Last Updated: 09/26/2026
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Found 182 publications
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration.
Journal: HGG advances
Published: December 01, 2025
Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.
Journal: Investigative ophthalmology & visual science
Published: September 24, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.
Journal: Translational vision science & technology
Published: August 27, 2025
Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study.
Journal: Investigative ophthalmology & visual science
Published: August 12, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity." Am J Ophthalmol. 2020; 219:87-100.
Journal: American journal of ophthalmology
Published: August 03, 2025
Evaluating the clinical utility of multimodal large language models in rare maculopathy.
Journal: Scientific reports
Published: May 25, 2025
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).
Journal: Journal of inherited metabolic disease
Published: March 24, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity" [Am J Ophthalmol 2020;219:87-100].
Journal: American journal of ophthalmology
Published: March 08, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.
Journal: Investigative ophthalmology & visual science
Published: February 05, 2025
Last Updated: 09/26/2026