Two Cases of Cortical Blindness and Optic Nerve Pathology in Paediatric Patients Caused by Rare Mutations in SCN8A and N2RF1 Genes

  • Sandra Ose (Speaker)
  • Sandra Valeiņa (Co-author)
  • Māris Vīksniņš (Co-author)
  • Baiba Lāce (Co-author)

Activity: Talk or presentation types › Poster presentation

Description

Our goal is to present two pediatric patient cases with cortical blindness and optic nerve pathology due to rare cause of mutations in SCN8A and N2RF1 genes. Both patients were consulted and treated in Children’s Clinical University Hospital of Latvia ophthalmology, neurology and genetics departments, for visual impairment and neurocognitive developmental delay. Female patient, currently 25 years old, with heterozygote mutation in gene N2RF1 c.328_330del, p. (Phe110del) is fully diagnosed with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (ORPHA: 401777, OMIM: 615722) in year 2022, first presented at 4 months of age in 1997 with severe neuromotor and cognitive deficit (epilepsy, autism, hyperactivity, oromotor dysfunction, corpus callosum hypotrophy), as well as non-progressive optic atrophy and cortical blindness. MRI-optic nerve atrophy, corpus callosum hypotrophy, visual acuity Cardiff 20/230, nystagmus. Fundus-optic nerve atrophy. With an estimated prevalence between 1 in 100,000 to 250,000 people worldwide, BBSOAS has been so far diagnosed in about 100 patients.  N2RF1 gene is in DNS’s highly conserved region, that is responsible for transcription, involved in neurogenesis, neural differentiation, eye and optic nerve development and cortical patterning, thalamocortical pattern axon guidance, arborisation and hippocampal volume and function organization Male patient, currently 3 years old, with heterozygote frameshift mutation in gene SCN8A c.197_1990del, p. (His658Cysfs*19) diagnosed with Autosomal dominant cognitive impairment with or without cerebellar ataxia (OMIM: 614306), presented at the age of 1 year 6 months with optic nerve hypoplasia, strabismus, cortical visual impairment, neurocognitive developmental delay (speech impairment) and ataxia. MRI-optic nerve hypoplasia/atrophy. Visual acuity Cardiff 20/80, strabismus, fundus-optic nerve hypoplasia. SCN8A gene is responsible for initial membrane depolarization that occurs during generation of action potentials in most electrically excitable cells Both patients firstly presented with severe neurological deficit that overshadowed strong ophtalmic genetic component presence.  . .. .. .
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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