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

被引：4

作者：

IPPEL, PF

WITTEBOLPOST, D

VANNESSELROOIJ, BPM

BIJLSMA, JB

机构：

[1] Clinical Genetics Center Utrecht, University Hospital Utrecht, Utrecht

[2] Department of Ophthalmology, University Hospital Utrecht, Utrecht

来源：

OPHTHALMIC GENETICS | 1994年 / 15卷 / 3-4期

关键词：

SUTURAL CATARACT; RETINITIS PIGMENTOSA; MICROCEPHALY; PSYCHOMOTOR RETARDATION; GENETICS;

D O I：

10.3109/13816819409057838

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 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 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.

引用

页码：121 / 127

页数：7

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