Abstract
A 12-year-old boy presented with painless and progressive vision loss, peripheral visual field constriction, and nyctalopia for 5 years. He had a history of mild cognitive impairment, learning disability and hyperactivity, mild microcephaly, flattening of his skull, prominent front teeth, and cafe-au-lait macules. There was a perinatal history of testicular edema at birth that spontaneously resolved after 6 months. There was no family history of visual or neurological illness.
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Kostic, M., Mendoza-Santiesteban, C. (2023). KIFF11 Mutation: A Boy with Painless, Progressive Vision Loss, and Nyctalopia. In: Heidary, G., Phillips, P.H. (eds) Fundamentals of Pediatric Neuro-Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-031-16147-6_49
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DOI: https://doi.org/10.1007/978-3-031-16147-6_49
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