Article
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Investigative ophthalmology & visual science - 1 Jul 2025
Daich Varela Malena, Romo-Aguas Juan Carlos, Guarascio Rosellina, Ziaka Kalliopi, Aguila Monica, Hau Kwan-Leong, Li Yumei, Chen Rui, Kalitzeos Angelos, Robson Anthony G, Baker Rebecca A, Mahroo Omar A, Webster Andrew R, Chan Henry, Lubock Nathan B, Albert Matthew L, Cheetham Michael E, Michaelides Michel
Abstract excerpt
Purpose: The purpose of this study was to describe the largest cohort of RHO-associated retinitis pigmentosa (RP) to date, analyzing the spectrum of phenotypes, variants, disease natural history, and genotype-phenotype correlations. Methods: Variants were classified using functional assays, animal models, and published data. Clinical assessments involved visual acuity (LogMAR), dilated fundus examinations,...
Topics
- Retinitis Pigmentosa
- Humans
- Male
- Phenotype
- Female
- Tomography, Optical Coherence
- Disease Models, Animal
- Visual Acuity
- Animals