Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2002 Jul;86(7):782-6.
doi: 10.1136/bjo.86.7.782.

Aetiology of congenital and paediatric cataract in an Australian population

M G Wirth  1 , I M Russell-Eggitt, J E Craig, J E Elder, D A Mackey
Affiliations

Aetiology of congenital and paediatric cataract in an Australian population

M G Wirth et al. Br J Ophthalmol. 2002 Jul.

Abstract

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.

PubMed Disclaimer

References

    1. Thylefors B, Negrel AD, Pararajasegaram R, et al. Global data on blindness. Bull World Health Organ 1995;73:115–21. - PMC - PubMed
    1. Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75:497–504. - PubMed
    1. Blohme J, Tornqvist K. Visual impairment in Swedish children. III. Diagnoses. Acta Ophthalmol Scand 1997;75:681–7. - PubMed
    1. Stoll C, Alembik Y, Dott B, et al. Epidemiology of congenital eye malformations in 131,760 consecutive births. Ophthalmic Paediatr Genet 1992;13:179–86. - PubMed
    1. Gregg NM. Congenital cataract following German measles in the mother. Trans Ophthalmol Soc Aust 1941;3:35–46. - PubMed

Publication types