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Achromatopsia (ACHM; OMIM 216900) is an autosomal recessive retinal dystrophy affecting cone cells, characterised by photophobia, decreased visual acuity, nystagmus and colour blindness.1 ACHM occurs in complete and incomplete forms based on inability to distinguish colours.
* The report reviews key players involved Achromatopsia therapeutics and enlists all their major and minor projects
She believes that years down the line, research into gene therapy funded by Sight Savers may help achromatopsia suffers.
- The European Medicines Agency has granted London- and New York-based gene therapy company MeiraGTx Priority Medicines (PRIME) designation to its's gene therapy product candidate A002 for the treatment of patients with achromatopsia due to mutations in the CNGB3 gene, the company said.
Biotechnology company Applied Genetic Technologies (NasdaqGM:AGTC) announced on Wednesday the submission of an Investigational New Drug application (IND) with the US Food and Drug Administration to launch a Phase I/II clinical trial of its gene therapy product candidate for the treatment of achromatopsia, an inherited retinal disease.
People who are totally colour blind, a condition called achromatopsia, can only see things as black and white or in shades of gray.
The youngster from Kinmel Bay suffers from achromatopsia - a rare eye condition which means she can't see in colour and is blinded by the sun.
Lines may appear wavy (dysmorphopsia), objects may appear inclined (plagiopsia), and there may be a loss of colour (achromatopsia) [8, 46, 47].
Twins Nerys Parry and Nesta Jones and their older sibling, Rhian Thomas - all have sons with genetically inherited achromatopsia.
blindness (cerebral achromatopsia) were described and how, eventually,
Researchers have now pinpointed a mutation that results in achromatopsia in these people in a gene called CNGB3.
Janssen Pharmaceutical of Johnson & Johnson (JNJ) announced a worldwide collaboration and license agreement with MeiraGTx (MGTX) to develop, manufacture and commercialize its clinical stage inherited retinal disease portfolio, including leading product candidates for achromatopsia, or ACHM, caused by mutations in either CNGB3 or CNGA3, and X-linked retinitis pigmentosa, or XLRP.
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- Achromatopsia 1
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