Genetic heterogeneity of congenital glaucoma

Gencík, A; Gencíková, A; Gerinec, A

doi:10.1111/j.1399-0004.1980.tb00142.x

Cited by 34 publications

(6 citation statements)

References 7 publications

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“…In the present study, in line with previous studies, the mean prevalence and incidence of PCG were higher in males than in females. The 4.73 versus 3.47 ratio of males to females for the prevalence of PCG in this study is smaller than the 2:1 ratio reported for an Australian population 16 but similar to that of 1.55:1, reported by Gencik et al 17 The incidence of PCG also showed a slight male predominance in our study (1.83 vs. 1.36). Similarly, the Indian study on 275 patients with childhood glaucoma, noted earlier, had a high proportion of males (58.9%: 162 males vs. 113 females).…”

Section: Discussionsupporting

confidence: 75%

Trends in Childhood Glaucoma Prevalence and Incidence in South Korea, 2002–2019: A Nationwide Population-Based Study

Baek,

Kim,

et al. 2024

Journal of Glaucoma

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Précis: This nationwide analysis identified the prevalence and incidence of childhood glaucoma for an 18-year period. The prevalence and incidence of primary congenital glaucoma showed increasing trends. Juvenile open-angle glaucoma, meanwhile, showed a decreasing tendency. Purpose: We aimed to determine the trends in the prevalence and incidence of childhood glaucoma in the entire population of South Korea. Patients and Methods: A nationwide retrospective cohort study was performed with an age- and sex-specific population of South Korea. The Korean National Health Insurance Service (KNHIS) claims database for 2002 to 2019 was accessed to identify cases of ophthalmologist-confirmed primary childhood glaucoma (i.e., primary congenital glaucoma [PCG] and juvenile open-angle glaucoma [JOAG]). Incidence for PCG was estimated for a same-birth-year population, while that for JOAG was estimated using age- and sex-specific population figures. To verify the glaucoma cases, we also analyzed the diagnostic codes as well as any information on medication prescriptions and/or ocular-surgery history. Results: During the 18-year observational period, totals of 505 and 7538 patients were diagnosed as PCG and JOAG, respectively. The mean prevalences of PCG and JOAG were 3.96±0.72 and 14.17±5.18, respectively. The prevalence of PCG showed an overall increasing trend during the study period, but the pattern was not significant (β=0.049, P=0.143); that of JOAG, meanwhile, showed a significant decreasing tendency (β=-0.713, P=0.001). PCG prevalence showed no difference between urban and rural areas, but JOAG showed a higher prevalence in rural areas (P<0.001). As for mean incidence, the rates for PCG and JOAG were 1.54±0.49 and 5.02±1.95 (per 100,000 person-years), respectively, and were higher in males (P<0.001 and P=0.013). Conclusion: This study identified childhood glaucoma prevalence and incidence in a general population of East Asian ethnicity. This data could help to promote better understanding of the typical epidemiological features and clinical courses of childhood glaucoma patients.

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Section: Discussionsupporting

confidence: 75%

Trends in Childhood Glaucoma Prevalence and Incidence in South Korea, 2002–2019: A Nationwide Population-Based Study

Baek,

Kim,

et al. 2024

Journal of Glaucoma

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“…21,22 Nonetheless, the genetic counsellor must estimate transmission risks and is unlikely to entertain non-Mendelian transmission frequencies. 23 Corroborating Genčík et al's work, 24 relatively few of our probands were found to have a PIG affected sibling. The majority of our PIG cases seem to be sporadic.…”

Section: Discussionsupporting

confidence: 51%

Familial Transmission Risk of Infantile Glaucoma in Australia

Hewitt¹,

MacKinnon²,

Giubilato³

et al. 2006

Ophthalmic Genetics

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Although this study reveals that Australian patients with ASD-associated infantile glaucoma are at greater risk of having children with infantile glaucoma than patients with PIG, the number of ASD pedigrees with direct transmission of infantile glaucoma is lower than expected. Based on our population frequency analysis and the results of our study, the risk of PIG, if one parent is affected by PIG and the other is normal, is less than 2%.

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“…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 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.…”

Section: Discussionmentioning

confidence: 59%

“…Genčik et al 25performed the first clinical and genetic study of PCG in the Slovak Roms and noticed that, in this population, the disease was clinically much more uniform, its course was more severe, and its prognosis worse than in the non-Rom patients. In Roms with PCG, the eyes are always bilaterally affected (while in the non-Roms this is the case in only <75%), the intraocular pressure is almost always >29 mm Hg (while in non-Roms, it is almost always <24 mm Hg), the disease can be always diagnosed at birth or within the first months of life (while in non-Roms, only one third of cases were diagnosed at birth, and less than 90% by the 12th month of life), and the response to surgical intervention as well as to other forms of treatment is much less favourable compared with that in non-Roms.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1999

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Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in Slovakia. Recently, we linked the disease in this population to the GLC3A locus on 2p21. At this locus, mutations in the cytochrome P4501B1 (CYP1B1) gene have been identified as a molecular basis for this condition. Here, we report the results of CYP1B1 mutation screening of 43 PCG patients from 26 Slovak Rom families. A homozygous G→A transition at nucleotide 1505 in the highly conserved region of exon 3 was detected in all families. This mutation results in the E387K substitution, which affects the conserved K helix region of the cytochrome P450 molecule. Determination of the CYP1B1 polymorphic background showed a common DNA haplotype in all patients, thus indicating that the E387K mutation in Roms has originated from a single ancestral mutational event. The Slovak Roms represent the first population in which PCG is found to result from a single mutation in the CYP1B1 gene, so that a founder effect is the most plausible explanation of its increased incidence. An ARMS-PCR assay has been developed for fast detection of this mutation, thus allowing direct DNA based prenatal diagnosis as well as gene carrier detection in this particular population. Screening of 158 healthy Roms identified 17 (10.8%) mutation carriers, indicating that the frequency of PCG in this population may be even higher than originally estimated.

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Genetic heterogeneity of congenital glaucoma

Cited by 34 publications

References 7 publications

Trends in Childhood Glaucoma Prevalence and Incidence in South Korea, 2002–2019: A Nationwide Population-Based Study

Trends in Childhood Glaucoma Prevalence and Incidence in South Korea, 2002–2019: A Nationwide Population-Based Study

Familial Transmission Risk of Infantile Glaucoma in Australia

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

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