Lone noncompaction in Leber’s hereditary optic neuropathy

Abstract

The association of Leber’s hereditary optic neuropathy (LHON) and left ventricular non-compaction in the absence of other neurologic or cardiac abnormalities has not been reported. In a 19-year-old man with deteriorating visual acuity, first in the right and two weeks later also in the left eye, LHON was diagnosed, based upon reduced visual acuity, abnormal visually evoked potentials, hyperaemia of the papilla, hyperaemia of the peripapillary capillaries, peripapillary teleangiectasias, congested peripapillary veins, complete central scotoma and spotted partial defects of the remaining visual field. No other ophthalmologic abnormalities were detected. Because of frequent cardiac involvement in LHON a thorough cardiologic investigation was carried out. The cardiovascular history was uneventful. Clinical cardiologic examination and ECG were normal.Transthoracic echocardiography, however, revealed left ventricular noncompaction in the apex and the lateral wall. No other cardiac abnormalities were found. In conclusion, LHON without other neurological abnormalities may be associated with lone left ventricular noncompaction. Patients with LHON should undergo a cardiologic investigation.

Key Words:

• mitochondrial
• respiratory chain
• neuromuscular disorder
• encephalomyopathy
• optic atrophy
• hypertrabeculation