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Arch Ophthalmol. 2010 Apr;128(4):456-60. doi: 10.1001/archophthalmol.2009.403.

Early vitrectomy effective for Norrie disease.

Author information

1
Associated Retinal Consultants, PC, William Beaumont Hospital, Royal Oak, Michigan, USA. walshmk@gmail.com

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.

PMID:
20385941
DOI:
10.1001/archophthalmol.2009.403
[Indexed for MEDLINE]
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