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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...

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Autores principales: Krašovec, Tjaša, Volk, Marija, Šuštar Habjan, Maja, Hawlina, Marko, Vidović Valentinčič, Nataša, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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