Alkaptonuria: A case report

被引：10

作者：

Damarla, Nirupama ^{[1
]}

Linga, Prathima ^{[1
]}

Goyal, Mallika ^{[1
]}

Tadisina, Sanjay Reddy ^{[1
]}

Reddy, G. Satyanarayana ^{[1
]}

Bommisetti, Hymavathi ^{[1
]}

机构：

[1] Apollo Inst Med Sci & Res, Dept Ophthalmol, Jubilee Hills, Hyderabad, Telangana, India

来源：

INDIAN JOURNAL OF OPHTHALMOLOGY | 2017年 / 65卷 / 06期

关键词：

Alkaptonuria; ochronosis; ocular manifestations of ochronosis; OCHRONOSIS;

D O I：

10.4103/ijo.IJO_337_16

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.

引用

页码：518 / +

页数：4

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