Cone-Rod Dystrophy Latest Advances

Find the Latest Research About Cone-Rod Dystrophy

Last Updated: 06/30/2026

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Found 489 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

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: an ophthalmological description of a new case of SHRF syndrome.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: an ophthalmological description of a new case of SHRF syndrome.

Journal: Ophthalmic genetics

Published: May 25, 2026

MERTK-associated retinal dystrophy: clinical course and imaging.

MERTK-associated retinal dystrophy: clinical course and imaging.

Journal: Ophthalmic genetics

Published: May 04, 2026

Clinical case of an inherited retinal disease with late manifestation

Clinical case of an inherited retinal disease with late manifestation

Journal: Vestnik oftalmologii

Published: April 28, 2026

Preclinical CRX augmentation therapies for CRX-associated autosomal dominant cone-rod dystrophies.

Preclinical CRX augmentation therapies for CRX-associated autosomal dominant cone-rod dystrophies.

Journal: bioRxiv : the preprint server for biology

Published: April 17, 2026

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

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

Journal: eLife

Published: April 17, 2026

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

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

Journal: Retinal cases & brief reports

Published: April 01, 2026

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

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

Journal: Ophthalmic genetics

Published: March 30, 2026

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.

Journal: Ophthalmic genetics

Published: March 30, 2026

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal: Journal of medical genetics

Published: March 12, 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

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

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

Journal: Cureus

Published: February 13, 2026

Showing 1-12 of 489

Last Updated: 06/30/2026