Open AccessAlkaptonuria: A case report
Author(s) -
Nirupama Damarla,
Prathima Linga,
Mallika Goyal,
Sanjay Reddy Tadisina,
G. Satyanarayana Reddy,
Hymavathi Bommisetti
Publication year - 2017
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_337_16
Subject(s) - alkaptonuria , homogentisic acid , ochronosis , sclera , medicine , cornea , inborn error of metabolism , connective tissue , conjunctiva , dermatology , ophthalmology , pathology , biology , biochemistry
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.