MUCOLIPIDOSIS TYPE-IV - PRESENTATION OF A MILD VARIANT

被引：19

作者：

CASTEELS, I ^{[1
]}

TAYLOR, DSI ^{[1
]}

LAKE, BD ^{[1
]}

SPALTON, DJ ^{[1
]}

BACH, G ^{[1
]}

机构：

[1] HOSP SICK CHILDREN,DEPT HISTOPATHOL,GREAT ORMOND ST,LONDON WC1N 3JH,ENGLAND

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1992年 / 13卷 / 04期

关键词：

MUCOLIPIDOSIS-IV; CORNEA-VERTICILLATA; CONJUNCTIVAL BIOPSY;

D O I：

10.3109/13816819209105168

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

The authors report a 16-year-old girl with mucolipidosis type IV. She was referred because of deteriorating vision over the past three years. Corneal clouding with the appearance of cornea verticillata and retinal dystrophy were the main ophthalmological findings. Except for clumsiness no psychomotor retardation was present. Ultrastructural analysis of a conjunctival biopsy and cultured fibroblasts suggested a diagnosis of mucolipidosis type IV which was confirmed by biochemical studies. This patient represents the mildest described presentation of mucolipidosis type IV.

引用

页码：205 / 210

页数：6

共 14 条

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