Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis.
OBJECTIVE
To report the first case of prophylactic laser treatment to prevent blindness in a patient who was diagnosed with Norrie's disease by genetic testing with amniocentesis.


METHODS
Case report.


METHODS
A 2-year-old white boy with Norrie's disease.


METHODS
A 37-week gestational age male with a family history of Norrie's disease was born via Cesarean section after the mother had undergone prenatal amniocentesis fetal-genetic testing at 23 weeks of gestation. A C520T (nonsense) mutation was found in the Norrie's disease gene. After examination under anesthesia confirmed the diagnosis on the first day of life, laser photocoagulation was applied to the avascular retina bilaterally. The patient was followed closely by ophthalmology, pediatrics, and occupational therapy departments.


METHODS
Functional outcome, as documented by Teller visual acuity and formal occupational therapy testing, and anatomic outcome, as documented by Retcam photography and fluorescein angiography.


RESULTS
Complete regression of extraretinal fibrovascular proliferation was observed 1 month after laser treatment. No retinal detachment had occurred to date at 24 months. Teller visual acuity at 23 months of life was 20/100 in both eyes. The patient's vision and developmental milestones were age appropriate.


CONCLUSIONS
Pre-term genetic diagnosis with immediate laser treatment after birth may preserve vision in individuals affected with Norrie's disease.
Chow
Clement C
CC
Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA.
Kiernan
Daniel F
DF
Chau
Felix Y
FY
Blair
Michael P
MP
Ticho
Benjamin H
BH
Galasso
John M
JM
Shapiro
Michael J
MJ
D000649:Amniocentesis; D001766:Blindness / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000517:prevention & control* / Q000601:surgery; D018389:Codon, Nonsense; D005123:Eye / Q000254:growth & development; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D017075:Laser Coagulation; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D012162:Retinal Degeneration; D012163:Retinal Detachment / Q000517:prevention & control; D015792:Retinal Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D014785:Vision, Ocular / Q000502:physiology; D014792:Visual Acuity / Q000502:physiology
D018389:Codon, Nonsense