Creed Pettit, a 9 year boy from Miami, Florida had been slowly going blind since the day he was born. After a series of tests and analysis his doctors advised genetic testing. The test indicated that he had a rare genetic condition called Leber Congenital Amaurosis (LCA).
The mutation was identified in RPE65, a gene associated with retinal dystrophy, which leads to vision loss and complete blindness in certain patients.
His genetic diagosntic results allowed his opthalomologist to treat him with Luxturna (voretigene neparvovec-rzyl), an FDA-approved gene therapy to treat children and adults with biallelic RPE65 mutation. Today Creed is able to see the world again.
Summary
- Genetic testing ensured identification of mutation in RPE65 as the responsible gene for patient’s blindness
- Subsequent gene therapy with Luxturna ensured restoration of sight
- More than 60% of cases of blindness among infants are caused by inherited eye diseases such as congenital cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations
About MedGenome
MedGenome is the leading solution provider of clinical genomics for Ophthalmologist across India, with an unmatched expertise and offerings, including clinical diagnosis, carrier testing, genetic counseling and validation of inheritance pattern.
| Medgenome offers | Test Sample requirements | Required forms | TAT |
| Retinal degeneration panel (involves screen of 244 genes underlying different retinal disorders like LCA, RP, CRD etc) | 21 to 28 days | ||
| Retinal degeneration panel (covers 8332 genes which. Are clinically relevant that are reported in either OMIM or HGMD to be associated with a Mendelian disorder. This includes all the retinal degeneration panel genes ) |  | Test requisition from along with relevant clinical information including pedigree, consanguinity, age of onset, clinical presentation and symptoms | 21 to 28 days |
| NGS sequencing RPE65 gene analysis |  | 21 to 28 days |
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