Leberʼs Hereditary Optic Neuropathy, Normal Tension Glaucoma, and Flammer Syndrome: Long Term Follow-up of a Patient

Background

In our clinic, we observed a patient with the risk constellation of a mitochondrial DNA mutation (G7444A-mutation) combined with Flammer syndrome (FS) [1], [2], [3], who developed a classical phenotype of a Leberʼs hereditary optic neuropathy (LHON) in one eye, subsequently chronic progressive normal tension glaucoma (NTG) in the other eye, and finally, optic nerve compartment syndrome (ONCS) [4] and a marked increase in the retinal venous pressure (RVP) [5] on both sides. This stimulated the discussion of whether these individual clinical and laboratory findings were an accidental concurrence, or whether they were dependent on each other.

Abbreviations

FS: Flammer syndrome

LHON: Leberʼs hereditary optic neuropathy

NTG: normal tension glaucoma

ONCS: optic nerve compartment syndrome

ONH: optic nerve head

PVD: primary vascular dysregulation

RVP: retinal venous pressure

• References

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