Mutation in this gene causing disorder of phototransduction pathway through brain which detect light fail to function. Diagnosis
Paediatric nurses, medical officers and paediatricians trained in eye screening could detect small or large eyeballs, nystagmus, strabismus, “white pupils” and birth defects like coloboma and aniridia. For pregnant women from family with history of congenital blindness will be closely monitor and need to carry out genetic test in order to identify is there mutation occur or not. Gene therapy treatment
Gene therapy treatment is done as an outpatient. Patients come to the hospital for the treatment, then return home. Patients do not need to be monitored strictly or stay in the hospital. The gene therapy treatment is in vivo which involves the use of a delivery vector to transmit the therapeutic gene into the targeted cells. The delivery vector uses a recombinant adeno-associated virus (AAV) carrying the RPE65 gene (AAV2-hRPE65v2). The procedure is a single injection of the AAV2-hRPE65v2 therapeutic gene into the unilateral subretinal of the eye. Gene therapy can only improve eye vision, but cannot cure the condition. The therapeutic gene, Voretigene neparvovec (Luxturna), was the first gene therapy approved by FDA for inherited diseases. == References ==
Junctional epidermolysis bullosa may refer to:

Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa (veterinary medicine)