Paula and Bobby
Parents of Lillie
What is Achiasmic syndrome?
Achiasmic syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Apkarian et al., (1995), have reported two unrelated children with congenital nystagmus (classic, congenital in the horizontal plane with superimposed see-saw), moderately reduced visual acuity, full visual fields and an uncrossed VEP asymmetry. On MRI scan the optic nerves did not form a chiasm. No other CNS anomalies were identifed and intellect was well preserved. Leitch et al., (1996), reported a child with an encephalocele prolapsing down between the two non-crossing optic nerves. A similar ocular phenotype is seen in a group of Belgian black sheepdogs (Dell'Osso 1996). The case reported by Waheed et al., (2002) had in addition polymicrogyria (unilateral) in the perisylvian region.
Five patients with chiasmal hypoplasia or aplasia were reported by Thompson et al., (1999). Monocular flash VEPs showed crossed asymmetry in scalp distribution, indicating a compromised chiasmal crossing. The diagnosis was confirmed on MRI. Two patients had hypoplastic optic nerves (one had De Morsier syndrome) , one had the morning glory disc, one was normal and one had a pigmented ring around the disc. Four of the 5 were developmentally delayed. The authors discuss the possibility of PAX2 mutations.
Nine further children were reported by Sami et al., (2005). Three had in addition a skull base encephalocele and in 2 it was associated with septo-optic dysplasia. One child had Asperger syndrome and one had subclinical seizures. Pomeranz et al., (2006) reported cases of achiasmia and hypoplastic optic nerves, as did Sanjari et al., (2006). Note the case reported by Pensiero et al., (2011) with in addition oesophageal atresia.
* This information is courtesy of the L M D.
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What gene changes cause Achiasmic syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Sporadic - In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Achiasmic syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for Achiasmic syndrome?
The initial testing for Achiasmic syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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