Cone Dystrophy Latest Advances

Find the Latest Research About Cone Dystrophy

Last Updated: 06/30/2026

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Found 326 publications

Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic 'solar flare' sign.

Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic 'solar flare' sign.

Journal: Ophthalmic genetics
Published: June 18, 2026

The Value of Multimodal Approach in Identification of Cone Dystrophy with Supernormal Rod Response.

The Value of Multimodal Approach in Identification of Cone Dystrophy with Supernormal Rod Response.

Journal: Klinische Monatsblatter fur Augenheilkunde
Published: March 17, 2026

Rod-Cone Dystrophy Related WDR34 Is Essential for Ciliary Integrity and Survival of Mammalian Photoreceptor Cells.

Rod-Cone Dystrophy Related WDR34 Is Essential for Ciliary Integrity and Survival of Mammalian Photoreceptor Cells.

Journal: Investigative ophthalmology & visual science
Published: March 10, 2026

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report.

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report.

Journal: Cureus
Published: February 12, 2026

Double Annulus in SPATA7 Rod Cone Dystrophy.

Double Annulus in SPATA7 Rod Cone Dystrophy.

Journal: Ophthalmology. Retina
Published: February 03, 2026

Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy.

Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy.

Journal: JAMA ophthalmology
Published: January 02, 2026

Dystrophin-gene mutation location influences severity of electroretinogram defects in mouse models of Duchenne muscular dystrophy.

Dystrophin-gene mutation location influences severity of electroretinogram defects in mouse models of Duchenne muscular dystrophy.

Journal: BMC medicine
Published: November 28, 2025

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

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

Journal: American journal of human genetics
Published: April 01, 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
Showing 1-12 of 326

Last Updated: 06/30/2026