Vitritis in pediatric genetic retinal disorders

Abstract

Purpose: To determine which types of pediatric retinal degeneration are associated with inflammatory cells in the anterior vitreous.

Design: Retrospective, observational study in humans.

Methods: Retrospective chart review was performed for pediatric patients with suspected retinal degeneration presenting to a single examiner from 2008 to 2013. Age, visual acuity (VA), slit-lamp examination of anterior vitreous (SLAV), and clinical and molecular genetic diagnoses were documented. Anterior vitreous cells were graded clinically with SLAV from rare cells (1-4) to 1+ (5-9), 2+ (10-30), or 3+ (>30). Cells were also counted in magnified slit beam photographs masked to molecular diagnosis when obtainable.

Main outcome measures: Cell counts in SLAV, best-corrected VA, and molecular and clinical diagnoses.

Results: We evaluated 105 charts, 68 of which (64.8%) included SLAV data. Numerous (1+ or greater) cells were present in 22 of 68 patients (32.4%), whereas 4 of 68 (5.9%) had rare cells and 42 of 68 (61.8%) had no cells. The average age between patients with cells, no cells, and rare cells did not differ significantly (P = 0.25). The VA averaged 20/124 in patients with cells, 20/143 in patients with no cells, and 20/68 in patients with rare cells (P = 0.70). The most frequent diagnoses with cells included Bardet Biedl syndrome (BBS), Leber congenital amaurosis (LCA), and retinitis pigmentosa. The most frequent diagnoses without cells included congenital stationary night blindness (CSNB), LCA, Stargardt disease, and blue cone monochromacy.

Discussion: A nonrandom subset of pediatric retinal degenerations exhibit vitritis. Cells were present in 5 of 5 BBS patients (a progressive degeneration), whereas cells were not detected in any of the 12 patients with CSNB (a stable dysfunction).

Conclusions: Studying vitritis in pediatric retinal degenerations may reveal whether inflammation accompanies progressive vision loss in certain subtypes. Potentially, inflammation could be treated. In addition, SLAV may aid in clinical diagnosis.