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Optic Nerve hypoplasia

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Most cases of ONH occur sporadically without any other affected family members.

Prenatal diagnosis
ONH is very rarely inherited. Prenatal diagnosis is not available. However, it is possible to image the septum pellucidum, a structure in the brain, antenatally by ultrasound. Absence of this structure may be an indicator of ONH. Obstetricians should be made aware if a previous child has ONH so that this can be checked carefully but absence of the structure does not have to be associated with ONH.

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Medical text written October 2005 by Miss Isabelle Russell-Eggitt FRCS FRCOphth, Consultant Ophthalmic Surgeon, Great Ormond Street Hospital, London, UK.

 

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