  Hope for a cure for Leber’ s congenital amaurosis LCA is becoming more and more realistic,  and may not be too far ahead,  at least for some forms of the disease.  Since LCA is a collective name for very different retinal conditions,  treatments will probably need to be disease-
type specific.  The type of LCA is determined by the genetic mutation the patient carries.  It’ s therefore important that THE blood of the patients is analyzed in order to find out which gene is defective.  If you have been diagnosed with LCA,  you should consider giving a blood sample to labs specialized in genetic testing for two reasons:
 1.  If you still haven't been tested for the six LCA genes known so far,  the test will reveal if you do carry one of them.  2.  If the six LCA genes are ruled out in your case,  your blood will be further studied in order to determine the gene responsible for your disorder,
 which will benefit both you and the entire LCA community.  SPECIALIZED LABS LCA is a rare disorder,  and only specialized labs so far are concerned with it.  The number is growing and they are scattered all over the world.  What follows is a link of researchers you may want to contact to have more information.  Some labs may only perform genetic testing of the known genes,
 while others are also carrying out research.  Also,  some may require a fee,  while others may offer it for free.  Please contact them and ask,  or urlLink email me and I will see if I can help.
 Please note that this list is not comprehensive and there may be many other labs involved with LCA that I don’ t know of.  If you know of a lab that I haven’ t mentioned,  or if you find any broken links on this page,  please urlLink contact me .
 Thanks!  Francesca –  Italy,  LCA patient urlLink Dr.  Irene Maumenee Johns Hopkins Center for Hereditary Eye Disease,  Baltimora,
 Maryland,  USA Dr.  Richard A.  Lewis Cullen Eye Institute,  Houston,  Texas,
 USA rlewis@ bcm. tmc. edu Dr.  Josseline Kaplan Hopital des Enfants Malades,  Paris,
 France kaplan@ necker. fr urlLink Dr.  Samuel Jacobson Foundation's Research Center at the Scheie Eye Institute of the University of Pennsylvania,  Philadelphia,  Pennsylvania,
 USA jacobsos@ mail. med. upenn. edu Dr.  Markus Preising Department of Paediatric Ophthalmology,
 Strabismology,  and Ophthalmogenetics,  University of Regensburg,  Germany markus. preising@ klinik.
uni- regensburg. de ( fee required)  urlLink Dr.  Peter Gouras Dept.
 of Ophthalmology,  Columbia University,  New York,  USA pg10@ columbia. edu (
a great researcher and the kindest person)  urlLink Cole Eye Institute -  Research Center The Cleveland Clinic Foundation,  Ohio,  USA ( currently enrolling patients with retinal disorders for genetic research)
 urlLink Dr.  Ed Stone University of Iowa Health Care Carver Laboratory for Molecular Diagnosis Iowa City,  Iowa,  USA ( will screen for the six LCA genes known so far.  Fee required)
 urlLink Dr.  Robert Koenekoop Montreal Children's Hospital Montreal,  Quebec,  Canada Robert. koenekoop@ muhc.
mcgill. ca 
