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About 785 results

ALLMedicine™ Leber Congenital Amaurosis Center

Research & Reviews  290 results

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the C...
https://doi.org/10.1371/journal.pgen.1009798
PLoS Genetics; Weatherly SM, Collin GB et. al.

Jun 9th, 2022 - Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without Coats-like vasculopathy), foveal retinoschisis, macular dystrophy, and ...

PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio seque...
https://doi.org/10.1016/j.gene.2022.146554
Gene Sorrentino E, Albion E et. al.

May 16th, 2022 - Third generation sequencing methods, like PacBio, provide information about structural variants, introns, enhancers and promoters. We developed an automated pipeline, called PacMAGI, including quality control, alignment, SNV, INDELs, structural va...

RDH12 retinopathy: clinical features, biology, genetics and future directions.
https://doi.org/10.1080/13816810.2022.2062392
Ophthalmic Genetics; Daich Varela M, Michaelides M

May 3rd, 2022 - Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. It is primarily located in photoreceptor inner segments and thereby is believed to have an important role in clearing ...

A novel phenotype associated with the R162W variant in the KCNJ13 gene.
https://doi.org/10.1080/13816810.2022.2068041
Ophthalmic Genetics; Schroeder M, Peter VG et. al.

Apr 29th, 2022 - Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to incr...

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Clinicaltrials.gov  5 results

Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
https://clinicaltrials.gov/ct2/show/NCT01208389

Mar 12th, 2021 - The study is a follow-on to a Phase 1 dose-escalation and safety study (closed to enrollment as of June 2009). Up to twelve adults and children with a molecular diagnosis of biallelic RPE65 mutations, who have participated in the earlier Phase 1 s...

Safety Study in Subjects With Leber Congenital Amaurosis
https://clinicaltrials.gov/ct2/show/NCT00516477

Nov 2nd, 2020 - Leber Congenital Amaurosis (LCA)is a severe early onset retinal degeneration. Diagnosis is usually made during the first few months of life in infants who present with severely impaired vision, abnormal eye movements (nystagmus) and abnormal elect...

Treatment of RP and LCA by Primary RPE Transplantation
https://clinicaltrials.gov/ct2/show/NCT03566147

Aug 9th, 2018 - Early Phase I Study of the Safety and Preliminary Efficacy of Human primary Retinal Pigment Epithelial (HuRPE) Cells Subretinal Transplantation in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) Patients

Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis
https://clinicaltrials.gov/ct2/show/NCT00749957

Dec 28th, 2017 - This will be a non-randomized, open label study. A total of 12 participants will be enrolled into two groups of 6 each. Each participant will receive rAAV2 CB hRPE65 by subretinal injection in one eye on a single occasion. Participants in Group 1 ...

Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)
https://clinicaltrials.gov/ct2/show/NCT01521793

Jul 28th, 2014 - The purpose of this study is: To evaluate the safety of up to 3 additional courses of oral QLT091001 administered once daily for 7 days in subjects treated previously with a single 7-day course of QLT091001 in Study RET IRD 01 To evaluate whether ...

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News  19 results

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446_1

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

Four Ocular Abnormalities Not to Overlook in Children
https://www.medscape.com/viewarticle/907446

Jan 17th, 2019 - Because the visual system is still developing in children, the consequences of missing ocular or vision abnormalities in these patients are profound, possibly resulting in a lifetime of disability. Even a subtle ocular sign can be the initial mani...

NIH Vision Researcher Among Seven to Receive Top Global Award
https://www.staging.medscape.com/viewarticle/901614

Sep 5th, 2018 - T. Michael Redmond, PhD, chief of the National Eye Institute (NEI) Laboratory of Retinal Cell and Molecular Biology, has received the 2018 António Champalimaud Vision Award — one of the world's most prestigious awards in vision science — for his r...

NIH Vision Researcher Among Seven to Receive Top Global Award
https://www.medscape.com/viewarticle/901614

Sep 5th, 2018 - T. Michael Redmond, PhD, chief of the National Eye Institute (NEI) Laboratory of Retinal Cell and Molecular Biology, has received the 2018 António Champalimaud Vision Award — one of the world's most prestigious awards in vision science — for his r...

Gene Therapy for Retinal Diseases Is Within Sight
https://www.medscape.com/viewarticle/824467

May 7th, 2014 - Advances in Vitreoretinal Disease Management Many vitreoretinal pathologies have witnessed impressive advances in their management over the past decade. Most of these advances have involved pharmacologic innovation aimed at controlling exudative d...

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