Alkaptonuria: A case report

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 conjunc...

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Detalles Bibliográficos
Autores principales: Damarla, Nirupama, Linga, Prathima, Goyal, Mallika, Tadisina, Sanjay Reddy, Reddy, G Satyanarayana, Bommisetti, Hymavathi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508465/
https://www.ncbi.nlm.nih.gov/pubmed/28643719
http://dx.doi.org/10.4103/ijo.IJO_337_16
Descripción
Sumario: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.

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