Descemet’s membrane folds in ochronosis: a case report

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Abstract

Background

We present this report of a new ophthalmic finding in a patient with ochronosis.

Case presentation

An 85-year-old Caucasian male patient with bilateral dark temporal and nasal pigmentation of conjunctiva and sclera was referred to our hospital owing to low visual acuity. On biomicroscopic examination, bilateral horizontal Descemet’s membrane folds were observed. Corneal tomography revealed irregular and asymmetric “against-the-rule” astigmatism in both eyes. Anterior segment optical coherence tomography demonstrated numerous central Descemet’s without edema or other corneal structure alterations.

Conclusion

This is the first report of Descemet’s membrane folds in ochronosis. These corneal findings suggest that the accumulation of homogentisic acid in the sclera leads to thickening and stiffness of this region. These alterations could remarkably decrease visual acuity owing to topographic corneal curvature alterations, especially in elderly patients.

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Most cited references 13

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Natural history of alkaptonuria.

Lynn Gerber, Marjan Huizing, A L Fitzpatrick … (2002)

Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria. We evaluated 58 patients with alkaptonuria (age range, 4 to 80 years), using clinical, radiographic, biochemical, and molecular methods. A radiographic scoring system was devised to assess the severity of spinal and joint damage. Two patients were treated with nitisinone for 10 and 9 days, respectively. Life-table analyses showed that joint replacement was performed at a mean age of 55 years and that renal stones developed at 64 years, cardiac-valve involvement at 54 years, and coronary-artery calcification at 59 years. Linear regression analysis indicated that the radiographic score for the severity of disease began increasing after the age of 30 years, with a more rapid increase in men than in women. Twenty-three new HGO mutations were identified. In a 51-year-old woman, urinary HGA excretion fell from 2.9 to 0.13 g per day after a 10-day course of nitisinone (7 days at a dose of 0.7 mg per day and 3 days at 2.8 mg per day). In a 59-year-old woman, urinary HGA fell from 6.4 g to 1.7 g per day after nine days of treatment with nitisinone (0.7 mg per day). Plasma tyrosine levels in these patients rose from approximately 1.1 mg per deciliter (60 micromol per liter) in both to approximately 12.8 mg per deciliter (700 micromol per liter) and 23.6 mg per deciliter (1300 micromol per liter), respectively, with no clinical signs or symptoms. The reported data on the natural history of alkaptonuria provide a basis for the evaluation of long-term therapies. Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation. Copyright 2002 Massachusetts Medical Society

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New developments in ochronosis: review of the literature.

J. Keller, O A Nercessian, Laurinda Jaffe … (2005)

Ochronosis commonly affects all connective tissue. Recognition of changes secondary to the deposition of ochronotic pigments has increased with advances in diagnostic technology, allowing both improved imaging and early biochemical and genetics-based diagnosis of alkaptonuria, the cause of ochronosis. Successful symptomatic treatment of ochronotic arthropathy with joint replacement has been documented, and a new pharmacotherapeutic agent, nitisinone, is currently under investigation for both prevention and treatment of ochronosis. This review of the literature highlights recently recognized complications, new diagnostic techniques, and treatment options.

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Endogenous ochronosis: case report and a systematic review of the literature.

Nadia Kerkeni, Aida Khaled, Mohamed Ridha Kamoun … (2011)

Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues, giving them a deep dark blue pigmentation. Through a new Tunisian case of EO and a review of the literature, we aimed to define the epidemioclinical features of EO, its diagnostic criteria, and evolution. Three hundred and forty patients were enrolled through 54 articles and four abstracts. A 35-year-old woman, born in consanguineous parents, presented with blue-grey patches of fingernails, first interdigital spaces, and ears with brown conjunctival pigmentation. Urine specimen turned dark on standing overnight. The diagnosis of EO was confirmed by urinary high levels of HGA. Investigations revealed radiologic signs of ochronotic arthropathy. EO is ubiquitary. Its prevalence was estimated at almost 6.5 cases/year. The mean age at diagnosis was 55.9 years (M/F: 1.85). Onset symptoms mainly consisted in cutaneous signs. Ochronotic arthropathy was the most frequently reported manifestation. Treatment was mainly symptomatic. EO is often revealed in adulthood mainly after the fourth decade. Urinary darkening is the first sign of the disease but is rarely reported as an onset sign. Skin signs are the alerting features. Ochronotic arthropathy is insidious but may be debilitating. No specific medical treatment of EO is available. Cutaneous manifestations are the hallmarks of OE. As vital organ involvement has been reported, close monitoring and continuous surveillance is warranted. © 2011 The International Society of Dermatology.

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Author and article information

Contributors

Otavio de Azevedo Magalhaes:

ORCID: http://orcid.org/0000-0002-9429-2109

otaviomaga@yahoo.com.br

Journal

Journal ID (nlm-ta): J Med Case Rep

Journal ID (iso-abbrev): J Med Case Rep

Title: Journal of Medical Case Reports

Publisher: BioMed Central (London )

ISSN (Electronic): 1752-1947

Publication date (Electronic): 2 October 2022

Publication date PMC-release: 2 October 2022

Publication date Collection: 2022

Volume: 16

Electronic Location Identifier: 351

Affiliations

[1 ]GRID grid.411249.b, ISNI 0000 0001 0514 7202, Department of Ophthalmology, , Federal University of São Paulo (UNIFESP), ; São Paulo, Brazil

[2 ]Porto Alegre Eye’s Bank Hospital, 285 Walter Boehl Street, 333 Mostardeiro St., Office 503, Porto Alegre, Rio Grande do Sul Brazil

Author information

Otavio de Azevedo Magalhaes http://orcid.org/0000-0002-9429-2109

Article

Publisher ID: 3599

DOI: 10.1186/s13256-022-03599-x

PMC ID: 9526938

PubMed ID: 36183119

SO-VID: 23014711-0a45-4af3-8351-c14b14bcc0a0

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 22 March 2022

Date accepted : 4 September 2022

Custom metadata

ScienceOpen disciplines: Medicine

Keywords: alkaptonuria,ochronosis,scleral stiffness,descemet’s membrane folds,case report

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ScienceOpen disciplines: Medicine

Keywords: alkaptonuria, ochronosis, scleral stiffness, descemet’s membrane folds, case report

Descemet’s membrane folds in ochronosis: a case report

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Abstract

Background

Case presentation

Conclusion

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Most cited references 13

Natural history of alkaptonuria.

New developments in ochronosis: review of the literature.

Endogenous ochronosis: case report and a systematic review of the literature.

Author and article information

Contributors

Journal

Affiliations

Author information

Article

History

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