Genetics Home Reference: achromatopsia
Condition: Achromatopsia Intervention: Diagnostic Test: Ocular assessments Sponsor: MeiraGTx UK II Ltd Recruiting
Publication date: Available online 4 September 2019Source: Stem Cell ResearchAuthor(s): Judit Domingo-Prim, Víctor Abad-Morales, Marina Riera, Rafael Navarro, Borja Corcostegui, Esther PomaresAbstractIncomplete achromatopsia (ACHM) is a disorder in which there is function defect of cone photoreceptors in the retina and individuals with such disease retain residual color vision. Here, we have generated an induced pluripotent stem cell (iPSC) line carrying a homozygous mutation in the PDE6C gene, already related with this vision disorder. Skin fibroblasts from a patient with incomplete ACHM were reprogrammed to iPSCs ...
Conditions: ACHROMATOPSIA 7; Achromatopsia Intervention: Drug: PBA Sponsor: Columbia University Not yet recruiting