[The use of optical coherence tomography in hereditary optic neuropathies: description of a family]. / Utilización de la tomografía óptica de coherencia en neuropatías ópticas hereditarias. Descripción de una familia.

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.

Utilización de la tomografía óptica de coherencia en neuropatías ópticas hereditarias. Descripción de una familia / The use of optical coherence tomography in hereditary optic neuropathies: description of a family

Caso clínico: Se presenta una mujer de 44 años y su hermano de 29 años con mala agudeza visual en ambos ojos. Presentan ambos una palidez temporal en el nervio óptico (NO) bilateralmente, con una severa disminución de fibras del NO en esta área, déficit centrocecal en el campo visual y una alteración de los colores en forma de tritanopia. Discusión: La palidez del NO que afecta a la región temporal es un criterio básico en el diagnóstico de atrofia óptica dominante. La Tomografía Óptica de coherencia se presenta como una técnica útil en el diagnóstico y posterior seguimiento de esta patología

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