Early vitrectomy effective for Norrie disease.
Arch Ophthalmol
; 128(4): 456-60, 2010 Apr.
Article
em En
| MEDLINE
| ID: mdl-20385941
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:
Historically, no treatment has been offered to mitigate the dismal natural history of Norrie disease. We recommend consideration of early vitrectomy in Norrie disease.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Vitrectomia
/
Displasia Retiniana
/
Doenças Genéticas Ligadas ao Cromossomo X
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article