Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 65 publications
In Vivo Human Cone Photoreceptor Inner Segment Diameter Database Using Adaptive Optics Retinal Imaging.
Journal: Investigative ophthalmology & visual science
Published: August 19, 2026
In vivo adaptive optics retinal imaging reveals rod-mediated cone photoreceptor disorganization in RHO-associated retinitis pigmentosa.
Journal: npj biomedical innovations
Published: April 07, 2026
ROSAH syndrome lacking splenomegaly and complete anhidrosis.
Journal: BMJ case reports
Published: February 05, 2026
Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state.
Journal: Cell reports
Published: February 02, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.
Journal: Journal of inherited metabolic disease
Published: August 26, 2025
Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease.
Journal: Orphanet journal of rare diseases
Published: July 28, 2025
Electroretinography With the RM Electrode: Normative Reference Ranges, Variation With Age, and Comparison With the Burian-Allen Electrode.
Journal: Translational vision science & technology
Published: June 06, 2025
Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant.
Journal: Stem cell research
Published: February 14, 2025
Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.
Journal: Journal of medical genetics
Published: January 30, 2025
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.
Journal: JAMA ophthalmology
Published: September 26, 2024
Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells.
Journal: Nucleic acid therapeutics
Published: September 12, 2024
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans.
Journal: Translational vision science & technology
Published: September 03, 2024
Last Updated: 09/26/2026