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.
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.
Authors: D Gill; R Klose; F L Munier; M McFadden; M Priston; G Billingsley; N Ducrey; D F Schorderet; E Héon Journal: Invest Ophthalmol Vis Sci Date: 2000-01 Impact factor: 4.799
Authors: P L Kramer; D LaMorticella; K Schilling; A M Billingslea; R G Weleber; M Litt Journal: Invest Ophthalmol Vis Sci Date: 2000-01 Impact factor: 4.799
Authors: C J Hammond; D D Duncan; H Snieder; M de Lange; S K West; T D Spector; C E Gilbert Journal: Invest Ophthalmol Vis Sci Date: 2001-03 Impact factor: 4.799
Authors: E V Semina; R E Ferrell; H A Mintz-Hittner; P Bitoun; W L Alward; R S Reiter; C Funkhauser; S Daack-Hirsch; J C Murray Journal: Nat Genet Date: 1998-06 Impact factor: 38.330
Authors: Michèle M Sale; Jamie E Craig; Jacinta C Charlesworth; Liesel M FitzGerald; Isabel M Hanson; Joanne L Dickinson; Sarah J Matthews; Veronica van Heyningen Vv; John H Fingert; David A Mackey Journal: Hum Mutat Date: 2002-10 Impact factor: 4.878
Authors: J D McKay; B Patterson; J E Craig; I M Russell-Eggitt; M G Wirth; K P Burdon; A W Hewitt; A C Cohn; Y Kerdraon; D A Mackey Journal: Br J Ophthalmol Date: 2005-07 Impact factor: 4.638
Authors: M Musleh; G Hall; I C Lloyd; R L Gillespie; S Waller; S Douzgou; J Clayton-Smith; E Kehdi; G C M Black; J Ashworth Journal: Eye (Lond) Date: 2016-06-17 Impact factor: 3.775
Authors: Tim Forshew; Colin A Johnson; Shagufta Khaliq; Shanaz Pasha; Catherine Willis; Rashida Abbasi; Louise Tee; Ursula Smith; Richard C Trembath; Syed Qasim Mehdi; Anthony T Moore; Eamonn R Maher Journal: Hum Genet Date: 2005-06-16 Impact factor: 4.132