🧬 New study: #CERKL-associated #retinaldegeneration in Portugal 🇵🇹
🧑‍⚕️21 families w/cone-rod dystrophy, #RP-like
📌Early macular atrophy
🔍 4 novel mutations
⚠️Severe, early disease—even w/o consanguinity

🔗Link here: www.sciencedirect.com/science/arti...
#AJOInternational #InheritedRetinalDisorder #CERKL