Documenta Ophthalmologica 1992, Volume 82, Issue 1-2, pp 73-79 Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Dr H. J. Simonsz, K. Bärlocher, A. Rötig … show all 3 hide » Download PDF (2,322 KB) Abstract A 7-year-old boy presented with bilateral ptosis and atypical retinitis pigmentosa. Before age two, he had had an Fe-refractory anemia, with neutropenia and thrombopenia. Just prior to the ophthalmic examination, the patient developed lactate acidosis, muscular hypotonia, ataxia and increased protein in the spinal fluid. Pancytopenia, pancreas dysfunction and growth retardation are the main features of Pearson's syndrome, most children not surviving beyond age three. The cause of Pearson's syndrome in our patient turned out to be a 5 kb deletion in the mitchondrial DNA. Similar deletions have been described in the Kearns-Sayre syndrome. It seems that children who survive the initial phase of Pearson's syndrome, may develop Kearns-Sayre syndrome.

Kearns-Sayre's syndrome, ophthalmology
dx.doi.org/10.1007/BF00156996, hdl.handle.net/1765/40354
Documenta Ophthalmologica
Department of Ophthalmology

Simonsz, H.J, Bärlocher, K.E, & Rötig , A. (1992). Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion . Documenta Ophthalmologica, 82(1-2), 73–79. doi:10.1007/BF00156996