Abstract

SANCHEZ-TOCINO, H.; DE-ANDRES-SANTOS, A.; PASCUAL-GONZALEZ, P.  and  SANCHIDRIAN-MAYO, M.. The use of optical coherence tomography in hereditary optic neuropathies: Description of a family. Arch Soc Esp Oftalmol [online]. 2008, vol.83, n.1, pp.57-62. ISSN 0365-6691.

Case report: This report describes two siblings, a woman aged 44 years and her brother aged 29 years, who both complained of visual loss in both eyes. The woman had bilateral optic nerve (ON) temporal pallor and severe reduction of ON fibre layer thickness in this area. Both she and her brother had cecocentral defects in perimetry and color vision deficiency with a marked tritanopia deficit. Discussion: ON pallor, limited to the temporal region, is the basic criterion for the diagnosis of dominant optic atrophy. Optical coherence tomography can be a useful technique in defining the diagnosis and improving the follow-up of patients with this pathology.

Keywords : Optical coherence tomography; dominant optic atrophy; hereditary optic atrophy; temporal disk pallor; Kjers’s disease.

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