Laser treatment at birth may prevent vision loss from Norrie's disease

Article

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

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 Ophthalmology.

Dr Michael J. Shapiro et al., 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.

Newsletter

Join ophthalmologists across Europe—sign up for exclusive updates and innovations in surgical techniques and clinical care.

Recent Videos
Christine Curcio, PhD, of the University of Alabama at Birmingham Heersink School of Medicine, shares histology update and revised nomenclature for OCT with Sheryl Stevenson of the Eye Care Network and Ophthalmology Times
SriniVas R. Sadda, MD, FARVO, shares key points from his retina presentation at the International SPECTRALIS Symposium
Robert Sergott, MD, describes fluorescence lifetime imaging ophthalmoscopy (FLIO) and the International SPECTRALIS Symposium – And Beyond (ISS) in Heidelberg, Germany.
Rayaz Malik, MBChB, PhD, a professor of medicine at Weill Cornell Medicine - Qatar, spoke with Ophthalmology Times Europe about his presentation. It's titled "An eye on neurodegenerative diseases: Challenging the dogma" at the International SPECTRALIS Sympsoium. In conversation with Hattie Hayes, Ophthalmology Times Europe
Anat Loewenstein, MD, describes her presentation on remote imaging for age-related macular degeneration and geographic atrophy at the International SPECTRALIS Symposium, in conversation with Hattie Hayes of Ophthalmology Times Europe
Tyson Brunstetter, OD, PhD, a US Navy Aerospace Optometrist at the NASA Johnson Space Center in Houston, Texas, shares key takeaways from his keynote at the International SPECTRALIS Symposium (ISS)
Rayaz Malik, MBChB, PhD, shares his presentation, titled An eye on neurodegenerative diseases: Challenging the dogma, at this year's International SPECTRALIS Symposium
At the Retina World Congress, Siegfried Priglinger, MD, speaks about ensuring the best outcomes for preschool-aged patients
At the 2025 ASCRS meeting, Robert Ang, MD said small aperture IOLs can benefit all patients, especially those with complex corneas or who have undergone previous corneal refractive surgery
Viha Vig, MBChB graduate student at the University of Auckland, New Zealand, discusses her poster presentation on the relationship between mitochondiral disease, Alzheimer disease, and other types of dementia.
© 2025 MJH Life Sciences

All rights reserved.