Understanding Genetic Eye Disorders


Having a baby is an exciting time for many couples. As you prepare for the coming of your new baby, there are a number of aspects of antenatal care to consider. For some couples, today, the genetic testing during pregnancy can provide a look towards the future health of your child and prepare both you, and your pediatrician, for any potential complications associated with genetic disorders.

In several previous studies, researchers investigated the genetic basis for CCT by comparing the corneal thickness of individuals with their genetic fingerprints. This revealed 11 genetic variations linked to CCT, but with different levels of certainty; the new study solidified these findings and uncovered further associated genetic variations.

Khor and co-workers achieved this by collecting and re-analyzing the data from 13 previous studies as a whole. They identified a total of 27 genetic variations that are strongly linked to CCT; 16 of these had previously eluded detection. Furthermore, the researchers found that six of these variations indicated a risk of developing keratoconus, with either of the six also linked to POAG.

The new study identified a greater number of genetic variations associated with eye disease than previous ones because it included data from over 20, 000 individuals. '[ Our study ] is three to four times the size of previous studies, and it combines data from Asians and Europeans for the first time,' explains Khor. ' As such, the results are correspondingly rich in depth. '

One such genetic disorder, known as Cockayne syndrome, is rarely diagnosed prior to the emergence of an infant. As a recessive genetic condition, a child born with Cockayne syndrome, often, won't exhibit complications of the disorder prior to the second year of life, leaving many parents confused as to what the complication really is. In over 65 per cent of cases, the children affected are male.

In Cockayne syndrome, a child will start to experience physical complications at around 18 months of age. It is at this time, the pediatrician may notice the child is starting to slow in growth and development with signs of dwarfing in some areas. To diagnose the condition, your child's pediatrician may recommend genetic testing with specific examination of chromosome 5 and 10 as these tend to become the most common genetic defects in this rare disorder.

Once your child is confirmed as having Cockayne syndrome, you'll want to be ready for the anticipated complications. Because dwarfism is common, your child's arms and legs may grow extensively long and the hands and feet will appear large, with many children ultimately becoming immobile.

In addition to complications of the castanets and joints, children with Cockayne syndrome will also experience complications associated with eye health, most notably with complications involving detached retinas and cataracts with some children experiencing premature blindness. Hearing complications are also quite common.

Children who're diagnosed with Cockayne syndrome will also experience a shortened life span, as with many complicated and rare genetic disorders. While the condition is rare, research and statistics show that no child has lived beyond the minimum age of 30 with many dying in late childhood from respiratory complications.

Expecting a baby is a time that many parents are eagerly looking forward to. These same couples are using genetic testing as a form in which to diagnose and prepare for the genetic complications of their infant with the advances in medical technology. While Cockayne syndrome is rare, it has been linked to possible defects on chromosome 5 and 10. Because the condition is often delayed in development, rare in occurrence, as part of your prenatal genetic counseling, request information on defects to these chromosomes as a piece of your overall genetic counseling session.

05/17/2015 15:57:09
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