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Last Updated: 01/07/2026

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Found 952 publications

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

Journal: JAMA ophthalmology
Published: December 04, 2025

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.

Journal: Journal of investigative medicine : the official publication of the American Federation for Clinical Research
Published: November 11, 2025

Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST).

Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST).

Journal: Investigative ophthalmology & visual science
Published: October 28, 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

Unveiling Inflammation-Like Retinal Remodeling in CRB1-Associated Inherited Retinal Dystrophies: Insights from a Multicenter Study.

Unveiling Inflammation-Like Retinal Remodeling in CRB1-Associated Inherited Retinal Dystrophies: Insights from a Multicenter Study.

Journal: American journal of ophthalmology
Published: August 07, 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
Showing 1-12 of 952

Last Updated: 01/07/2026