Abstract | 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. DESIGN: Case report. PARTICIPANTS: METHODS: MAIN OUTCOME MEASURES: 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.
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Authors | Clement C Chow, Daniel F Kiernan, Felix Y Chau, Michael P Blair, Benjamin H Ticho, John M Galasso, Michael J Shapiro |
Journal | Ophthalmology
(Ophthalmology)
Vol. 117
Issue 12
Pg. 2402-6
(Dec 2010)
ISSN: 1549-4713 [Electronic] United States |
PMID | 20619898
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved. |
Chemical References |
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Topics |
- Amniocentesis
- Blindness
(congenital, diagnosis, genetics, physiopathology, prevention & control, surgery)
- Codon, Nonsense
- Eye
(growth & development)
- Fluorescein Angiography
- Follow-Up Studies
- Genetic Diseases, X-Linked
- Gestational Age
- Humans
- Infant, Newborn
- Laser Coagulation
- Male
- Nervous System Diseases
(diagnosis, genetics, physiopathology, surgery)
- Retinal Degeneration
- Retinal Detachment
(prevention & control)
- Retinal Dysplasia
(diagnosis, genetics, physiopathology, surgery)
- Spasms, Infantile
(diagnosis, genetics, physiopathology, surgery)
- Vision, Ocular
(physiology)
- Visual Acuity
(physiology)
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