Bilateral spontaneous corneal perforation associated with complete ophthalmoplegia in mitochondrial myopathy (Kearns-Sayre-syndrome)
K. Schmitz, H. Lins
Mutations of mitochondrial DNA can be the cause of a variety of pheno- and genotypically heterogeneous diseases. Tissues with a high energy demand (skeletal muscle, CNS, eye, ear) are preferably affected by the disturbance in energy supply resulting from enzymatic defects of the respiratory chain. Kearns-Sayre-syndrome is caused by the deletion of several mitochondrial genes. The syndrome is characterized by chronically progressive external ophthalmoplegia, tapetoretinal degeneration and cardiomyopathy.
Case report: We report on a 36-year old female patient with biochemically and genetically confirmed Kearns-Sayre-syndrome. Over a period of 10 years, progressive ophthalmoplegia had led to recurrent conjunctivitis, keratitis and corneal ulceration. On our first examination, we observed almost complete external ophthalmoplegia including the orbicularis muscle. Despite advanced ptosis, there was a lagophthalmus of 2 mm with nearly extinguished motility of the globe. The left eye demonstrated a peripheral corneal perforation parallel to the lower limbus. At the corresponding site of the right eye, the corneal surface was irregularly disturbed. After successful penetrating keratoplasty in the left eye, peripheral perforation also occurred in the right eye despite enforced prophylactic actions. The second eye was also treated with penetrating keratoplasty. To achieve functionally sufficient results, large transplant diameters were necessary in both eyes (left 9.5 mm, right 10.5 mm). For prophylaxis of postoperative immune reactions, Ciclosporin therapy was initiated. 3 and 9 months after penetrating keratoplasty respectively, corrected visual acuity was 0.3 in the right and 0.2 in the left eye with clear transplants on both sides.
Discussion: Patients with progressive ophthalmoplegia require thorough neurological exploration. Lagophthalmus in the presence of almost absent active globe motility require extensive prophylactic actions to prevent expositional keratitis. In the presented case, corneal perforation of the second eye could not be prevented despite such prophylactic measures.
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