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Article

Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings.

Ophthalmic genetics - 1 Apr 2024

Rabinovich Mark, Zambrowski Olivia, Miere Alexandra, Bhouri Rakia, Souied Eric

Abstract excerpt

AIM: We describe the ophthalmic manifestations of Neuropathy, ataxia, retinitis pigmentosa (NARP) syndrome in three related patients. METHODS: We examined a mother and her two children, who were carriers of the mt 8993T>G mutation. The mother, patient I, is the first known carrier within the family pedigree. Patients II and III are her children from a non-carrier father. NARP syndrome and the heteroplasmy levels...

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Identifiers

PMID: 37671548
DOI: 10.1080/13816810.2023.2253905

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