Associated Papers
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
The Lrat-/- Rat: CRISPR/Cas9 Construction and Phenotyping of a New Animal Model for Retinitis Pigmentosa.
Koster C et al.
International Journal of Molecular Sciences, 2021
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations.
Talib M et al.
Translational Vision Science & Technology, 2019
With expanded carrier screening, founder populations run the risk of being overlooked.
Mathijssen IB et al.
Journal of Community Genetics, 2017
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Littink KW et al.
Ophthalmology, 2012
Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.
Talib M et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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