Primary congenital glaucoma in Denmark, 1977–2016

Abstract

Purpose To perform an epidemiological survey of all patients in Denmark diagnosed with primary congenital glaucoma (PCG) from 1977 to 2016. Methods A retrospective, nationwide study based on a review of medical files of all children with PCG born in Denmark from 1977 to 2016. PCG was defined as glaucoma due to isolated angle dysgenesis affecting children from birth and including late onset/late recognized PCG, excluding glaucoma associated with other congenital abnormalities. Incidence and risk factors of PCG including gender, consanguinity, family history, ethnicity, comorbidity and prematurity were evaluated and stratified by decade (1977–1986, 1987–1996, 1997–2006 and 2007–2016). Age at first symptoms, age at diagnosis, age at time of first surgery and possible diagnostic delay were assessed. Results Of 118 patients were identified, annual incidence of PCG was 4.8 per 100 000 live born. 62.3% of cases were bilateral. The relative risk (RR) of PCG was significantly higher in boys (62.7% of patients, RR 1.60 (95% CI 1.10–2.32)). 13.6% had comorbidity. Median age at time of first symptoms was 75 days, median age at time of diagnosis was 150 days and median diagnostic delay was 75 days with no significant difference throughout the decades. Unilateral cases presented symptoms and were diagnosed significantly later than bilateral cases. Conclusion We provide unique nation‐based information on the incidence of PCG from a single country covering 40 years. Male gender was a risk factor. Diagnostic delay was unchanged throughout the 4 decades and a high percentage of comorbidity was revealed. Introducing a standardized paediatric screening of all PCG children should be considered.

Long‐term success after trabeculotomy in primary congenital glaucoma – a study with up to 35 years follow‐up

“…Others have found that more severely affected children have an increased risk of failure (Al-Hazmi et al 2005) and that boys are at greater risk of failure than girls (Hassanein et al 2018). The prevalence of PCG has been reported to be higher in boys by many studies (McGinnity et al 1987;de Silva et al 2011;Suri et al 2015) including in our population (Pedersen et al 2019). The exact mechanism by which male gender could influence both the risk of PCG and the risk of failure of trabeculotomy is, however, unknown.…”

“…Medical charts were retrieved from the different hospitals in Denmark, reviewed and evaluated to verify the diagnosis of PCG and to retrieve relevant medical information. The study cohort has been described previously in detail (Pedersen et al 2019).…”

“…Primary congenital glaucoma (PCG) is a rare disorder affecting 4.8 liveborn per 100,000 in nonconsanguineous populations (Pedersen et al 2019). Primary congenital glaucoma (PCG) is caused by an arrested development of the anterior angle and trabecular meshwork leading to an obstruction of the outflow of aqueous humour (Ko et al 2015).…”

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

“…The incidence widely varies depending on the origin of the cohort and the classification of the type of glaucoma (see childhood glaucoma research network, CGRN [ 1 ]). Previous reports from western countries found incidences of primary congenital glaucoma (PCG) ranging from 1:10,000 to 1:40,000 births [ 2 , 3 ] whereas it is higher in countries where consanguine marriage is more common. Thus, in Saudi Arabia the incidence was reported 1:2500 [ 4 ], and the highest incidence of 1:1250 was found in a cohort of Slovakian Romani people [ 5 ].…”

Updates on the molecular genetics of primary congenital glaucoma (Review)

“…In addition, PCG is common, with a prevalence of >32% in children who suffer from glaucoma ( 7 ). The overall incidence of PCG in Denmark is 4.8 in 100,000 live births ( 8 ).…”