The retinal lesions were consistent with focally extensive and severe outer retinal atrophy and
retinoschisis.
OCT revealed areas of
retinoschisis in the parafoveal area in both eyes despite the normal appearance of the fovea (Figures 2e, f).
All patients were diagnosed with X-linked
retinoschisis by genetic testing.
In conjunction, AGTC has a been granted orphan drug designation from the EC and the US Food and Drug Administration (FDA) for its gene therapy product candidates for the treatment of X-linked
retinoschisis and for the treatment of achromatopsia caused by mutations in the CNGA3 and CNGB3 genes.
The indications of OCT include posterior segment lesions like the detection of fluid within the retinal layers or under the retina (which may not be visible clinically), (3) macular holes, pseudoholes, epiretinal membranes (ERMs), vitreo-macular adhesion (VMA), vitreomacular traction (VMT),
retinoschisis, retinal detachment, diabetic retinopathy (DR), age-related macular degeneration (ARMD), retinal nerve fiber layer thickness (RNFLT), optic disc parameters, as well as assessment and analysis of anterior segment structures like anterior chamber area, volume and iris thickness.
These cell lines include one disease free pluripotent cell line and 24 others with individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile
retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.
These cell lines include one disease free pluripotent cell line and 24 others widi individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile
retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.
(c) severe cystoid macular oedema--cystoid spaces with horizontal diameter [greater than or equal to] 600 [micro]m, or large confluent cavities with
retinoschisis appearance;
Some subjects explored are etiological agents of keratitis, design of a randomized myopia intervention trial, and surgical treatment for myopic macular
retinoschisis. Laser correction of myopia, ocular bacterial infections, and new therapies for bacterial keratitis are some other topics presented.