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Prevalence of tapeto-retinal dystrophies among Danish children
1National Eye Clinic for the Visually Impaired, Hellerup, Denmark.
Insights
Pigmentary retinopathy (RP) prevalence increases with age in Danish children. Autosomal recessive inheritance is most common, but X-linked forms and unidentified genetic causes are significant factors.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Pigmentary retinopathy (RP) is a group of inherited retinal diseases.
- Understanding the prevalence and genetic basis of RP in children is crucial for diagnosis and management.
Purpose of the Study:
- To determine the age-specific prevalence of pigmentary retinopathy in the Danish child population.
- To investigate the genetic and clinical characteristics of childhood RP cases.
Main Methods:
- Analysis of 110 notified cases of RP in Danish children recorded on January 1, 1988.
- Classification of cases into systemic and non-systemic types.
- Genetic analysis including inheritance patterns and parental consanguinity.
Main Results:
- A steep rise in age-specific RP prevalence was observed throughout infancy and childhood.
- Autosomal recessive inheritance was the most frequent genetic type (55%).
- Undetected carriers of X-linked tapeto-retinal dystrophy and unidentified genetic causes played a significant role.
Conclusions:
- Childhood pigmentary retinopathy exhibits increasing prevalence with age.
- Genetic factors, including autosomal recessive and X-linked inheritance, are key, with a notable proportion of unidentified genetic causes.
- Early infantile non-systemic RP cases with recessive or simplex inheritance are often cone-rod dystrophies.
Abstract:
Age specific prevalence rates are presented based on 110 cases of pigmentary retinopathy (RP) recorded in the Danish child population of a little over one million individuals on January 1, 1988. A steady and steep rise in age specific prevalences of notified RP throughout infancy and childhood was found. The material consisted in 52 non-systemic and 58 systemic cases. 35 of the systemic cases could be nosologically identified, leaving 23 cases unidentified with respect to known diseases or syndromes. Among the genetic types autosomal recessive inheritance was the most common with 60 cases (55%). Parental consanguinity was less frequent than hitherto reported. On the other hand undetected carrier state for X-linked tapeto-retinal dystrophy played a more significant role than expected. A clear excess of males among the simplex cases indicated that some X-linked cases may still be unrecognized. A significant proportion of non-systemic, early infantile RP with an autosomal recessive or simplex mode of inheritance are clinically and electrophysiologically characterised as cone-rod dystrophies.