Disease Progression in < em > CNGA3 < /em > and < em > CNGB3 < /em > Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
Curr Issues Mol Biol. 2021 Aug 16;43(2):941-957. doi: 10.3390/cimb43020067.ABSTRACTAchromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the classification of structural macular changes. However, their association with age remains questionable. We characterized the Slovenian cohort of 12 patients with pathogenic variants in CNGA3 or CNGB3 who had been followed up with OCT for up to 9 years. Based on observed structural changes in associ...
Source: Current Issues in Molecular Biology - August 27, 2021 Category: Molecular Biology Authors: Manca Tekav čič Pompe Nika Vrabi č Marija Volk Andrej Megli č Martina Jarc-Vidmar Borut Peterlin Marko Hawlina Ana Fakin Source Type: research
Disease Progression in < em > CNGA3 < /em > and < em > CNGB3 < /em > Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
Curr Issues Mol Biol. 2021 Aug 16;43(2):941-957. doi: 10.3390/cimb43020067.ABSTRACTAchromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the classification of structural macular changes. However, their association with age remains questionable. We characterized the Slovenian cohort of 12 patients with pathogenic variants in CNGA3 or CNGB3 who had been followed up with OCT for up to 9 years. Based on observed structural changes in associ...
Source: Current Issues in Molecular Biology - August 27, 2021 Category: Molecular Biology Authors: Manca Tekav čič Pompe Nika Vrabi č Marija Volk Andrej Megli č Martina Jarc-Vidmar Borut Peterlin Marko Hawlina Ana Fakin Source Type: research
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes
CONCLUSIONS: Previously, there were no comprehensive reports of IRDs in the Polish population. This study is the first to indicate that the most common IRDs in Poland are ABCA4-associated diseases, regardless of the phenotype. In Polish patients with RP, the second most prevalent causal gene was RHO and the third RPGR, while there were not as many mutations in EYS as in Western populations. The number of initial erroneous diagnoses may be the result of limited access to diagnostics with advanced tools, such as electroretinography; however, it is necessary to raise awareness among Polish ophthalmologists of rare IRDs. Addit...
Source: Molecular Vision - July 29, 2021 Category: Molecular Biology Authors: Anna M Tracewska Beata Kocy ła-Karczmarewicz Agnieszka Rafalska Joanna Murawska Joanna Jakubaszko-Jab łónska Ma łgorzata Rydzanicz Piotr Stawi ński El żbieta Ciara Beata S Lipska-Zi ętkiewicz Muhammad Imran Khan Frans P M Cremers Rafa ł Płoski Kr Source Type: research
