Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.
نویسندگان
چکیده
Mitochondrial disorders can cause an array of neuroophthalmologic manifestations such as ptosis, external ophthalmoparesis, nystagmus, pigmentary retinopathy, and optic neuropathy.1 The m.3243A G point mutation in the mitochondrial genome, an alanine-toguanine transition at position 3243 of mitochondrial DNA, in the MT-TL1 gene that encodes the tRNALeu (UUR), commonly presents as an encephalopathy accompanied by lactic acidosis and stroke-like episodes (MELAS). Many mutation carriers, however, have a wide range of neurologic, cardiac, endocrine, gastrointestinal, and psychiatric symptoms, as well as other mitochondrial syndromes.2 Another syndrome also associated with this mutation is maternally inherited diabetes and deafness (MIDD).3 Ptosis and ophthalmoparesis are not generally seen in MIDD,4 with only 1 report of 2 patients with ptosis in this condition.5 We present another patient with ptosis associated with MIDD and the m.3243A G mutation, in whom the key diagnostic feature was the macular pattern dystrophy typical of MIDD.
منابع مشابه
4121 Macular retinal dystrophy, deafness and diabetes mellitus, associated with a mutation of mitochondrial DNA (tRNA leu(3243)
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ورودعنوان ژورنال:
- Neurology
دوره 79 6 شماره
صفحات -
تاریخ انتشار 2012