Leber hereditary optic neuropathy (LHON) Community

Meet, discuss & support other patients or families living with Leber hereditary optic neuropathy (LHON). Contribute to topics, or just share what's on your mind

changes of diagnosis

About 4 months ago my 14 year old son started losing his sight, all doctors thought it was a muscular dystrophy or atrophy of the young. We went to IMO to get genetic testing, however, when they examined him they doubted the diagnosis due to the aggressive deterioration he was experiencing. At that particular moment he could only see 0.2 so they thought it might have been a neurological problem. He soon lost his sight completely, neurologists associated it to Leber's disease. We are waiting genetic results. We all find it really strange as there are no other cases in the family. We are waiting but it's scary not to find a clear diagnosis and so we don't know what to expect.

ASANOL
moderator

Hi. First of all, genetic testing is key to diagnosing LHON. If there is any of the mutations as well as optical nerve atrophy it's clear. In this case he should consider the possibility of taking part in a clinical trial. Right now there is an open one with some prerequisites. I recommend you contact ASANOL, which have their number on their website (647919581) or email them here asociacionasanol@gmail.com . It's the quickest way. Thanks!

martacampabadal
moderator

Bienvenida a la comunidad de LHON MariCarmen!

Contactaste con ASANOL?

Esperamos que encuentres algunas respuestas en esta comunidad.

Saludos!

hola, si ya contacte con ASANOL las pruebas geneticas aun se las hacen mañana, y ahora solo queda esperar resultados.
Saludos¡

lissapoincenot
moderator

Have you gotten the genetic results back yet? If it's LHON, do you know which mutation?

martacampabadal
moderator

Hola mayca,

Como fueron las pruebas? Tenéis los resultados?

Saludos!
Marta