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Atrofia óptica dominante concomitante y glaucoma juvenil en dos hermanos con una nueva variante de empalme OPA1
Gloria Roberti1, Antonio Calabrese2, Michele Valiante3
1IRCCS - Fondazione Bietti, Rome, Italy. gloria.roberti@fondazionebietti.it.
Documenta ophthalmologica. Advances in ophthalmology
|January 13, 2026
Resumen
El glaucoma juvenil (GJ) puede ser mal diagnosticado. Una nueva variante del gen OPA1 causó atrofia óptica dominante (AOD) en hermanos, lo que resalta la necesidad de considerar la AOD en pacientes con GJ.
Área de la Ciencia:
- Oftalmología
- Genética
- Neurociencia
Sus antecedentes:
- El glaucoma juvenil (GJ) es una causa significativa de pérdida de visión en niños.
- La atrofia óptica dominante (AOD) es una neuropatía óptica progresiva que típicamente se presenta en la edad adulta.
- Los factores genéticos juegan un papel crucial en la etiología de las neuropatías ópticas.
Objetivo del estudio:
- Informar la presentación clínica y los hallazgos genéticos en dos hermanos inicialmente diagnosticados con GJ.
- Identificar la causa genética subyacente de la neuropatía óptica en estos hermanos.
- Investigar la superposición potencial entre GJ y DOA.
Principales métodos:
- Evaluación clínica incluyendo medición de la presión intraocular (PIO), pruebas de campo visual y tomografía de coherencia óptica (OCT).
- Secuenciación del exoma completo (WES) para identificar variantes genéticas.
- Clasificación de las variantes identificadas según las guías ACMG/AMP.
Principales resultados:
- Dos hermanos inicialmente diagnosticados con GJ fueron encontrados con una nueva variante patogénica de empalme OPA1 (NM_130837.3:c.611-2A>T).
- Ambos hermanos exhibieron palidez del nervio óptico, defectos del campo visual y disminución de la visión del color, consistentes con DOA.
- El probando varón presentó con presión intraocular elevada, sugiriendo GJ y DOA concomitantes, mientras que su hermana solo mostró DOA.
Conclusiones:
- Esta serie de casos subraya la importancia de considerar la AOD en el diagnóstico diferencial de las neuropatías ópticas pediátricas, particularmente aquellas inicialmente sospechosas de ser GJ.
- Los hallazgos sugieren una posible patofisiología compartida entre GJ y AOD, posiblemente involucrando disfunción mitocondrial y vulnerabilidad de las células ganglionares de la retina.
- Las pruebas genéticas son cruciales para el diagnóstico preciso y la comprensión del espectro de las neuropatías ópticas.
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