The clinical spectrum and disease course of DRAM2 retinopathy

Krašovec, Tjaša (avtor), Volk, Marija (avtor), Šuštar Habjan, Maja (avtor), Hawlina, Marko (avtor), Vidović Valentinčič, Nataša (avtor), Fakin, Ana (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: DRAM2, inherited retinal dystrophy, genetic spectrum, phenotype variability, genotype–phenotype correlation, fundus autofluorescence imaging, electrophysiology
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2022
• Št. strani: 24 str.
• Številčenje: Vol. 23, iss. 13, art. 7398
• PID: 20.500.12556/RUL-155547
• UDK: 617.7
• ISSN pri članku: 1422-0067
• DOI: 10.3390/ijms23137398
• COBISS.SI-ID: 147515139
• Datum objave v RUL: 05.04.2024

Gradivo je del revije

• Naslov: International journal of molecular sciences
• Skrajšan naslov: Int. j. mol. sci.
• Založnik: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: DRAM2, podedovana distrofija mrežnice, genetski spekter, variabilnost fenotipa, genotip-fenotip korelacija, avtofluorescenčno slikanje fundusa, elektrofiziologija

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: J3-1750
• Naslov: Priprava pogojev za gensko zdravljenje dednih očesnih bolezni