Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report

This case report documents the experience of a 5-year-old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs). She originally presented with visual failure, which rapidly progressed to near total bilateral blindness. Two years later, she developed seizures and cognitive impairment, leading to a diagnosis of NCL7 resulting from a homozygote mutation in the MFSD8 gene. This case underscores the importance of considering NCLs as a potential diagnosis in cases of cone-rod dystrophy and visual loss as the primary clinical feature. It also emphasizes the early onset and initial presentation of retinal degeneration associated with NCL7, before other signs and symptoms manifest, as the second documented case of its kind. Due to the potential for NCL7 to present initially with visual loss before other hallmark signs, it is crucial to consider it among various syndromic and non-syndromic disorders in the differential diagnosis.