ArticleOphthalmic genetics2017
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Article in Ophthalmic genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.Investigative ophthalmology & visual science · 2024Article
- Article
- Pseudocoloboma-like maculopathy with biallelicJournal of medical genetics · 2023Article
- Primary versus Secondary Elevations in Fundus Autofluorescence.International journal of molecular sciences · 2023Review
- How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.International journal of molecular sciences · 2023Review
- Novel disease-causing variant inThe British journal of ophthalmology · 2022Article
- Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.Brain topography · 2022Article
- Retrospective Natural History Study ofInternational journal of molecular sciences · 2022Article
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- Review
- Gene Therapy forDrug design, development and therapy · 2021Article
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Quasidominance in autosomal recessiveOphthalmic genetics · 2020Article
- Detailed clinical characterisation, unique features and natural history of autosomal recessiveThe British journal of ophthalmology · 2019Article
- Development of a Gene Therapy Vector forHuman gene therapy · 2019Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPeripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND
methodsWe present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12.
resultsFundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients. Spectral domain-optical coherence tomography confirmed relative preservation in this area along with retinal thinning and excavation throughout the rest of the macula. LCA was diagnosed based on clinical exam and retinal imaging, and subsequently confirmed with genetic testing.
conclusionsPeripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.
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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.