Pre-term genetic diagnosis with immediate laser treatment after birth could help prevent vision loss in people affected by Norrie's disease, according to data published in 

, from the Illinois Eye and Ear Infirmary, University of Illinois, and Retina Consultants, Illinois, Chicago, USA, were the first to report a case of prophylactic laser treatment to prevent blindness in a patient who was diagnosed with Norrie's disease through genetic testing with amniocentesis.

The physicians examined a 37-week gestational age male who had a family history of Norrie’s disease and had undergone prenatal amniocentesis foetal-genetic testing at 23 weeks gestation. A C520T (nonsense) mutation was found in the Norrie’s disease gene, which was confirmed by examination under anaethesia on the first day of life. Laser photocoagulation was applied to the avascular retina bilaterally and the patient was followed closely.

There was complete regression of extraretinal fibrovascular proliferation observed one month after the laser treatment and no retinal detachment had occurred at 24 months. The Teller visual acuity of the patient was 20/100 at 23 months in both eyes and the patient’s vision and developmental milestones were determined to be appropriate for his age range.

As a result of these findings it was reported that performing pre-term genetic diagnosis and following with immediate laser treatment at birth could preserve vision in patients affected with Norrie’s disease.

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Pre-term genetic diagnosis with immediate laser treatment after birth could help prevent vision loss in people affected by Norrie?s disease.