Case studies
| Case studies |
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| Written by Administrator |
| Monday, 15 September 2008 21:01 |
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Case study: Leber's congenital amaurosis Leber’s congenital amaurosis (LCA) is a rare form of inherited blindness. Not only do visual problems begin at birth but they are often very severe. In the UK, the condition accounts for around 5% of inherited problems affecting the back of the eye but in families from Northern Pakistan it accounts for almost 40% of all inherited blindness. Researchers from Leeds have particular interest and expertise in the genetics of LCA and have visited 22 families with 91 affected individuals in Punjab and Kashmir. Of the 13 genes currently known to cause LCA when faulty, 2 were discovered by the Leeds team as part of a project supported by Yorkshire Eye Research. Three families from Lahore, Sargodha and Islamabad were found to have faults in a new gene called Lebercilin. Another family from Sargodha was the first in the world to be linked to a gene called LCA9. Mohamed is 25 and, despite being blind from birth, he is a graduate in English Literature from Lahore. He enjoys playing in the blind cricket teams locally but can only tell when a light is shining in front of him. He has two affected brothers and his normally sighted sister has two affected children. Research done in Yorkshire has confirmed the way in which the condition is inherited and helped Mohammed’s family understand the ways in which the risk to future generations can be reduced. Sana and Saba are eight year old twins. They were diagnosed to have LCA by the team in Leeds. They are both blind and can see no more than the outline of a hand moving in front of their faces. Their parents have normal vision but have three blind children and three sighted children. Other cousins are also affected. As with individuals from two other families in Lahore, Gujranwala and Mianwali, they were found to have faults in a gene called RPGRIP. These faults cause LCA. On the basis of the work funded by Yorkshire Eye Research, their family is beginning to understand why they and other family members are blind. However, they also have some hope as gene therapy trials for LCA are now underway. The aim of these trials is to restore some sight by replacing the faulty eye gene with a healthy gene. Although the first trial involved a different gene known to cause LCA, it is likely that subsequent trials will involve individuals with faults in the RPGRIP gene. To continue supporting this work with the local community and from Pakistan, Yorkshire Eye Research needs your help. Case study: Retinitis pigmentosa CC has Retinitis Pigmentosa (RP), a genetic condition that causes parts of the retina to fail. The underlying problem can lie in many parts of the retina such as the rod or cone cells, or in the connections between cells. There is no cure for RP. Researchers have made headway into identifying the defective genes but more work is needed if we are to find a cure or effective treatment for this blinding condition.  Retinitis pigmentosa - image of the retina with typical changes found in RP. This is her story…
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| Last Updated on Monday, 09 January 2012 17:07 |
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