An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa

Klin Monbl Augenheilkd. 2024 Mar;241(3):266-271. doi: 10.1055/a-2264-5480. Epub 2024 Mar 20.

Authors

David Adrian Merle^{1

2

3}, Susanne Kohl², Milda Reith¹, Karin Schäferhoff², Theresia Zuleger², Lara Stühn², Krunoslav Stingl^{1

4}, Melanie Kempf^{1

4}, Laura Kühlewein^{1

2}, Ute Grasshoff², Katarina Stingl^{1

4}

Affiliations

¹ Department of Ophthalmology, University Eye Hospital Tübingen, Germany.
² Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Germany.
³ Department of Ophthalmology, Medical University of Graz, Austria.
⁴ Center for Rare Eye Diseases, Eberhard Karls University of Tübingen, Germany.

PMID: 38508215
DOI: 10.1055/a-2264-5480

No abstract available

MeSH terms

Eye Proteins / genetics
Genes, Recessive / genetics
Humans
Mutation
Pedigree
Phenotype
Retinitis Pigmentosa* / diagnosis
Retinitis Pigmentosa* / genetics

Substances

Eye Proteins