The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes [PDF]
Scientific Reports, 2017 Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta +5 more
doaj +2 more sources
Inherited Retinal dystrophy and Quality of Life Questionnaire: a Scoping review
, 2022 The purpose of this study is to review which questionnaires are used to assess the Health-Related Quality of Life (HRQoL) of patients with Inherited Retinal Dystrophy (IRD).
Juliana Maria Ferraz Sallum +1 more
core +8 more sources
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L. +3 more
core +8 more sources
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Orphanet Journal of Rare Diseases, 2022 Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh +15 more
doaj +1 more source
Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 more
doaj +1 more source
Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics—A Study on 53 Eyes
Diagnostics, 2023 Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms ...
Katarzyna Samelska +4 more
doaj +1 more source
Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy
, 2022 PURPOSETo report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy. METHODSCase report. RESULTSA 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion.
Kennedy, Thomas +3 more
core +1 more source
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Scientific Reports, 2022 Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of ...
Mythily Ganapathi +15 more
doaj +1 more source
Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging
Life, 2023 Inherited retinal dystrophies (IRDs) are bilateral genetic conditions of the retina, leading to irreversible vision loss. This study included 55 eyes afflicted with IRDs affecting the macula.
Katarzyna Samelska +3 more
doaj +1 more source
Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]
, 2003 Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
core +1 more source