SUTURAL CATARACT, RETINITIS-PIGMENTOSA, MICROCEPHALY AND PSYCHOMOTOR RETARDATION - A NEW AUTOSOMAL RECESSIVE DISORDER

We report four children (three sibs and one sporadic case) with congen ital sutural cataract (opacity of the sutures of the crystalline lens) , retinitis pigmentosa (leading to diminished visual acuity), microcep haly, 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 II-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 case s, retinitis pigmentosa became evident during middle or late childhood . Congenital cataract has been described in association with a large n umber of various congenital abnormalities, such as renal, nervous syst em, skeletal, dermal and ocular (including retinal) defects. A compute r-assisted literature search has not revealed similar cases to those p resented here. The cases described here appear to have a previously un described 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.