Phenotype-genotype correlations in patients with inherited retinal diseases with p.G1961E mutation in the ABCA4 gene

Шеремет, Н Л; Grushke, I.G.; Жоржоладзе, Н.В.; Ронзина, И А; Mikaelyan, А.А.; Кадышев, В. В.; Танас, А. С.; Anoshkin, K.I.; Стрельников, В. В.

doi:10.17116/oftalma201913504110

Cited by 2 publications

(1 citation statement)

References 18 publications

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“…Full-field ERG in 2021 is only used in 84% of the centers compared to 2019 where ffERG was done in 97% of the centers. This likely reflects the increasing use of retinal OCT to diagnose and follow patients with IRDs due to the characteristic findings and biomarkers that have been developed to monitor disease progression first reported in 2011 [16,17] and since then used in many other studies [18][19][20][21][22][23][24][25][26][27]. Genetic testing is widely used; however, there is still a significant percentage of patients who are not tested.…”

Section: Discussionmentioning

confidence: 99%

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

et al. 2023

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Introduction: An increasing number of gene-specific therapies are being developed for IRDs. Identification of well characterized patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE members to understand the management and treatment of IRDs in Europe and compared it to the 2019 survey. Methods: An electronic survey questionnaire was developed and sent to 124 clinical centers (25 countries) by June/July 2021. Statistical analysis was performed with Excel and R. Results: The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (2019 survey 14%); 42% follow at least 200 patients per year, 18% follow 500-999 and 2% more than 1000. Databases exist in 86% of the centers (local 86%; national web-based 12%). IRD patients are referred to EVICR.net and ERN-EYE centers mainly by general ophthalmologists, patient self-referral, or medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on age of onset: in infancy nystagmus, at older age night blindness and reduced visual field; reduced visual acuity (VA) is described at any age. Comprehensive ophthalmic examination always includes VA, and almost always visual fields multimodal retinal imaging, electrophysiology, color vision testing, and refraction. Identification of genotypes is successful in 72% of centers in 40-80% of cases (2019 survey 69% of centers). The time for confirmation of the genetic diagnosis varies from 2-4 weeks to 24 months (2019 survey > 4 weeks ≤ 10 years). Genetic testing is covered by public health service in 83%, private health insurance in 29%, research funds in 24%; 5% do not have access to genetic testing (2019 survey 15%). The most striking result is the high increase in the involvement of centers in natural history and gene therapy trials that for the latter more than doubled. Discussion/Conclusion: This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping in diagnostic laboratories. The important increase of involvement of centers in natural history and gene therapy trials reflects the rapidly evolving field of gene therapy development. The survey provides important follow-up data for researchers, clinicians, care givers, patient advocate groups, pharmaceutical companies and investors.

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Section: Discussionmentioning

confidence: 99%

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

et al. 2023

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Inactive macular neovascularization in Stargardt’s disease

Volodin,

Pedanova,

Matyaeva

et al. 2023

Ophthalmology Reports

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The article describes a case report of bilateral inactive macular neovascularization in Stargardts disease in a young woman. The data of the ophthalmological examination, as well as those of the molecular genetic analysis are presented, the tactics of the patients care is discussed. No case report of the kind has been described in the literature previously, and therefore this one is of great interest.

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Phenotype-genotype correlations in patients with inherited retinal diseases with p.G1961E mutation in the ABCA4 gene

Cited by 2 publications

References 18 publications

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net

Inactive macular neovascularization in Stargardt’s disease

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