KeyWords: Exome sequencing, Genotype-phenotype correlation, Novel mutation, Achromatopsia
, Genetic diagnosis.
* The report reviews pipeline therapeutics for Achromatopsia
by companies and universities/research institutes based on information derived from company and industry-specific sources
is caused by a malfunction of the eye's "cone photoreceptors" located in the retina, the light sensitive layer at the back of the eye.
is quite rare, Komaromy said it's a good model disease for other disorders affecting the photoreceptors, conditions that constitute a major cause of incurable blindness in dogs and humans.
is an inherited condition that blights cone photo-receptor cells in the retina which enable people to see colour and light.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
She says: "Tyla amazes me every day with how well she copes but she desperately wants to meet other children with achromatopsia
and we'd love for her to have someone to talk to about it who understands exactly what she's going through.
The other known mutation leading to achromatopsia
, this form of color blindness, is on chromosome two.
The inclusion of color-related stimuli is based on the common finding of color anomia (inability to name color hues) and achromatopsia
(inability to discriminate hues) in alexic patients (Albert, Goodglass, Helm, Rubens, & Alexander, 1981).
The company completed enrollment of the dose escalation portion of the achromatopsia
, or ACHM, CNGB3 trial, which is evaluating the safety and efficacy of its product candidate, rAAV2tYF-PR1.7-hCNGB3, for the treatment of ACHM caused by mutations in the CNGB3 gene.
M2 PHARMA-March 7, 2018-EMA Grants MeiraGTx PRIME Designation for Achromatopsia
Gene Therapy Candidate
M2 EQUITYBITES-October 20, 2016-AGTC files IND with US FDA for gene therapy product for treating achromatopsia