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Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity
C I Phillips1, A M Levy, M Newton
1Department of Ophthalmology, University of Edinburgh.
Insights
Nearly half of childhood blindness cases in this study were hereditary, highlighting the importance of genetic factors. Early genetic counseling could potentially prevent a small fraction of these vision impairments.
Area of Science:
- Ophthalmology
- Pediatrics
- Medical Genetics
Background:
- Childhood blindness presents a significant challenge, with diverse etiologies.
- Understanding the causes of vision impairment in children is crucial for effective management and prevention strategies.
Purpose of the Study:
- To investigate the etiological factors contributing to blindness in a cohort of children attending the Royal Blind School in Edinburgh.
- To determine the prevalence of hereditary causes of childhood blindness and assess the potential impact of genetic counseling.
Main Methods:
- Retrospective analysis of the medical records of 99 children with blindness.
- Categorization of blindness based on diagnosis, including optic atrophy, congenital cataract, and retinopathy of prematurity.
- Assessment of hereditary factors based on clinical judgment and family history.
Main Results:
- Optic atrophy was the most frequent diagnosis (15 children), with various underlying causes including hydrocephalus and prematurity.
- Congenital cataract (14 children) and congenital retinal aplasia (12 children) were also significant contributors.
- Approximately 48% of cases were attributed to hereditary factors, predominantly autosomal recessive conditions, with an estimated 11 cases potentially preventable by genetic counseling.
Conclusions:
- Hereditary factors play a substantial role in childhood blindness, underscoring the need for genetic evaluation.
- While many causes are not preventable, genetic counseling offers a potential avenue for reducing the incidence of certain hereditary visual impairments.
- Associated conditions like mental retardation, spasticity, and nystagmus frequently co-occurred with blindness across diagnostic categories.
Abstract:
Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.