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Last Updated: 10/31/2025

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Found 318 publications

Progressive Cone Dystrophy and Cone-Rod Dystrophy.

Progressive Cone Dystrophy and Cone-Rod Dystrophy.

Journal: Advances in experimental medicine and biology
Published: July 30, 2025

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant.

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant.

Journal: American journal of ophthalmology case reports
Published: January 20, 2025

First reported autosomal recessive macular and cone dystrophy linked to homozygous PRPH2 variant in two Calabrian families.

First reported autosomal recessive macular and cone dystrophy linked to homozygous PRPH2 variant in two Calabrian families.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
Published: January 17, 2025

Assessing Macular Vessel Density in Iraqi Cone Dystrophy Patients Using Optical Coherence Tomography Angiography (OCTA): A Cross-Sectional Study.

Assessing Macular Vessel Density in Iraqi Cone Dystrophy Patients Using Optical Coherence Tomography Angiography (OCTA): A Cross-Sectional Study.

Journal: Cureus
Published: January 14, 2025

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Journal: Genes
Published: November 29, 2024

Dysfunction of Unc119, a transducin-binding protein, leads to cone-rod dystrophy through activating JAK-STAT and NF-κB inflammatory pathways in the mouse retina.

Dysfunction of Unc119, a transducin-binding protein, leads to cone-rod dystrophy through activating JAK-STAT and NF-κB inflammatory pathways in the mouse retina.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: November 26, 2024

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.

Journal: Ophthalmic genetics
Published: November 21, 2024

ANALYSIS OF HENLE FIBER LAYER AND OUTER RETINAL LAYERS IN CONE DYSTROPHY.

ANALYSIS OF HENLE FIBER LAYER AND OUTER RETINAL LAYERS IN CONE DYSTROPHY.

Journal: Retina (Philadelphia, Pa.)
Published: October 25, 2024

Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia in RPGR-Related Retinal Dystrophy.

Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia in RPGR-Related Retinal Dystrophy.

Journal: Journal of ophthalmology
Published: August 28, 2024

A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.

A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.

Journal: Ophthalmic surgery, lasers & imaging retina
Published: August 22, 2024

Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.

Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.

Journal: Journal of clinical medicine
Published: July 15, 2024

Novel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.

Novel compound heterozygous CNGA3 mutation associated with retinal cone dystrophy.

Journal: Experimental and therapeutic medicine
Published: July 10, 2024
Showing 1-12 of 318

Last Updated: 10/31/2025