Cone-Rod Dystrophy Latest Advances

Early-onset hydroxychloroquine maculopathy: on the importance of genetic work-up.

Journal: Retinal cases & brief reports

Published: April 01, 2026

Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.

Journal: Ophthalmic genetics

Published: March 30, 2026

Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.

Journal: Ophthalmic genetics

Published: March 30, 2026

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

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.

Journal: BMJ open

Published: February 27, 2026

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy.

Journal: Cureus

Published: February 13, 2026

Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy.

Journal: bioRxiv : the preprint server for biology

Published: February 06, 2026

Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy.

Journal: bioRxiv : the preprint server for biology

Published: February 06, 2026

Double Annulus in SPATA7 Rod Cone Dystrophy.

Journal: Ophthalmology. Retina

Published: February 03, 2026

Irreversible Ocular and Systemic Damage in ROSAH Syndrome.

Journal: Ophthalmology and therapy

Published: January 07, 2026

Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.

Journal: Ophthalmology. Retina

Published: January 04, 2026

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: December 30, 2025

Cone-Rod Dystrophy Latest Advances

Find the Latest Research About Cone-Rod Dystrophy

Early-onset hydroxychloroquine maculopathy: on the importance of genetic work-up.

Early-onset hydroxychloroquine maculopathy: on the importance of genetic work-up.

Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.

Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.

Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.

Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.

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.

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review.

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy.

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy.

Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy.

Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy.

Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy.

Cdhr1a and pcdh15b link photoreceptor outer segments with inner segment calyceal processes revealing a potential mechanism for cone-rod dystrophy.

Double Annulus in SPATA7 Rod Cone Dystrophy.

Double Annulus in SPATA7 Rod Cone Dystrophy.

Irreversible Ocular and Systemic Damage in ROSAH Syndrome.

Irreversible Ocular and Systemic Damage in ROSAH Syndrome.

Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.

Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.