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Ochronosis - External and Internal Eye
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Ochronosis - External and Internal Eye

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Contributors: Belinda Tan MD, PhD, Brandon D. Ayres MD, Christopher Rapuano MD, Harvey A. Brown MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS
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Synopsis

Ochronosis (or alkaptonuria) is a rare inherited, recessive metabolic disorder due to a deficiency of homogentisic acid oxidase, resulting in accumulation of homogentisic acid in body tissues. Clinical features include darkening of urine on standing, blue-black discoloration of cartilage and connective tissues, and gradual development of arthritis. Life expectancy is normal. The incidence is equal between sexes, and it is seen in all races.

Symptoms and signs do not generally appear until adulthood, although the urine discoloration is usually noted in infancy.

Exogenous ochronosis mimics alkaptonuria and can occur from exposure to several drugs and chemicals (eg, topical phenols, hydroquinone, or carbolic acid and ingestion of antimalarials).

For more information on alkaptonuria, see OMIM.

Codes

ICD10CM:
E70.29 – Other disorders of tyrosine metabolism

SNOMEDCT:
360381004 – Alkaptonuria

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Last Updated: 03/29/2017
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Ochronosis - External and Internal Eye
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Ochronosis : Dark urine, Bulbar conjunctiva pigmented macule, Dusky color, Eyelids, Female genital, Hyperpigmented patch, Joint stiffness, Male genital, Sclera/bulbar conjunctiva color change, Arthralgia, Cheeks
Clinical image of Ochronosis
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