions of DRAM2 retinopathy. Patient 1 was homozygous for a novel variant, p.Met1?, and presented with the acute onset of photopsia and retina-wide retinopathy at the age of 35 years. The patient was first thought to have an autoimmune retinopathy and was treated with mycophenolate mofetil, which provided some symptomatic relief. Patient 2 was compound heterozygous for p.Met1? and p.Leu246Pro and presented with lateonset maculopathy at the age of 59 years. On review, patients with DRAM2 retinopathy usually present in the third decade with central visual loss, outer retinal layer loss on optical coherence tomography and a hyperautofluorescent ring on fundus autofluorescence. Either cone–rod or rod– cone dystrophy phenotype is observed on electroretinography, reflecting the importance of DRAM2 in both photoreceptor types. Non-null variants can result in milder disease.Vir: International journal of molecular sciences [Elektronski vir]. - ISSN 1422-0067 (Vol. 23, iss. 13, 2022, str. 1-24)Vrsta gradiva - e-članekLeto - 2022Jezik - angleškiCOBISS.SI-ID - 147515139
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https://www.mdpi.com/1422-0067/23/13/7398Prost dostop
Repozitorij Univerze v Ljubljani – RUL
DOI
Avtor
Krašovec, Tjaša |
Volk, Marija, dr. med. |
Šuštar Habjan, Maja, 1979- |
Hawlina, Marko |
Vidović Valentinčič, Nataša |
Fakin, Ana
Teme
DRAM2 |
inherited retinal dystrophy |
genetic spectrum |
phenotype variability |
genotype– phenotype correlation |
fundus autofluorescence imaging |
electrophysiology |
DRAM2 |
podedovana distrofija mrežnice |
genetski spekter |
variabilnost fenotipa |
genotip-fenotip korelacija |
avtofluorescenčno slikanje fundusa |
elektrofiziologija
Vnos na polico
Trajna povezava
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Faktor vpliva
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Krašovec, Tjaša | |
Volk, Marija, dr. med. | 26331 |
Šuštar Habjan, Maja, 1979- | 25616 |
Hawlina, Marko | 09154 |
Vidović Valentinčič, Nataša | 20708 |
Fakin, Ana | 33340 |
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