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S Boutboul, E Nandrot, J Heligon, M Ullern, C Marsac, M Menasche, M Abitbol, L Laroche; Familial Pseudotumoral Sclerochoroidal Calcifications Associated with Chondrocalcinosis . Invest. Ophthalmol. Vis. Sci. 2002;43(13):821.
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Purpose: Sclerochoroidal calcifications (SSC) are depositions of calcium in sclera and choroid. It has been observed in several metabolic diseases including hyperparathyroidism, pseudohypoparathyroidism, hypervitaminose . Shields and al described in 1997 a case of SCC associated with calcium pyrophosphate dihydrate deposition (pseudogout). We present familial case of sclero-choroidal calcification associated with chondrocalcinosis. We performed a Linkage study of markers flanking the two known loci of inherited chondrocalcinosis. Method: We performed the clinical evaluation of a family comprising three affected patients and one normal patient as well as other distinct families presenting a similar phenotype. Ophthalmic evaluation and fundoscopy of all affected patients revealed multiple bilateral pseudotumoral sclerochoroidal calcifications. The affected patients from the different families had a medical history of pseudogout diagnosed by X-rays and extensive metabolic evaluation. Furthermore, we did a linkage study using several CA repeats polymorphic markers flanking the two known loci mapped for inherited autosomal dominant chondocalcinosis on chromosomes 8 and 5. We analyzed the intron-exon structure of the ENPP2 gene using biocomputing methods. We screened this gene for mutations in our affected, normal and control patients. Finally, we determined by in situ hybridization and northern blots analysis the ENPP2 gene expression pattern during early development by means of specific radioactively labeled probes. Results: We obtained preliminary data suggesting a cosegregation of two markers, flanking the CCAL1 locus on chromosome 8q21.1,and the abnormal phenotypes observed in our families. We report the result of our screening of the ENPP2 gene for mutations in our families. Additionally, we report that ENPP2 gene is significantly expressed both in developing cartilages, central nervous system, eye, kidney as well as numerous other tissues.Conclusion: Fundoscopy should be systematically performed in all patients affected by pseudogout. Furthermore, all family members of any proband affected by Pseudogout and ocular manifestations should be also systematically examined and tested for nucleotide variations of the ENPP2 gene. Its mRNA tissue distribution can be easily reconciled with the clinical manifestions of the ENNP2 gene.
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