Clinical diagnosis in the era of DNA testing

Excerpt

An exchange of letters in this issue of Documenta Ophthalmologica highlights the tension which arises as we incorporate the results of genetic testing into the diagnosis of patients on clinical grounds (Finsterer and Zarrouk-Mahjoub, Letter to the Editor, “Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype”, and the Reply by Ozawa et al., authors of the original case report, “Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.” Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI. Doc Ophthalmol. 2019 Jan 30. https://​doi.​org/​10.​1007/​s10633-019-09673-y. [Epub ahead of print]). …