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Acrobatopsia relacionada con CNGA3: Seguimiento a 10 años

Haaris M Khan¹, Fernando A G Sumita^1,2, Rony Carlos Preti²

¹Department of Ophthalmology and Vision Sciences, University of British Columbia, Vancouver, BC, Canada.

Journal of vitreoretinal diseases

|February 2, 2026

Resumen

La acromatopsia relacionada con CNGA3 muestra cambios retinianos progresivos en tomografía de coherencia óptica de dominio de barrido (SD-OCT) durante 10 años, incluso con visión estable. Esto resalta la SD-OCT

Área de la Ciencia:

Oftalmología
Genética
Imagenología Retiniana

Sus antecedentes:

La acromatopsia relacionada con CNGA3 es un trastorno genético de la retina.
Tradicionalmente se considera una afección estacionaria.
Los cambios estructurales a largo plazo no están bien documentados.

Objetivo del estudio:

Documentar los cambios estructurales retinianos a largo plazo en la acromatopsia relacionada con CNGA3.
Utilizar la tomografía de coherencia óptica de dominio de barrido (SD-OCT) durante una década.
Correlacionar los hallazgos de imagen con la agudeza visual.

Principales métodos:

Estudio de caso único de una mujer de 16 años con mutaciones confirmadas de CNGA3.
Imágenes anuales de SD-OCT y evaluación de la agudeza visual mejor corregida (AV) durante 10 años.
Análisis de los cambios estructurales de la fóvea y las características de la OCT.

Principales resultados:

La AV se mantuvo estable durante el seguimiento de 10 años.
Se observó un deterioro estructural progresivo de la fóvea en la SD-OCT.
Los hallazgos clave incluyen hiperreflectividad de la ELM, disrupción de la EZ, espacios ópticamente vacíos, hipertransmisión coroidea y focos hiperreflectantes.

Conclusiones:

La acromatopsia relacionada con CNGA3 demuestra progresión estructural en la SD-OCT a pesar de la AV estable.
La SD-OCT es crucial para detectar la degeneración foveal sutil en esta afección.
Los focos hiperreflectantes pueden indicar un compromiso temprano de los fotorreceptores o la RPE, lo que apoya los sistemas de estadificación basados en OCT.

Palabras clave:

acromatopsia progresión de la enfermedad focos hiperreflectantes

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