ArticleMolecular vision2009
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 32 citations in OpenAlex.
- Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Trial
- From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.Investigative ophthalmology & visual science · 2024Article
- Human retina-in-a-dish: Unlocking the potential to study mechanisms of inherited retinal disease.Molecular therapy. Methods & clinical development · 2023Article
- Oxidative Model of Retinal Neurodegeneration Induced by Sodium Iodate: Morphofunctional Assessment of the Visual Pathway.Antioxidants (Basel, Switzerland) · 2023Article
- Relative preservation of the extramacular retina inAmerican journal of ophthalmology case reports · 2022Article
- Review
- Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.Investigative ophthalmology & visual science · 2020Article
- Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function.Vision research · 2020Article
- Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.Investigative ophthalmology & visual science · 2017Article
- Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients.Investigative ophthalmology & visual science · 2015Article
- Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.Investigative ophthalmology & visual science · 2015Article
- Leber congenital amaurosis caused by mutations in GUCY2D.Cold Spring Harbor perspectives in medicine · 2014Review
- The role of primary cilia in the development and disease of the retina.Organogenesis · 2014Review
- Towards a quantitative OCT image analysis.PloS one · 2014Article
- Insights gained from gene therapy in animal models of retGC1 deficiency.Frontiers in molecular neuroscience · 2014Review
- Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.Human mutation · 2013Article
- Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.Human molecular genetics · 2013Article
- Blurring the boundaries of vision: novel functions of intrinsically photosensitive retinal ganglion cells.Journal of experimental neuroscience · 2013Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin (LCA5) mutation.
methodsTwo young unrelated LCA patients, ages six years (P1) and 25 years (P2) at last visit, both with the same homozygous mutation in the LCA5 gene, were evaluated clinically and with noninvasive studies. En face imaging was performed with near-infrared (NIR) reflectance and autofluorescence (AF); cross-sectional retinal images were obtained with optical coherence tomography (OCT). Dark-adapted thresholds were measured in the older patient; and the transient pupillary light reflex was recorded and quantified in both patients.
resultsBoth LCA5 patients had light perception vision only, hyperopia, and nystagmus. P1 showed a prominent central island of retinal pigment epithelium (RPE) surrounded by alternating elliptical-appearing areas of decreased and increased pigmentation. Retinal laminar architecture at and near the fovea was abnormal in both patients. Foveal outer nuclear layer (ONL) was present in P1 and P2 but to different degrees. With increasing eccentricity, there was retinal laminar disorganization. Regions of pericentral and midperipheral retina in P1, but not P2, could retain measurable ONL and less laminopathy. P2 had a small central island of perception with >5 log units of sensitivity loss. Pupillary responsiveness was present in both LCA5 patients; the thresholds were abnormally elevated by >or=5.5 log units.
conclusionsLCA5 patients had evidence of retained photoreceptors mainly in the central retina. Retinal remodeling was present in pericentral regions in both patients. The NIR reflectance and NIR-AF imaging in the younger patient suggested preserved RPE in retinal regions with retained photoreceptors. Detailed phenotype studies in other LCA5 patients with longitudinal follow-up will help determine the feasibility of future intervention in this rare disease.
Indexed as
Identifiers
19503738PMC2690955W2159213621What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.