Found: 42
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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
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- Publication type:
- Article
New Imaging Technology for Simultaneous Multiwavelength-UWF Fundus Fluorescein Angiography and Indocyanine Green Angiography With Navigated Central and Peripheral SS-OCT.
- Published in:
- Ophthalmic Surgery, Lasers & Imaging Retina, 2023, v. 54, n. 7, p. 401, doi. 10.3928/23258160-20230607-01
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- Publication type:
- Article
A Depth-Based Head-Mounted Visual Display to Aid Navigation in Partially Sighted Individuals.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067695
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- Publication type:
- Article
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65 -Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1484, doi. 10.3390/biom13101484
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- Publication type:
- Article
Understanding the impact of genetic testing for inherited retinal dystrophy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1209, doi. 10.1038/ejhg.2013.19
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- Publication type:
- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
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- Publication type:
- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
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- Publication type:
- Article
Designing and testing scene enhancementalgorithms for patients with retina degenerativedisorders.
- Published in:
- BioMedical Engineering OnLine, 2010, v. 9, p. 27, doi. 10.1186/1475-925X-9-27
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- Publication type:
- Article
Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.
- Published in:
- Vision (2411-5150), 2023, v. 7, n. 1, p. 18, doi. 10.3390/vision7010018
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- Publication type:
- Article
The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions.
- Published in:
- Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211056384
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- Publication type:
- Article
Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2023.1331889
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- Publication type:
- Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
- Published in:
- 2020
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- Publication type:
- journal article
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.
- Published in:
- 2019
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- Publication type:
- journal article
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
- Published in:
- JAMA Network Open, 2019, v. 2, n. 6, p. e195752, doi. 10.1001/jamanetworkopen.2019.5752
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- Publication type:
- Article
Sleep, light and the eye.
- Published in:
- Optometry in Practice, 2023, v. 24, n. 1, p. 1
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- Publication type:
- Article
Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES).
- Published in:
- BMC Ophthalmology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12886-023-03038-5
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- Publication type:
- Article
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
- Published in:
- Ophthalmic Research, 2020, v. 63, n. 3, p. 234, doi. 10.1159/000505001
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- Publication type:
- Article
Long‐term follow‐up of chronic central serous chorioretinopathy after successful treatment with photodynamic therapy or micropulse laser.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 7, p. 805, doi. 10.1111/aos.14775
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- Publication type:
- Article
Atypical choroideremia presenting with early‐onset macular atrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 6, p. 633, doi. 10.1111/aos.14025
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- Publication type:
- Article
'Persistant bilateral relative central scotomas induced by taking an excessive dose of sildenafil'.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 6, p. e496, doi. 10.1111/j.1755-3768.2011.02362.x
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- Publication type:
- Article
Comparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial.
- Published in:
- 2015
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- Publication type:
- journal article
Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
- Published in:
- Movement Disorders, 2023, v. 38, n. 6, p. 959, doi. 10.1002/mds.29277
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- Publication type:
- Article
The Role of Inflammation in Age-Related Macular Degeneration—Therapeutic Landscapes in Geographic Atrophy.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 16, p. 2092, doi. 10.3390/cells12162092
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- Publication type:
- Article
Rapid Quantification of the Binocular Visual Field for Clinical Trials: Performance of a Modified Esterman Supra-Threshold Test Implemented with the Open Perimetry Interface.
- Published in:
- Clinical Ophthalmology, 2022, v. 16, p. 1513, doi. 10.2147/OPTH.S352004
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- Publication type:
- Article
Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life.
- Published in:
- Clinical Ophthalmology, 2017, v. 11, p. 39, doi. 10.2147/OPTH.S115685
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- Publication type:
- Article
Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2023.1331889
- By:
- Publication type:
- Article
Retinal Angiomatous Proliferation in a Patient with Retinitis Pigmentosa.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1438, doi. 10.3390/genes14071438
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- Publication type:
- Article
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation.
- Published in:
- 2023
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- Publication type:
- Case Study
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1423, doi. 10.3390/genes13081423
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- Publication type:
- Article
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1241, doi. 10.3390/genes12081241
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- Publication type:
- Article
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1497, doi. 10.3390/genes11121497
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- Publication type:
- Article
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1288, doi. 10.3390/genes11111288
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- Publication type:
- Article
Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy.
- Published in:
- Genes, 2018, v. 9, n. 12, p. 643, doi. 10.3390/genes9120643
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- Publication type:
- Article
Age-related macular degeneration: suitability of optogenetic therapy for geographic atrophy.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1415575
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- Publication type:
- Article
Outcome of half-dose photodynamic therapy in chronic central serous chorioretinopathy with fovea-involving atrophy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 4, p. 905, doi. 10.1007/s00417-020-04959-3
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- Publication type:
- Article
Patient characteristics of untreated chronic central serous chorioretinopathy patients with focal versus diffuse leakage.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 7, p. 1419, doi. 10.1007/s00417-019-04333-y
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- Publication type:
- Article
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 2, p. 273, doi. 10.1093/hmg/7.2.273
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- Publication type:
- Article
Functional Brain Imaging During Extra-Ocular Light Stimulation in Anophthalmic and Sighted Participants: No Evidence for Extra-Ocular Photosensitive Receptors.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.744543
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- Publication type:
- Article
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article