This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmitted by autosomal recessive inheritance in Gypsies the gene frequency may be estimated to reach 2.8%. Early onset of the disease enabling diagnosis soon after birth in 82% of patients may be considered another characteristic of this type of primary congenital glaucoma.

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A family with two patients suffering from familial erythrophagocytic lymphohistiocytosis (FEL) is described. Reports on FEL found in the literature were collected and the family trees reconstructed. Genetic analysis of this material indicated that FEL is an autosomal recessive hereditary disease. This conclusion is supported by the following evidence: considerably increased consanguinity rate; complete concordance in monozygotic twins; more frequent occurrence in inbred populations and in cousins; limitation of cases to one generation, and results of segregation analysis.

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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:l) is significant.