ArticleIndian journal of ophthalmology2017
Alkaptonuria: A case report.
Article in Indian journal of ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Total Knee Arthroplasty in Alkaptonuric Patient With Ochronotic Arthropathy.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2026Article
- A shocking intraoperatively diagnosis of ochronotic knee arthropathy: a case report.Annals of medicine and surgery (2012) · 2024Article
- Article
- Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy.Molecules (Basel, Switzerland) · 2023Article
- A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings.Arquivos brasileiros de oftalmologia · 2023Article
- Total Knee Replacement in Alkaptonuric Ochronosis.Acta bio-medica : Atenei Parmensis · 2022Article
- HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase.Current research in structural biology · 2022Article
- Melanins as Sustainable Resources for Advanced Biotechnological Applications.Global challenges (Hoboken, NJ) · 2021Review
- [Black knee-ochronotic alterations in alkaptonuria].Der Unfallchirurg · 2019Article
- Ochronotic arthropathy-a rare clinical case.Oxford medical case reports · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Registered trials
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