ArticleThe British journal of ophthalmology1999
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Article in The British journal of ophthalmology, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- On the ocular findings in ochronosis: a systematic review of literature.BMC ophthalmology · 2014Pooled it
- A temporal single cell transcriptome atlas of zebrafish anterior segment development.Scientific reports · 2023Article
- Alkaptonuria: A case report.Indian journal of ophthalmology · 2017Article
- In Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis.Case reports in ophthalmological medicine · 2015Article
- [A 69-year-old patient with brown-black pigmentation of the sclera].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2011Article
- An update on molecular genetics of Alkaptonuria (AKU).Journal of inherited metabolic disease · 2011Article
- Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.Human mutation · 2009Article
- High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.American journal of human genetics · 2000Article
- A late and difficult diagnosis of ochronosis.Journal of medicine and lifeArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea.
methodsA mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide primers flanking all 14 exons of the HGO gene. Fragments showing aberrant mobility were directly sequenced.
resultsTwo homozygous missense mutations, L25P and M368V, were identified, each of which leads to the replacement of a highly conserved amino acid in the HGO protein.
conclusionsThe authors describe a novel mutation, L25P, in the German population and bring to 18 the total number of known HGO mutations.
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Registered trials
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