Ocular side effects of systemic fluorouracil include excessive lacrimation, due to punctal and canalicular stenosis and fibrosis. Obstruction of the tear ducts after systemic therapy with fluorouracil is more frequent than is assumed. Five patients with breast cancer and punctal or canalicular stenosis are presented. Although complaints of epiphora usually resolve two weeks after cessation of systemic therapy, local antibiotics and steroids may be indicated. In patients with persisting complaints, and patients treated with fluorouracil for a prolonged period of time, prophylactic intubation of the tear ducts with silastic tubes has been advocated. (Conjunctivo)dacryocystorhinostomy may be unavoidable.
A Dutch family with autosomal dominant retinitis pigmentosa (adRP) displayed a phenotype characterized by an early age of onset, a diffuse loss of rod and cone sensitivity, and constricted visual fields (type I). One male showed a mild progression of the disease. Linkage analysis showed cosegregation of the genetic defect with markers from chromosome 17p13.1-p13.3, a region overlapping the RP13 locus. The critical interval of the RP locus as defined in this family was flanked by D17S926 and D17S786, with a maximal lod score of 4.2 (theta = 0.00) for marker D17S1529. Soon after the mapping of the underlying defect to the 17p13 region, a missense mutation (6970G>A; R2310K) was identified in exon 42 of the splicing factor gene PRPC8 in one patient of this family. Diagnostic restriction enzyme digestion of exon 42 amplified from genomic DNA of all family members revealed that the R2310K mutation segregated fully with the disease. The type I phenotype observed in this family is similar to that described for three other RP13 families with mutations in PRPC8.
The data on echographic routine diagnosis of intraocular tumours (prominence equal to, or larger than 2 mm) during the years 1976-1990 in the authors' department, were analyzed by multivariate statistical methods, using the final diagnosis either from pathology after enucleation or from the confirmed clinical diagnosis. The material consisted of melanomas (n = 325), metastases (n = 44), haemangiomas (n = 19) and other intraocular tumours (n = 16). The best set of echographic parameters in descending order of significance was: reflectivity (A-mode), choroidal excavation (B-mode), shape (B-mode), and regularity (A/B mode). Echographic differentiation by computer analysis of data on the three main kinds of tumours (melanoma/metastasis/haemangioma) separate from all the remaining tumours was expressed by the correct fraction: melanoma 89%, metastasis 80% and haemangioma 97%. The clinical echographic classification for these cases was 89%, 93% and 99.5%, respectively. The simultaneous differentiation between the three classes was found to yield a correct fraction of 85% by computer statistics and 95% by routine echography. The results of the present study might be used for prospective classification through the use of the parameter 'knowledge base' contained in the statistical classification procedure.
Relapsing polychondritis is a rare, presumably inflammatory autoimmune disorder affecting cartilagenous structures throughout the body. The ears, nose, joints, eyes and the respiratory tract are most frequently involved. The main ocular manifestations are episcleritis and scleritis, conjunctivitis, iridocyclitis and chorioretinitis, cataract and corneal infiltrates and melting. Extraocular signs and symptoms often are indicative of the diagnosis. Therapy includes systemic steroids, immunosuppressive drugs and dapsone. Three case histories are reported and the literature of ocular manifestations of relapsing polychondritis is reviewed.
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