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The Clinical Spectrum and Disease Course of DRAM2 Retinopathy
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266529/ https://www.ncbi.nlm.nih.gov/pubmed/35806404 http://dx.doi.org/10.3390/ijms23137398 |
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author | Krašovec, Tjaša Volk, Marija Šuštar Habjan, Maja Hawlina, Marko Vidović Valentinčič, Nataša Fakin, Ana |
author_facet | Krašovec, Tjaša Volk, Marija Šuštar Habjan, Maja Hawlina, Marko Vidović Valentinčič, Nataša Fakin, Ana |
author_sort | Krašovec, Tjaša |
collection | PubMed |
description | 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 late-onset 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. |
format | Online Article Text |
id | pubmed-9266529 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92665292022-07-09 The Clinical Spectrum and Disease Course of DRAM2 Retinopathy Krašovec, Tjaša Volk, Marija Šuštar Habjan, Maja Hawlina, Marko Vidović Valentinčič, Nataša Fakin, Ana Int J Mol Sci Article 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 late-onset 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. MDPI 2022-07-02 /pmc/articles/PMC9266529/ /pubmed/35806404 http://dx.doi.org/10.3390/ijms23137398 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Krašovec, Tjaša Volk, Marija Šuštar Habjan, Maja Hawlina, Marko Vidović Valentinčič, Nataša Fakin, Ana The Clinical Spectrum and Disease Course of DRAM2 Retinopathy |
title | The Clinical Spectrum and Disease Course of DRAM2 Retinopathy |
title_full | The Clinical Spectrum and Disease Course of DRAM2 Retinopathy |
title_fullStr | The Clinical Spectrum and Disease Course of DRAM2 Retinopathy |
title_full_unstemmed | The Clinical Spectrum and Disease Course of DRAM2 Retinopathy |
title_short | The Clinical Spectrum and Disease Course of DRAM2 Retinopathy |
title_sort | clinical spectrum and disease course of dram2 retinopathy |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266529/ https://www.ncbi.nlm.nih.gov/pubmed/35806404 http://dx.doi.org/10.3390/ijms23137398 |
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