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Last Updated: 10/31/2025
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Found 144 publications
Blue Cone Monochromatism.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.
Journal: International journal of molecular sciences
Published: March 19, 2025
Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.
Journal: PloS one
Published: October 28, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Journal: Investigative ophthalmology & visual science
Published: August 27, 2024
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Journal: Ophthalmology. Retina
Published: February 02, 2024
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Journal: Retina (Philadelphia, Pa.)
Published: December 20, 2023
Colour vision impairments in bipolar disorder: A systematic review.
Journal: Neuroscience applied
Published: December 08, 2023
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Journal: Progress in retinal and eye research
Published: October 26, 2023
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: August 25, 2023
Canine and Feline Models of Inherited Retinal Diseases.
Journal: Cold Spring Harbor perspectives in medicine
Published: May 22, 2023
Last Updated: 10/31/2025