Last Updated: 09/26/2026
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Found 20 publications
Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.
Journal: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
Published: September 12, 2024
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Journal: American journal of human genetics
Published: September 12, 2024
The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18).
Journal: Ophthalmic research
Published: May 06, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Journal: European journal of human genetics : EJHG
Published: May 02, 2024
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
Journal: NPJ genomic medicine
Published: January 17, 2024
Autologous internal limiting membrane transplantation achieves anatomic closure and functional improvement in the treatment of large, persistent macular holes.
Journal: International journal of retina and vitreous
Published: November 28, 2023
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Journal: American journal of human genetics
Published: October 23, 2023
Relaxing radial retinal incisions for the treatment of persistent macular holes.
Journal: European journal of ophthalmology
Published: September 13, 2023
Human selection bias drives the linear nature of the more ground truth effect in explainable deep learning optical coherence tomography image segmentation.
Journal: Journal of biophotonics
Published: July 15, 2023
High-efficiency base editing in the retina in primates and human tissues.
Journal: Nature medicine
Published: May 11, 2023
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Journal: Human molecular genetics
Published: June 20, 2022
Last Updated: 09/26/2026