Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset

Abstract

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.

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

“…This shows that the E387K mutation is indeed widespread in the Rom ethnic group, and provides an explanation for the occurrence of several cases of parent-child (“pseudodominant”) transmission of the disease reported previously,25 27 as well as for the occurrence of large kinships, containing sometimes >30 affected members in several generations 28. The difference between the original estimate of the mutation frequency15and that reported here is significant (p<0.01), and may be the result of the randomly increased incidence of the mutation in the communities from which our sample originates. A study is now in progress aimed at identifying the local subpopulations within the Gypsy ethnic group exhibiting the highest incidence of the E387K mutation.…”

“…Our finding of 17 carriers in a sample of 158 healthy Roms (10.8%), assuming Hardy-Weinberg equilibrium, would imply an allele frequency of 5.7% and a homozygote frequency of 0.3% (1:308), which is four times more than the estimated incidence of PCG in Slovak Roms by Genčik et al 15. This shows that the E387K mutation is indeed widespread in the Rom ethnic group, and provides an explanation for the occurrence of several cases of parent-child (“pseudodominant”) transmission of the disease reported previously,25 27 as well as for the occurrence of large kinships, containing sometimes >30 affected members in several generations 28.…”

“…The estimated incidence of primary congenital glaucoma in western countries ranges from 1:500013 14 to 1:22 000,15 with most figures being close to 1:10 000 16. The disease is much more frequent in the Middle East (1:2500),17 but the highest incidence of 1:1250 has been reported for the population of Roms (Gypsies) in Slovakia 15.…”

“…The disease is much more frequent in the Middle East (1:2500),17 but the highest incidence of 1:1250 has been reported for the population of Roms (Gypsies) in Slovakia 15. In this population, PCG represents the major cause of blindness.…”

Familial Transmission Risk of Infantile Glaucoma in Australia

“…Although, our value for POPT of PIG is marginally greater than that calculated by Francois in a separate Caucasian population (1.0%), 6 it is lower than that for Slovakian Gypsies (5.4%), 18 who have been found to have the highest incidence of PIG. 20 Such a finding may reflect the differing rates of consanguinity between these populations.…”