ABSTRACT
AIM: To characterise new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous Nr2e3(rd7) (rd7) mutant mice. METHODS: Four patients from an affected family were included for genotypic and phenotypic study. Eye tissues from rd7 mice were used to detect a possible relationship between macrophages and autofluorescent material by immunohistochemistry (IHC) staining. RESULTS: Homozygous mutation in R311Q in NR2E3 was detected in this family. Colour photographs revealed that white dots do not correlate to hyperautofluorescent spots seen in autofluorescence imaging of the macula. OCT showed rosette-like lesions similar to those found in rd7 mice histology sections. From IHC analysis, we observed that F4/80 (a pan macrophage marker) and autofluorescence were colocalised to the same cells within the retina rosettes. CONCLUSIONS: The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice. The macrophages were found to contain autofluorescent materials in the retinal rosettes of rd7 mice. These data are consistent with macrophage infiltration contributing to the hyperautofluorescent spots found in our patients.
Subject(s)
Gene Expression Regulation, Developmental/genetics , Mutation/genetics , Receptors, Cytoplasmic and Nuclear/genetics , Retinal Cone Photoreceptor Cells/physiology , Retinal Degeneration/genetics , Transcription Factors/genetics , Animals , Child , Fluorescein Angiography , Fundus Oculi , Gene Expression Regulation, Developmental/physiology , Humans , Immunohistochemistry , Male , Mice , Mice, Mutant Strains , Orphan Nuclear Receptors , Pedigree , Retinal Degeneration/physiopathologyABSTRACT
PURPOSE: To determine the association between cystoid macular edema and vascular endothelial growth factor concentration in the aqueous humor and plasma of uveitis patients. METHODS: Cross-sectional study. Vascular endothelial growth factor concentrations were measured by enzyme-linked immunosorbent assay in the aqueous humor of 20 uveitis patients (9 with and 11 without cystoid macular edema), and in the plasma of 40 uveitis patients (20 with and 20 without cystoid macular edema) and 20 healthy volunteers. RESULTS: Mean aqueous humor vascular endothelial growth factor concentrations for uveitis patients with and without cystoid macular edema were 152.3 and 109.5 pg/ml, respectively, P =.044. Mean plasma vascular endothelial growth factor concentrations in uveitis patients with and without cystoid macular edema and in healthy volunteers were 32.2, 29.6, and 55.0 pg/ml, respectively. Uveitis patients had lower plasma vascular endothelial growth factor levels than did healthy volunteers, P =.0002. CONCLUSION: In uveitis patients, vascular endothelial growth factor concentration is increased in the aqueous humor of eyes with cystoid macular edema. It may be useful to investigate vascular endothelial growth factor antagonists as a treatment for uveitis-associated cystoid macular edema.
Subject(s)
Aqueous Humor/metabolism , Endothelial Growth Factors/metabolism , Lymphokines/metabolism , Macular Edema/metabolism , Uveitis/metabolism , Adolescent , Adult , Aged , Child , Cross-Sectional Studies , Enzyme-Linked Immunosorbent Assay , Female , Humans , Macular Edema/etiology , Male , Middle Aged , Uveitis/complications , Vascular Endothelial Growth Factor A , Vascular Endothelial Growth FactorsSubject(s)
Choroid Diseases/complications , Mastocytosis/complications , Orbital Diseases/complications , Adult , Choroid Diseases/diagnosis , Diagnosis, Differential , Humans , Magnetic Resonance Imaging , Male , Mastocytosis/diagnosis , Orbital Diseases/diagnosis , Retinal Detachment/diagnosis , Visual AcuityABSTRACT
PURPOSE: In adults with human immunodeficiency virus (HIV) infection, frosted branch angiitis is commonly associated with cytomegalovirus retinitis and responds to anti-cytomegalovirus therapy. We describe the first pediatric case of HIV-associated frosted branch angiitis. METHODS: Case report. RESULTS: A 7-year-old HIV-infected male with frosted branch angiitis was refractory to induction doses of intravenous ganciclovir and foscarnet over a 2-month period. Although cytomegalovirus antigenemia resolved, the angiitis only improved after subsequent treatment with systemic corticosteroids. CONCLUSION: Frosted branch angiitis in this patient was not attributed to cytomegalovirus. The pathogenesis of HIV-associated frosted branch angiitis may differ between children and adults.