Aetiology of congenital and paediatric cataract in an Australian population

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.

Global prevalence of childhood cataract: a systematic review

“…Incidence studies included in this review were conducted in Sweden, 35 Denmark, 36 the UK, 37 and Australia. 38 These are all high-income economies; we found no incidence studies based in low-to middleincome economies.…”

“…Incidence was reported in four studies [35][36][37][38] and ranged from 1.8 to 3.6 per 10 000 per annum. Laterality was reported in two of these studies 35,37 and gender breakdown was reported in three studies.…”

“…Twenty studies reported data on prevalence [15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34] and four studies reported incidence. [35][36][37][38] The included studies represented five geographical regions including Europe and Central Asia (n = 8), South Asia (n = 3), East Asia and Pacific (n = 8), Sub-Saharan Africa (n = 3), and North America (n = 2).…”

A case of bilateral developmental cataract with non-syndromic cyanotic congenital heart disease

“…However, there is no mention of unilaterality or bilaterality in the series. Wirth,9 in his series of 29 congenital cataract cases, found Down's syndrome in 62% of cases.…”

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

“…These include TORCH screen, karyotyping, urinalysis for reducing agents and organic amino acids, measurement of plasma galactokinase levels and basic blood tests (such as full-blood count and liver function tests). 3 Despite the publication of several care pathways guiding management and investigation of CC, 2,3 the proportion of cases of bilateral CC in which the underlying cause was identified has been shown in the past to be low. Multiple professionals are often involved, with many appointments and investigations needed as part of the traditional care pathway of the child with cataract.…”