Finger prick blood testing in Leber hereditary optic neuropathy

David Mackey, Steve Nasioulas, Susan Forrest

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method using blood spots allows easily accessible screening for LHON mtDNA mutations with minimal biohazard risk and reduced expense in the storage and transport of specimens.

Original languageEnglish
Pages (from-to)311-312
Number of pages2
JournalBritish Journal of Ophthalmology
Issue number5
Publication statusPublished - 1 Jan 1993
Externally publishedYes


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