In the absence of trauma, dislocated lenses are usually genetically determined, with a frequency of 1 in 5000 of the population worldwide. Since 1990, we have been referred a consecutive series of ectopia lentis patients from several ophthalmological centres in the UK. Gene mutations were identified in those with Marfan syndrome, and they were removed from the study group leaving 48 probands. 9 patients had ADAMTSL4 mutations, leaving a total of 39 patients who have been screened for ADAMTSL6 (no mutation). Recently other genes have been reported to play a role including ADAMTS17, ADAMTS6, ADAMTS18, ADAMTS2, LTBP2 and ADAMTS10. We have screened five of the remaining 39 patients for these above genes and found no mutations. However, the remaining 34 samples need to be studied.
In addition, we have three families with dominantly inherited ectopia lentis and two families with recessively inherited ectopia lentis in whom we have found no genetic mutation. These families are suitable for exome sequencing to detect new causative genes.
All DNA samples are available, and we have ethical consent to proceed. Our laboratory is fully equipped and supervised by a highly experienced post-doctoral research assistant, Dr Jose Aragon-Martin.
This work is important, as it will contribute towards developing a screening panel combining the most important genes, which can be applied at an initial visit to the ophthalmologist of each ectopia lentis patient. Moreover, it would contribute to understanding the basic pathology of dislocated lens. The actual components of the zonular filaments which hold the lens in place are still being identified.