Research from Eye Research Center Has Provided New Data on Neuronal Ceroid Lipofuscinoses (Cone-Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report).

Research from the Eye Research Center has provided new data on Neuronal Ceroid Lipofuscinoses, specifically focusing on a case report of a 5-year-old girl who initially presented with retinal degeneration as the first symptom of NCL7. The girl rapidly progressed to near total bilateral blindness, followed by seizures and cognitive impairment, leading to a diagnosis of NCL7 due to a mutation in the MFSD8 gene. This case highlights the importance of considering NCLs as a potential diagnosis in cases of cone-rod dystrophy and visual loss, emphasizing the early onset of retinal degeneration associated with NCL7. [Extracted from the article]