Analysis of 126 families comprising 205 patients with congenital glaucoma demonstrates that in Gypsies this disease follows the pattern of autosomal recessive inheritance with complete penetrance, while in the non-Gypsy population, its mode of inheritance is most probably multifactorial. In Gypsy patients with congenital glaucoma, the eyes are always bilaterally affected, the onset of the disease is in the prenatal period, and its course is rather severe. The population frequency of the disease is extremely high (among Gypsies), and the consanguinity rate among parents is as high as 41%. In non-Gypsy patients, 26.6% of all cases are only unilaterally affected, and the course of the disease is generally milder with a later onset. The population frequency in a non-Gypsy population is much lower, the consanguinity rate is not increased, and an excess of males (1.55:1) is significant.

Consanguinity↗

PubMed1979

Notes on the genetics of congenital glaucoma.

Relying on the analysis of 81 non-Gypsy families with congenital glaucoma from the entire territory of Slovakia, the authors discuss the share of the genetic component in the etiology of the disease. The characteristics of the families of this series resembled those of comparable series as far as the percentage of familial occurrence, the percentage of bilateral occurrence (73.56%), the percentage of parental consanguinity (4.87%) and in the prevalence of males with a ratio of 1.55:1 are concerned. The incidence of the disease in Slovakia varies around 1 per 22,000 live-born infants. In the non-Gypsy population of Slovakia, the authors assume a multifactorial etiology.

Consanguinity↗

PubMed1977

[Genetic heterogenicity of hydrophthalmos].

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Adolescent↗

PubMed1977

[Clinical analysis of families with hydrophthalmia].

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Czechoslovakia↗

PubMedDate not supplied

Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.

The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at 1p36), respectively, on families of Turkish and Saudi Arabian provenance. This disorder is known to occur with an extremely high incidence in Roms (Gypsies) in Slovakia. We performed a standard linkage analysis on a sample of 7 Slovak Gypsy families comprising 18 affected members, and found significant linkage with four STR markers from the chromosomal region of 2p21 (D2S1788, D2S1346, D2S2328, and D2S1356), without heterogeneity. This finding demonstrates that in the Rom population of Slovakia, primary congenital glaucoma is due to the locus GLC3A, and consequently, to the mutation(s) in the cytochrome P4501B1 gene, which has been recently identified as the principal cause of the disease. Roms represent the third population, in which the disorder has been mapped to GLC3A.

Chromosome Mapping↗