Leber Congenital Amaurosis – LCA
Leber Congenital Amaurosis (LCA) is an early-onset and severe retinal dystrophy which is responsible for congenital blindness. It is diagnosed by a severely reduced or absent electroretinogram (ERG) before age 1. Shortly after birth, patients usually present with poor fixation, nystagmus, photophobia, and amaurotic pupils. Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE). LCA is mostly inherited as an autosomal recessive disorder.
Simultaneous screening of all known LCA-associated variants in large LCA cohorts allows for systematic detection and analysis of genetic variation, facilitating prospective diagnosis and ultimately predicting disease progression.
Genetic testing also provides genetic counseling for the family with the possibility of prenatal diagnosis. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
The genetic test was developed in cooperation with Prof. Dr. Rando Allikmets from Columbia University (USA).
ORDERING
Leber Congenital Amaurosis – more info.
For further information:
Zernant J, Kulm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
Invest Ophthalmol Vis Sci. 2005 Sep; 46(9): 3052-9.
Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Martinez Ciriano JP, de Faber JTHN, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, and Cremers FPM
Vis Sci. 2006; 47: 1167–1176) DOI: 10.1167/iovs.05-0848.
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