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Aetiology of congenital and paediatric cataract in an Australian population
M G Wirth1, I M Russell-Eggitt, J E Craig
1Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.
Insights
Paediatric cataract affects 2.2 in 10,000 births, with over 18% having a family history. Early diagnosis and genetic research are crucial for understanding childhood blindness causes.
Area of Science:
- Ophthalmology
- Genetics
- Paediatrics
Background:
- Paediatric cataract is a significant cause of childhood blindness.
- Genetic factors play a role in congenital and paediatric cataracts.
- Understanding the epidemiology and inheritance patterns is essential.
Purpose of the Study:
- To determine the incidence of paediatric cataract in a specific population.
- To investigate the proportion of hereditary cataracts and their modes of inheritance.
- To describe the clinical presentation of paediatric cataracts.
Main Methods:
- Retrospective review of medical histories of paediatric cataract patients over 25 years.
- Inclusion of patients from major children's hospitals in south eastern Australia.
- Clinical examination and DNA collection from families with hereditary cataracts.
Main Results:
- An estimated incidence of 2.2 per 10,000 births was found.
- Over 18% of paediatric cataract cases had a positive family history.
- Autosomal dominant inheritance was the most common mode in hereditary cases (30/39 families).
Conclusions:
- Approximately half of paediatric cataract patients are diagnosed within the first year of life.
- Hereditary factors are significant, with over 18% of cases showing a family history.
- Identifying causative genes may elucidate the etiology of sporadic and unilateral cataracts.
Background/Aim:
Paediatric cataract is a major cause of childhood blindness. Several genes associated with congenital and paediatric cataracts have been identified. The aim was to determine the incidence of cataract in a population, the proportion of hereditary cataracts, the mode of inheritance, and the clinical presentation.
Methods:
The Royal Children's Hospital and the Royal Victorian Eye and Ear Hospital have a referral base for almost all paediatric patients with cataracts in south eastern Australia. The database contains cases seen over the past 25 years. The medical histories of these patients were reviewed.
Results:
421 patients with paediatric cataract were identified, which gives an estimated incidence of 2.2 per 10,000 births. Of the 342 affected individuals with a negative family history, 50% were diagnosed during the first year of life, and 56/342 (16%) were associated with a recognised systemic disease or syndrome. Unilateral cataract was identified in 178/342 (52%) of sporadic cases. 79 children (from 54 nuclear families) had a positive family history. Of these 54 families, 45 were recruited for clinical examination and DNA collection. Ten nuclear families were subsequently found to be related, resulting in four larger pedigrees. Thus, 39 families have been studied. The mode of inheritance was autosomal dominant in 30 families, X linked in four, autosomal recessive in two, and uncertain in three. In total, 178 affected family members were examined; of these 8% presented with unilateral cataracts and 43% were diagnosed within the first year of life.
Conclusions:
In the paediatric cataract population examined, approximately half of the patients were diagnosed in the first year of life. More than 18% had a positive family history of cataracts. Of patients with hereditary cataracts 8% presented with unilateral involvement. Identification of the genes that cause paediatric and congenital cataract should help clarify the aetiology of some sporadic and unilateral cataracts.
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