Abstract | OBJECTIVE: To review our experience with Norrie disease to determine if early vitrectomy abrogates the natural history of this rare disease; namely, bilateral no light perception visual acuity and phthisis bulbi. METHODS: We retrospectively reviewed the medical records of all patients seen in our tertiary care pediatric retinal clinical practice from 1988 through 2008 with a potential diagnosis of Norrie disease. Inclusion required not only clinical findings consistent with Norrie disease but also genetics and/or a family history consistent with Norrie disease. RESULTS: Medical record review revealed 14 boys with clinically diagnosed Norrie disease and either Norrie disease gene (NDP) mutations noted on genetic testing (13 patients) and/or a clear family history consistent with Norrie disease (4 patients). All 14 boys with definite Norrie disease had vitrectomy with or without lensectomy in at least 1 eye prior to 12 months of age. Of the 14 boys with definite Norrie disease, 7 maintained at least light perception visual acuity in 1 eye and 3 had no light perception visual acuity bilaterally; visual acuity data were not available for 4 patients. Only 2 of 24 (8%) eyes became phthisical. CONCLUSIONS:
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Authors | Mark K Walsh, Kimberly A Drenser, Antonio Capone Jr, Michael T Trese |
Journal | Archives of ophthalmology (Chicago, Ill. : 1960)
(Arch Ophthalmol)
Vol. 128
Issue 4
Pg. 456-60
(Apr 2010)
ISSN: 1538-3601 [Electronic] United States |
PMID | 20385941
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Eye Proteins
- NDP protein, human
- Nerve Tissue Proteins
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Topics |
- Blindness
(genetics, physiopathology)
- Child, Preschool
- Eye Proteins
(genetics)
- Female
- Functional Laterality
- Genetic Diseases, X-Linked
(genetics, physiopathology, surgery)
- Hearing Loss
(genetics, physiopathology)
- Humans
- Infant
- Intellectual Disability
(genetics, physiopathology)
- Lens, Crystalline
(surgery)
- Male
- Nerve Tissue Proteins
(genetics)
- Retinal Dysplasia
(genetics, physiopathology, surgery)
- Retrospective Studies
- Treatment Outcome
- Visual Acuity
(physiology)
- Vitrectomy
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