Leber Congenital Amaurosis Latest Advances

Halofantrine protects photoreceptors in multiple models of retinal degeneration.

Journal: Research square

Published: May 25, 2026

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

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

Journal: Ophthalmic genetics

Published: March 30, 2026

Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies

Journal: Vestnik oftalmologii

Published: March 18, 2026

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.

Journal: Ophthalmic genetics

Published: March 18, 2026

Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies

Journal: Vestnik oftalmologii

Published: March 18, 2026

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

Journal: Molecular biology reports

Published: February 20, 2026

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

Journal: International journal of biological sciences

Published: February 06, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

Journal: American journal of ophthalmology

Published: January 29, 2026

Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: January 23, 2026

Leber Congenital Amaurosis Latest Advances

Find the Latest Research About Leber Congenital Amaurosis

Halofantrine protects photoreceptors in multiple models of retinal degeneration.

Halofantrine protects photoreceptors in multiple models of retinal degeneration.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

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

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

Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.

Crop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.

Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies

Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.

Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies

Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation.

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.

Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.