title: Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder?
abstract: We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa (leading to diminished visual acuity), microcephaly, and moderate to severe psychomotor retardation. The three sibs (two F and one M) were born to healthy, consanguineous Moroccan parents; the sporadic case is an 11-year-old Dutch girl who presented at the age of nine months with a small head circumference (third percentile) and sutural cataract. Psychomotor development was retarded in all cases, retinitis pigmentosa became evident during middle or late childhood. Congenital cataract has been described in association with a large number of various congenital abnormalities, such as renal, nervous system, skeletal, dermal and ocular (including retinal) defects. A computer-assisted literature search has not revealed similar cases to those presented here. The cases described here appear to have a previously undescribed combination of ophthalmological and cerebral abnormalities. The inheritance of the condition appears to be autosomal recessive as a brother and two sisters (offspring of normal consanguineous parents) are affected. The differential diagnosis is discussed.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: P F
authors.initials: PF
authors.lastname: Ippel
authors.forename: D
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: B P
authors.initials: BP
authors.lastname: van Nesselrooij
authors.forename: J B
authors.initials: JB
authors.lastname: Bijlsma
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology