Abstract

SA.15.08

Ophthalmological manifestations of the mitochondrial mutation A3243G

Michael Engelbert1, Kirstin Engelstad2, Daryl C. DeVivo2, Steven Kane1
1Columbia University, Edward S. Harkness Eye Institute, New York, USA, 2Columbia University, The Neurological Institute, New York, USA

Objective
The mitochondrial mutation A3243G, which causes a spectrum of clinical syndromes ranging from MELAS (mitochondrial encephalopathy and stroke-like episodes) to MIDD (maternally inherited diabetes and deafness) is frequently associated with a peculiar pigmentary maculopathy which has been extensively described in recent reports. The purpose of this study was to characterize other ophthalmological manifestations.
Methods
28 patients with the mitochondrial mutation A3243G were referred from the Neurological Institute for a comprehensive ophthalmological exam.
Results
19 patients had vision ≥20/30. Another 5 patients had vision < 20/30, but > 20/150 in the worse eye. 2 patients were legally blind, and another 2 patients could not cooperate with Snellen acuity testing due to advanced neurological disease. 16 patients had normal or near normal color vision (≥5/6 HRR plates in the worse eye), 6 patients had more marked impairment in color perception, and 6 patients were unable to cooperate. 18 patients had full visual fields to confrontation, 7 patients had some type of field restriction, and 3 patients were unable to cooperate. 22 patients demonstrated abnormal saccades, and 15 patients had abnormal ductions. 6 patients displayed abnormal pursuit and 7 abnormal optokinetic reflex. Despite these findings, ocular alignment was normal in all but 4 patients. 10 patients had ptosis. Anterior exams were almost always normal, but 8 patients had optic atrophy, and 12 pigmentary abnormalities of the macula.
Conclusions
The most prevalent abnormalities of the visual system in patients with the A3243G mutation, which can cause the MIDD and MELAS syndromes, are disturbances of ocular motility, as well as optic atrophy and macular pigmentary changes. Interestingly, acuity, color perception and visual field were relatively unaffected in the majority of patients who were referred from a neurological, rather than an ophthalmological practice.

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