Hiperornitinemia con atrofia gyrata de coroides y retina / Hyperornithinemia with gyrate atrophy of the choroid and retina

La atrofia gyrata de coroides y retina fue descrita por vez primera por Fuchs en el año 1896 como una entidad clínicamente definida. La deficiencia de la enzima ornitina delta aminotransferasa se hereda de forma autosómica recesiva; resulta en incremento plasmático de las concentraciones de ornitina y se asocia con atrofia gyrata de coroides y retina. Se presenta una paciente de 6 años de edad que es llevada a consulta, ya que en la escuela la maestra notaba mala visión de lejos. En un examen inicial del fondo de ojo el oftalmólogo observó cambios sugestivos de distrofia retiniana. En la oftalmoscopia binocular indirecta se encontraron extensas zonas confluentes de atrofia coroidea por fuera de las arcadas vasculares que respetaban el polo posterior; la mácula impresionaba normal. Se realizó un estudio de tomografía de coherencia óptica en dominio espectral en tomógrafo Spectralis que demostró la presencia de edema macular cistoide en ambos ojos. La determinación de niveles de ornitina en sangre arrojaron niveles muy elevados de este aminoácido (975 µmol/mL). Con todos estos hallazgos se llegó al diagnóstico de hiperornitinemia y atrofia gyrata de coroides y retina. Se indicó tratamiento dietético y vitamina B6 oral a pesar de que no se ha obtenido hasta el momento reducción significativa de los niveles de ornitina en plasma(AU)

Gyrate atrophy of the choroid and the retina was first described by Fuchs as a clinically defined condition in 1896. Human hereditary deficiency of ornithine aminotransferase activity is transmitted as an autosomal recessive trait and results in increased level of plasma ornithine and is associated with gyrate atrophy of the choroid and the retina. A 6-year-old girl was taken to the ophthalmologist's because of her far poor vision detected by her teacher at the school. In the initial eye fundus examination the ophthalmologist observed some changes indicating retinal dystrophy. The indirect binocular funduscopy revealed extensive areas of choroidal atrophy outside the vascular archades respected the posterior pole whereas the macula impressed as normal. Cystoid macular edema was evident in both eyes according to the results of the optic coherence tomography performed with Spectralis tomograph. The aminoacid analysis revealed high serum ornithine level (975 µmol/mL). The clinical diagnosis of the patient was consistent with hyper-ornithinemia and gyrate atrophy of the choroid and the retina. She was treated with vitamin B6 and dietary supplementation but no significant reduction on her serum ornithine level was observed(AU)

Hiperornitinemia con atrofia gyrata de coroides y retina / Hyperornithinemia with gyrate atrophy of the choroid and retina

La atrofia gyrata de coroides y retina fue descrita por vez primera por Fuchs en el año 1896 como una entidad clínicamente definida. La deficiencia de la enzima ornitina delta aminotransferasa se hereda de forma autosómica recesiva; resulta en incremento plasmático de las concentraciones de ornitina y se asocia con atrofia gyrata de coroides y retina. Se presenta una paciente de 6 años de edad que es llevada a consulta, ya que en la escuela la maestra notaba mala visión de lejos. En un examen inicial del fondo de ojo el oftalmólogo observó cambios sugestivos de distrofia retiniana. En la oftalmoscopia binocular indirecta se encontraron extensas zonas confluentes de atrofia coroidea por fuera de las arcadas vasculares que respetaban el polo posterior; la mácula impresionaba normal. Se realizó un estudio de tomografía de coherencia óptica en dominio espectral en tomógrafo Spectralis que demostró la presencia de edema macular cistoide en ambos ojos. La determinación de niveles de ornitina en sangre arrojaron niveles muy elevados de este aminoácido (975 µmol/mL). Con todos estos hallazgos se llegó al diagnóstico de hiperornitinemia y atrofia gyrata de coroides y retina. Se indicó tratamiento dietético y vitamina B6 oral a pesar de que no se ha obtenido hasta el momento reducción significativa de los niveles de ornitina en plasma(AU)

Gyrate atrophy of the choroid and the retina was first described by Fuchs as a clinically defined condition in 1896. Human hereditary deficiency of ornithine aminotransferase activity is transmitted as an autosomal recessive trait and results in increased level of plasma ornithine and is associated with gyrate atrophy of the choroid and the retina. A 6-year-old girl was taken to the ophthalmologist’s because of her far poor vision detected by her teacher at the school. In the initial eye fundus examination the ophthalmologist observed some changes indicating retinal dystrophy. The indirect binocular funduscopy revealed extensive areas of choroidal atrophy outside the vascular archades respected the posterior pole whereas the macula impressed as normal. Cystoid macular edema was evident in both eyes according to the results of the optic coherence tomography performed with Spectralis tomograph. The aminoacid analysis revealed high serum ornithine level (975 µmol/mL). The clinical diagnosis of the patient was consistent with hyper-ornithinemia and gyrate atrophy of the choroid and the retina. She was treated with vitamin B6 and dietary supplementation but no significant reduction on her serum ornithine level was observed(AU)

Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation.

PURPOSE: To analyze the importance f optical coherence tomography (OCT) to diagnose the cystoid macular edema in a case of gyrate atrophy. DESIGN: Observational case report. METHODS: A 12-year-old boy presenting with gyrate atrophy of the choroid and retina underwent ophthalmologic, clinical, and laboratory tests. RESULTS: Plasma ornithine level was 735 mumol/l. Fluorescein angiography showed bilateral hyperfluorescence involving the central region of the macula. Optical coherence tomography (OCT) disclosed bilateral intraretinal cysts areas of low reflectivity with occasional high-signal elements bridging the retinal layers and intraretinal thickening. CONCLUSIONS: Both fluorescein angiography and OCT were helpful to confirm the diagnosis of macular involvement as a complication of gyrate atrophy of the choroid and retina in a patient who presented without any clinical evidence of cystoid macular edema, except a decrease in visual acuity.