Leber Congenital Amaurosis Latest Advances

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

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

Establishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis.

Journal: Stem cell research

Published: December 02, 2025

Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.

Journal: Molecular biology reports

Published: November 27, 2025

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

Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.

Journal: Journal of controlled release : official journal of the Controlled Release Society

Published: November 04, 2025

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Journal: International journal of molecular sciences

Published: October 31, 2025

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

Journal: Investigative ophthalmology & visual science

Published: October 28, 2025

Leber Congenital Amaurosis Latest Advances

Find the Latest Research About Leber Congenital Amaurosis

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

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.

Establishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis.

Establishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis.

Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.

Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.

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.

Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.

Retinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

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).