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Clinical

Clinical research on patients with infantile nystagmus syndrome (INS), across several inherited ocular diseases, may provide significant support for counselling and on-going clinical trials.   

Clinical researchers at the Department of Ophthalmology and the Vision Centre of Excellence, Akron Children’s Hospital, Ohio, have reported a molecular diagnostic rate of 41.5%… Read More »Clinical research on patients with infantile nystagmus syndrome (INS), across several inherited ocular diseases, may provide significant support for counselling and on-going clinical trials.   

Natural history of PCARE-associated retinopathy highlights genetics, clinical characteristics and time-to-event curves for development of atrophy. 

Clinical researchers at the Sorbonne Université, INSERM, CNRS, Institut de la Vision and  the Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, Paris, have reported PCARE-associated retinopathy… Read More »Natural history of PCARE-associated retinopathy highlights genetics, clinical characteristics and time-to-event curves for development of atrophy. 

New “CONSORT 2025 statement” has announced an expanded checklist to optimally conduct high-quality research on randomised trials. 

A consortium of clinical researchers and trial experts have launched a new updated statement published by 39 researchers*, led by Professor Sally Hopewell, based in… Read More »New “CONSORT 2025 statement” has announced an expanded checklist to optimally conduct high-quality research on randomised trials. 

Clinical analysis of phenotypic and genotypic characteristics on retinitis pigmentosa-1-like-1 (RP1L1) show associated retinopathy. 

Clinical researchers at the Sorbonne Université, INSERM, Institut de la Vision, Paris, have reported multiple pathogenic variants in the RP1L1 gene, associated with autosomal dominant,… Read More »Clinical analysis of phenotypic and genotypic characteristics on retinitis pigmentosa-1-like-1 (RP1L1) show associated retinopathy. 

Clinical distinctions between EYS- and USH2A-associated Retinitis Pigmentosa (RP) provides important implications for diagnosis, counselling and clinical practice.

Researchers based at the Singapore National Eye Centre, and the Ophthalmology and Visual Sciences, Duke-NUS Graduate Medical School, Singapore, have published a report showing clear… Read More »Clinical distinctions between EYS- and USH2A-associated Retinitis Pigmentosa (RP) provides important implications for diagnosis, counselling and clinical practice.

Foundation Fighting Blindness (FFB) have presented genetic data on IRDs for almost 34,000 patients and families within international sites.

A collaboration of 41 international clinical centres that manage patients affected with inherited retinal diseases (IRDs), supported by the US Foundation Fighting Blindness (FFB), have… Read More »Foundation Fighting Blindness (FFB) have presented genetic data on IRDs for almost 34,000 patients and families within international sites.

Real-world impacts of an observational study on X-linked retinitis pigmentosa (XLRP) patients’ experience, supported by the ERN-EYE Network.

Researchers at the Department of Translational Medicine, University of Ferrara, Italy, and colleagues in the ERN-EYE Network, have published paper on the first study to… Read More »Real-world impacts of an observational study on X-linked retinitis pigmentosa (XLRP) patients’ experience, supported by the ERN-EYE Network.