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Prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children
Mette Bertelsen1, Hanne Jensen, Michael Larsen
1National Eye Clinic for the Visually Impaired, Kennedy Center, Glostrup, Denmark. mettebertelsen12@gmail.com
Insights
The prevalence of generalized retinal dystrophy in Danish children is 13 per 100,000, a significant increase from previous studies. This epidemiological survey highlights the need for further research and potential clinical interventions for these rare eye conditions.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Generalized retinal dystrophy (GRD) is a group of inherited eye diseases causing progressive vision loss.
- Understanding the prevalence and spectrum of GRD in pediatric populations is crucial for public health planning and research.
Purpose of the Study:
- To determine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children (aged 0-17 years).
- To provide updated epidemiological data on GRD in a national pediatric cohort.
Main Methods:
- A population-based cross-sectional study utilizing the Danish Registry for the Blind and Partially Sighted Children.
- Diagnosis of GRD was confirmed through chart review, fundus photography, and electroretinograms.
- Age-specific population data were obtained from Statistics Denmark.
Main Results:
- The prevalence of GRD in Danish children was found to be 13 per 100,000.
- Prevalence increased with age, with 43% of cases associated with syndromes and 57% as isolated eye disease.
- Autosomal recessive inheritance was the most common pattern, observed in 66% of affected children.
Conclusions:
- The prevalence of GRD in Danish children has increased significantly since 1988.
- Specific conditions like Leber congenital amaurosis and Usher syndrome have doubled in prevalence.
- These findings underscore the importance of epidemiological data for assessing future treatment needs and guiding clinical intervention trials.
Purpose:
The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children.
Methods:
The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired children residing in Denmark aged 0-17 years. Among registered children, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Age-specific data for live children in Denmark were retrieved from Statistics Denmark.
Results:
Of the 1,204,235 Danish children aged 0-17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently with increasing age. In 43% of the children the eye condition was part of a syndrome, while the remaining 57% had eye disease only. The most common hereditary pattern was autosomal recessive (99 children, 66%).
Conclusions:
This epidemiological survey demonstrates that the prevalence of generalized retinal dystrophy in Danish children is 13 per 100,000, which is a considerable increase compared to the 9.8 per 100,000 reported by Rosenberg in 1988. The prevalence of Leber congenital amaurosis, Usher syndrome, and Bardet-Biedl syndrome doubled, which may be explained by a documented history of consanguinity in more than one third of the children. Many of the dystrophies are the subject of clinical intervention trials, and nation-wide epidemiological data can help assess the future need for treatment.
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