Subject(s)
Corneal Transplantation , Child , Child, Preschool , Humans , Infant , Patient Selection , Postoperative Complications , Tissue DonorsSubject(s)
Eye Diseases/diagnostic imaging , Eye/diagnostic imaging , Child , Child, Preschool , Diagnostic Imaging/methods , Humans , Infant , UltrasonographyABSTRACT
Ocular inflammation occurs in many patients with systemic rheumatic disease. The best examples are rheumatoid arthritis, juvenile rheumatoid arthritis, temporal arteritis, systemic lupus erythematosus, Wegener's granulomatosis, polyarteritis nodosa, relapsing polychondritis, and Adamantiades-Behçet's disease. Ocular inflammation may precede the symptoms of the systemic disease and can be helpful in systemic diagnosis. After diagnosis, ocular inflammation can mark the severity of the systemic condition. Thus, prompt diagnosis and treatment of inflammatory conditions of the eye are warranted and may be sight- and life-saving.
Subject(s)
Eye Diseases/diagnosis , Eye Diseases/epidemiology , Rheumatic Diseases/diagnosis , Rheumatic Diseases/epidemiology , Cataract/diagnosis , Cataract/epidemiology , Cataract/therapy , Comorbidity , Eye Diseases/therapy , Female , Humans , Incidence , Keratitis/diagnosis , Keratitis/epidemiology , Keratitis/therapy , Male , Prognosis , Risk Factors , Scleritis/diagnosis , Scleritis/epidemiology , Scleritis/therapyABSTRACT
OBJECTIVES: To search for novel mutations that cause corneal stromal dystrophies and to confirm or revise the clinical diagnosis of patients with these mutations. PATIENTS: Through review of the records of the Cogan Eye Pathology Laboratory at the Massachusetts Eye and Ear Infirmary, Boston, and of clinical records, we ascertained 14 unrelated patients with the clinical or histopathologic diagnosis of granular (3 cases), Avellino (5 cases), lattice (5 cases), or Reis-Bücklers (1 case) corneal dystrophy. METHODS: Clinical records and histopathologic findings of the index patients and their relatives were reviewed. Patients and selected relatives donated a blood sample from which leukocyte DNA was purified and assayed for mutations in the BIGH3 gene and, in 2 patients, the gelsolin gene, using the polymerase chain reaction and direct genomic sequencing. RESULTS: All index patients with the diagnosis of granular dystrophy or Avellino dystrophy had the missense mutation Arg555Trp or Arg124His, respectively, previously reported in the BIGH3 gene. Of the 5 index patients with a prior diagnosis of lattice dystrophy, 2 had the originally reported lattice mutation (Arg124Cys) in the BIGH3 gene, 1 had a more recently reported missense mutation (His626Arg) in the same gene, 1 had the missense mutation Asp187Asn in the gelsolin gene, and 1 had no detected mutation in either gene. Affected members of the family with Reis-Bücklers dystrophy did not carry the previously reported mutations Arg555Gln or Arg124Leu but instead carried a novel missense mutation Gly623Asp in the BIGH3 gene. CONCLUSIONS: Molecular genetic analysis can improve the accuracy of diagnosis of patients with corneal dystrophies. Two patients with a prior diagnosis of lattice corneal dystrophy had their diagnosis changed to gelsolin-related amyloidosis (1 case) or secondary, nonhereditary localized amyloidosis (1 case). A novel mutation in the BIGH3 gene that causes Reis-Bücklers dystrophy was uncovered through this analysis, and another recently reported novel mutation was encountered. These findings serve to expand our knowledge of the spectrum of pathogenic mutations in BIGH3.
Subject(s)
Corneal Dystrophies, Hereditary/genetics , Extracellular Matrix Proteins , Eye Proteins/genetics , Gelsolin/genetics , Mutation, Missense , Neoplasm Proteins/genetics , Transforming Growth Factor beta/genetics , Adult , Aged , Corneal Dystrophies, Hereditary/pathology , DNA/analysis , DNA Primers/chemistry , Female , Humans , Male , Middle Aged , Pedigree , Polymerase Chain Reaction , Visual AcuityABSTRACT
Restenosis is a serious problem limiting the long-term efficacy of percutaneous transluminal coronary angioplasty. Neointimal smooth muscle proliferation is the major process underlying restenosis. The objective of this study was to investigate the effects of external irradiation on neointimal hyperplasia following balloon angioplasty. We examined the ability of external X-ray irradiation to inhibit intimal hyperplasia following balloon angioplasty in a non-atherosclerotic rabbit model. Baseline quantitative angiography (day 0) was performed in all rabbits and balloon angioplasty was performed in the right (control) and the left iliac arteries. Five days after balloon angioplasty, the left iliac in each rabbit was irradiated with either 600 cGy (n = 5) or 1200 cGy (n = 5). Twenty-eight days following angioplasty final angiography was performed. All rabbits were sacrificed, and the iliac arteries were fixed for morphometric measurements. Comparison of baseline and final angiographic measurements revealed a significant decrease in average and minimum lumen dimensions for both control and irradiated segments (600 and 1200 cGy) [average: P (baseline vs. final) 0.008 (control), 0.001 (600 cGy); 0.05 (control), 0.007 (1200 cGy)]. Morphometric analysis showed no difference in neointimal cross-sectional area between control (0.29 +/- 0.05 mm2) and 600 cGy irradiated segments (0.32 +/- 0.07 mm2) (P = 0.82). However, there was a statistically significant reduction in neointimal hyperplasia in the 1200 cGy irradiated segments (0.09 +/- 0.02 mm2) compared to control (0.23 +/- 0.06 mm2, P = 0.02). There was no significant difference in medial cross-sectional area between control and irradiated segments (600 and 1200 cGy). We conclude that in this model, external beam X-ray irradiation (1200 cGy) was successful in reducing neointimal proliferation after balloon angioplasty. Whether or not this approach can be used successfully to inhibit restenosis in the clinical setting requires further investigation.
