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Last Updated: 10/31/2025

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Found 949 publications

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.

A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.

Journal: Ophthalmic genetics
Published: October 07, 2025

One down but many more to go: the state of gene therapy for inherited retinal disease.

One down but many more to go: the state of gene therapy for inherited retinal disease.

Journal: Regenerative medicine
Published: October 07, 2025

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Journal: Investigative ophthalmology & visual science
Published: August 29, 2025

A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.

A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.

Journal: Ophthalmic genetics
Published: August 26, 2025

Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis

Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025

Leber Congenital Amaurosis.

Leber Congenital Amaurosis.

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

Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study.

Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study.

Journal: Journal of clinical medicine
Published: July 25, 2025

Preventing vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA.

Preventing vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA.

Journal: bioRxiv : the preprint server for biology
Published: July 17, 2025

Preventing vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA.

Preventing vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA.

Journal: bioRxiv : the preprint server for biology
Published: July 17, 2025

Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.

Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.

Journal: Genes
Published: June 17, 2025

Oxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1 -Associated Inherited Retinal Degeneration: A Therapeutic Opportunity.

Oxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1 -Associated Inherited Retinal Degeneration: A Therapeutic Opportunity.

Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Journal: Investigative ophthalmology & visual science
Published: June 04, 2025
Showing 1-12 of 949

Last Updated: 10/31/2025