Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F...

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C>A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap.