<i>NRL</i> -associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search
This study expands the genotype and phenotype of NRL-associated retinopathy and compares the ocular phenotype of our cohort with published NRL reports in the literature.
Authors
- John Grigg (ORCID: https://orcid.org/0000-0002-6763-8119)
- Robyn V. Jamieson (ORCID: https://orcid.org/0000-0002-7285-0253)
- Julie McGaughran (ORCID: https://orcid.org/0000-0002-0926-7858)
- Christopher A. Ovens (ORCID: https://orcid.org/0000-0001-8653-6073)
- Elisa Eleanor Cornish (ORCID: https://orcid.org/0000-0003-3898-8811)
- Benjamin M. Nash (ORCID: https://orcid.org/0000-0003-4235-5144)
- M. Ali Raza (ORCID: https://orcid.org/0009-0001-3858-3921)
Institutions
- The University of Sydney (AU)
- Children's Medical Research Institute (AU)
- The University of Queensland (AU)
- Royal Brisbane and Women's Hospital (AU)
- Children's Hospital at Westmead (AU)
- Sydney Children’s Hospitals Network (AU)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1080/13816810.2025.2559705
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00