We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.

Mutations of the TIGR/MYOC Gene in Primary Open-Angle Glaucoma in KoreaTo the Editor: Glaucoma affects 13.5 million people in North America. Although treatable in the early stages, often it is not diagnosed and treated in time, which results in irreversible blindness. Primary open-angle glaucoma (POAG), the most common form of glaucoma, represents 150% of glaucoma cases in Western countries (Raymond 1997). POAG is an eye disorder characterized by the progressive excavation of optic disks, typical visual-field defects, and optic-nerve damage. Many families with autosomal dominant POAG have been reported (Brezin et al. 1997). The initial finding of a linkage between the juvenile-onset form of POAG (JOAG) and markers at the GLC1A locus on 1q21-31 (Sheffield et al. 1993) was subsequently confirmed in other families (MIM 137750). Recently, Stone et al. (1997) showed that mutations of the TIGR/MYOC (trabecular meshwork-induced glucocorticoid-response protein/myocilin) gene (MIM 601652), which maps at the GLC1A locus, were responsible for JOAG, as well as for middle-age-onset POAG. After publication of that report, other investigators have described various mutations in TIGR/MYOC in patients with JOAG/POAG (Adam et al. 1997; Suzuki et al. 1997;Mansergh et al. 1998; Michels-Rautenstrauss et al. 1998). Although a few mutations were found in different exons (Alward et al. 1998), most mutations reported to date are clustered in the third exon. This exon is evolutionarily conserved and bears sequence homology with the olfactomedin gene (Yokoe and Anolt 1993). We investigated whether Korean patients with JOAG/POAG have the mutations of the TIGR/MYOC gene. In our report we present two patients whose genomes harbor different TIGR/MYOC gene mutations.After obtaining informed consent, we collected peripheral-blood samples from 45 unrelated patients with POAG who visited the Department of Ophthalmology at the Catholic University Medical Center, Korea. The patients were given diagnoses of POAG on the basis of findings from ocular examinations. Patients with POAG were determined to be affected if intraocular pressure (IOP) was 122 mmHg in both eyes and if the cup/disk ratio was 10.3, with characteristic visual-field loss and gonioscopic grade III or IV. Blood samples were also obtained from 106 patients who had visited the Catholic University Medical Center because of diseases other than POAG and who served as controls. Genomic DNA was extracted from each blood sample by means of DNAisolation kits for mammalian blood (Boehringer Mannheim). The DNA fragments encoding portions of TIGR/ MYOC protein were amplified by means of PCR and were analyzed by cold SSCP. The primers used for PCR are shown in table 1. The nucleotide numbers correspond to those in the work of Nguyen et al. (1998). A PCR reaction was performed in a 30-ml volume containing 50 ng of genomic DNA, 0.2 mM each of forward and reverse primers, 0.19 mM of each deoxyribonucleotide triphosphate (dATP, dCTP, dGTP, and dTTP), 50 mM KCl, 1.5 mM MgCl 2 , and 10 mM Tris-HCl, pH...

H-Y antigen expression was detected on cells from an individual having a presumptive 45,X/46,X,i(Yp) karyotype, but was absent on cells from another person having a 46,X,i(Yq) karyotype. This suggests that the short arm of the human Y chromosome is essential for H-Y antigen expression, at least in the subjects studied.

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