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Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study
Corentin Maillet1, Lucie Guilbaud1, Isabelle Monier2
1Department of Fetal Medicine, Sorbonne University, AP-HP Sorbonne University, Trousseau Hospital, Paris, France.
Insights
Congenital eye anomalies (CEAs) affect 4.1 per 10,000 births, with a 23.5% prenatal diagnosis rate. Isolated CEAs have a lower detection rate of 13.3%.
Area of Science:
- Ophthalmology
- Medical Genetics
- Public Health
Background:
- Congenital eye anomalies (CEAs) represent a significant public health concern.
- Understanding the prevalence and diagnostic trends of CEAs is crucial for early intervention and management.
- Previous studies have varied in scope and geographical focus.
Purpose of the Study:
- To estimate the prevalence and temporal trends of congenital eye anomalies (CEAs) over a decade.
- To determine the rate of prenatal diagnosis for CEAs and its evolution.
- To analyze the characteristics of CEAs, including laterality and associated anomalies.
Main Methods:
- A retrospective, population-based registry study was conducted in Paris, France, from 2010 to 2020.
- Data included live births, stillbirths after 22 weeks gestation, and pregnancy terminations.
- Prevalence was calculated using 95% Poisson exact confidence intervals.
Main Results:
- The overall prevalence of CEAs was 4.1 cases per 10,000 births.
- CEAs were prenatally diagnosed in 23.5% of all cases.
- Prenatal diagnosis rates varied significantly: 29.2% for CEAs with genetic anomalies, 26.2% for those with extraocular anomalies, and 13.3% for isolated CEAs.
Conclusions:
- The study identified a prevalence of 4.1 CEAs per 10,000 births over the 10-year period.
- The overall prenatal detection rate for CEAs was 23.5%.
- A notable disparity exists in prenatal detection rates, with isolated CEAs being significantly underdiagnosed prenatally (13.3%).
Objective:
To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period.
Design:
Retrospective population-based registry study.
Setting:
All maternity units in Paris, France, from 2010 to 2020.
Population:
A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy.
Methods:
The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals.
Main Outcome Measures:
The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution.
Results:
The prevalence of CEAs was 4.1 (95% CI 3.4-5.0) cases, ranging between 3.1 and 5.7 cases, per 10 000 births. CEAs were prenatally diagnosed in 23.5% of cases. CEAs were bilateral in 51 cases (44.3%), unilateral in 43 cases (37.4%) and missing or unknown in 21 cases (18.3%). Of those with CEAs, 20.9% had genetic anomalies and 53.0% had at least one other extraocular anomaly. When detected prenatally, CEAs were bilateral in 15 cases (55.6%), unilateral in eight cases (29.6%) and missing in the four remaining cases. The prenatal diagnosis rate of CEAs associated with genetic anomalies, CEA cases with at least one other malformation and isolated CEA cases were 29.2%, 26.2% and 13.3%, respectively.
Conclusions:
In total, 115 cases of CEAs were observed during the study period, representing a total prevalence of 4.1 cases per 10 000 births. The overall prenatal detection rate of CEAs in our population was 23.5%, which dropped to 13.3% for isolated cases of CEAs.
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