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Leber's Congenital Amaurosis Associated With Mitochondrial Dysfunction

Departamento de Pediatria, Servicio de Neuropediatria Hospital General de Galicia, Clinico-Universitario, Santiago de Compostela

Elena Pintos-Martínez, MD

Servicio de Anatomia Patológica Hospital General de Galicia, Clinico-Universitario, Santiago de Compostela

Andrés Beiras-Iglesias, MD

Servicio de Anatomia Patológica Hospital General de Galicia, Clinico-Universitario, Santiago de Compostela

Sagrario Maroto, MD

Servicio de Oftalmologia Hospital General de Galicia, Clínico-Universitario, Santiago de Compostela

Yolanda Campos, MD

Unidad de Investigación Hospital 12 de Octubre, Madrid, Spain

Joaquín Arenas, MD

Unidad de Investigación Hospital 12 de Octubre, Madrid, Spain

Jesús Eirís-Puñal, MD

Departamento de Pediatria, Servicio de Neuropediatria Hospital General de Galicia, Clinico-Universitario, Santiago de Compostela

We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain. (J Child Neurol 1996;11:108-111).

Journal of Child Neurology, Vol. 11, No. 2, 108-111 (1996)
DOI: 10.1177/088307389601100209


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