Early vitrectomy effective for Norrie disease.

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.

• 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)

Chemical References

• Eye Proteins
• NDP protein, human
• Nerve Tissue Proteins

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