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Maria Stunkel, Sajag Bhattarai, Edwin Stone, Kai Wang, Robert Mullins, Arlene Drack; Vitritis in pediatric retinal degenerations. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1168.
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Cells can be observed in the anterior vitreous (AV) of many patients with genetic retinal degenerations. This may represent inflammation with diagnostic, prognostic and therapeutic significance.
Retrospective chart review of patients presenting with suspected retinal degeneration to a single examiner from 2008-2012. Age, visual acuity (VA), slit lamp examination (SLE) of AV, clinical and molecular genetic diagnoses were documented. Data was analyzed using Student’s t-test and Fisher exact test.
106 charts were identified; 2 were excluded as unaffected siblings. 66/104 (63.5%) had SLE of AV data recorded. SLE could not be accomplished in 38/104 (36.5%) due to youth (average age 9.3 years with SLE vs. 3.3 without, p=2.1x10-12). 42/66 (63.6%) had no vitritis. 20/66 (30.3%) had 1+ or greater cells. 4/66 (6.1%) had rare cells. Average age between cells and no-cells (9.6 vs. 9.5 years) did not differ significantly. VA averaged 20/142 with cells; 20/419 no-cells (p=0.068). Diagnoses with cells: BBS(5), LCA(5), RP(5), Usher(2), CLN3(1), JXLR(1), possible Stargardt(1). Diagnoses without cells: CSNB(12), LCA(8), Stargardt(5), blue cone monochromacy(4), RP(3), achromatopsia(2), JXLR (2), nystagmus(2), CLN1(1), Joubert(1), Cobalamin G deficiency(1), autism/obesity(1). 5/20 patients with cells had BBS vs. 0/42 patients without (p=0.002). 12/42 patients without cells had CSNB compared to 0/20 patients with (p=0.006). Genetic subtypes of LCA did not overlap: RDH12(2), CRX(1) cells; CEP290(3), GUCY2D(2), AIPL1(1) no-cells.
A non-random subset of pediatric retinal degenerations exhibit vitritis. 5/5 BBS patients (progressive) demonstrated cells whereas 0/12 patients with CSNB (stable) did. Studying pediatric retinal degenerations with and without vitritis may elucidate whether inflammation accelerates vision loss in certain subtypes. Potentially, inflammation could be treated. SLE of AV may aid in clinical diagnosis.
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