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Alkaptonuria: A case report.

Nirupama Damarla1, Prathima Linga1, Mallika Goyal1

  • 1Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India.

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Summary
This summary is machine-generated.

Alkaptonuria, a rare metabolic disorder, causes homogentisic acid buildup, leading to ochronosis. This case highlights unusual retinal findings in an Indian male with this condition.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Ophthalmology

Background:

  • Alkaptonuria is a rare autosomal recessive metabolic disorder caused by homogentisate 1,2-dioxygenase deficiency.
  • This leads to the accumulation of homogentisic acid, causing ochronosis (bluish-black discoloration) in connective tissues.

Observation:

  • The case report details a 39-year-old Indian male patient diagnosed with Alkaptonuria.
  • The patient presented with typical ocular manifestations, including conjunctival, corneal, and scleral discoloration.

Findings:

  • This report documents novel and additional ocular features observed in the retina of the patient.
  • These retinal findings represent an atypical presentation of Alkaptonuria.

Implications:

  • Understanding these additional retinal manifestations can improve the diagnosis and management of Alkaptonuria.
  • This case expands the known spectrum of ocular involvement in this rare metabolic disease.