TYPE-1 HYPERPROLINEMIA IN A FAMILY SUFFERING FROM ANIRIDIA AND SEVERE DYSTROPHIA OF OCULAR TISSUES

被引：5

作者：

FUSCO, G

CARLOMAGNO, S

ROMANO, A

RINALDI, E

CEDROLA, G

CIANCIARUSO, L

CURTO, A

ROSOLIA, S

AURICCHIO, G

机构：

[1] UNIV NAPLES, SCH MED, INST OPHTHALMOL, I-80134 NAPLES, ITALY

[2] UNIV NAPLES, SCH MED, INST NERVOUS & SENSORY ORGAN DIS, I-80134 NAPLES, ITALY

来源：

OPHTHALMOLOGICA | 1976年 / 173卷 / 01期

关键词：

D O I：

10.1159/000307812

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

An Italian family affected with type I hyperprolinemia and an ocular syndrome characterized by aniridia and severe dystrophia of ocular tissues was studied. In the propositus the ocular syndrome was associated with severe mental deterioration and muscular spasticity.

引用

页码：1 / 10

页数：10

共 7 条

[1] FAMILIAL HYPERPROLINEMIA - REPORT OF A 2ND CASE ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION WITH DEMONSTRATION OF AN ENZYME DEFECT [J].