Grateful to present data related to Natural history and genotype-phenotype correlation of patients with IQCB1 retinopathy (#NPHP5retinopathy) with or without #SeniorLokensyndrome at #ARVO2024 @ARVOinfo https://t.co/4VZpZghDpp

👉#NPHP5retinopathy can happen in isolation as an attenuated phenotype. 👉In this cohort study of 19 patients, we describe the #naturalhistory and genotype-phenotype correlation of NPHP5 retinopathy. 🌹Read our #fulltext for this #raredisease here - https://t.co/G3bWUSK38Q

🙏Few important links related to #NPHP5retinopathy: 1. Canine #diseasemodel and proof-of-concept of #genetherapy for NPHP5 retinopathy - https://t.co/jV6s4RJt21 2. Retinal #organoid based #diseasemodel and #genetherapy approach for NPHP5 retinopathy -