Paula and Bobby
Parents of Lillie
Aland Island Eye Disease
What is Aland Island Eye Disease?
Aland Island Eye Disease is a rare disease. It is also known as Forsius-Eriksson albinism Forsius-eriksson Type Ocular Albinism.
Aland Island Eye Disease may be the same condition or allelic with congenital stationary night blindness type 2 (Weleber et al., 1989). Affected males usually have congenital nystagmus, moderate to high myopia, foveal hypoplasia, reduced acuity and mild defect of red-green colour vision. There is a negative bright-flash ERG response similar to that seen in Duchenne muscular dystrophy and incomplete congenital stationary night blindness. Female carriers may be myopic and have latent nystagmus. However Hawksworth et al., (1995), reported a family in which females, and possibly some affected males, were hypermetropic. Unlike ocular albinism there is no misrouting of the optic nerve fibres in the chiasm.
The condition was mapped to Xp11.22-3 by Alitalo et al., (1991).
* This information is courtesy of the L M D.
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What gene changes cause Aland Island Eye Disease?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
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.
OMIM Number - 300600 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CACNA1F - Xp11.23
What are the main symptoms of Aland Island Eye Disease?
The typical symptoms of the syndrome are:
Myopia, Abnormality of metabolism/homeostasis, Severely reduced visual acuity, X-linked inheritance, Nystagmus, Hypoplasia of the fovea, Giant melanosomes in melanocytes, Albinism, Astigmatism
How does someone get tested for Aland Island Eye Disease?
The initial testing for Aland Island Eye Disease 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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