Cargando…
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: | 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 |
Ejemplares similares
-
Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A
por: Krašovec, Tjaša, et al.
Publicado: (2023) -
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene
por: Kobal, Nina, et al.
Publicado: (2021) -
Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia
por: Petrovic Pajic, Sanja, et al.
Publicado: (2023) -
Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series
por: Petrovic Pajic, Sanja, et al.
Publicado: (2022) -
Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
por: Sajovic, Jana, et al.
Publicado: (2023)