Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

Mejía-Turizo, Juan Carlos; Rojas-Múnera, Sebastián; Orrego-Betancur, Sebastián Reinaldo; Franco-Echeverri, Carlos Mario; Arango-Simoni, Kevin

doi:10.17533/udea.iatreia.v30n3a05

Cited by 2 publications

(3 citation statements)

References 45 publications

(42 reference statements)

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“…Accumulation impairs multisystemic functions and produces great damages that can lead to early death of the patients [38,39,40]. Gaucher disease is the most common LSD affecting all ethnicities, with a frequency of 1:40,000 to 1:100,000 live births; while Ashquenazi Jewish can have frequencies between 1:1, 200 to 1:2,000 live births [39,41,42]. However, no incidences have been reported for Gaucher disease in Colombia, and it was not among the top 20 rare diseases in the last SIVIGILA report [17,18].…”

Section: Gaucher Diseasementioning

confidence: 99%

“…Lastly, Gaucher disease type III is the chronic neuronopathic form with an onset in infancy or adolescence. Patients show hepatosplenomegaly, myoclonus, dementia, and oculomotor apraxia [38,39,40,42,43]. Mejía--Turizo et al, reported the first case in Colombia of a Gaucher disease type III patient with vitreous condensation and macular edema [42].…”

Section: Gaucher Diseasementioning

confidence: 99%

“…In 2010 velaglucerase-alfa (Vpriv®) was approved, an enzyme produced in human fibroblast cell lines. In 2012, the FDA approved talilglucerase alfa (Elelyso®), which is produced in carrot cells [42]. Evaluation of miglucerase in Colombian Gaucher patients was reported by Lozano [40], showing amelioration of hematological and biochemical manifestations .…”

Section: Gaucher Diseasementioning

confidence: 99%

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A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez

Lerma-Barbosa

Garzón-Jaramillo

et al. 2020

Heliyon

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Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysosomal environment. Significant advances have been achieved in the diagnosis, management, and treatment of LSDs patients. In terms of approved therapies, these include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and pharmacological chaperone therapy. In this review, we summarize the Colombian experience in LSDs thorough the evidence published. We identified 113 articles published between 1995 and 2019 that included Colombian researchers or physicians, and which were mainly focused in Mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. Most of these articles focused on basic research, clinical cases, and mutation reports. Noteworthy, implementation of the enzyme assay in dried blood samples, led to a 5-fold increase in the identification of LSD patients, suggesting that these disorders still remain undiagnosed in the country. We consider that the information presented in this review will contribute to the knowledge of a broad spectrum of LSDs in Colombia and will also contribute to the development of public policies and the identification of research opportunities.

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Section: Gaucher Diseasementioning

confidence: 99%

Section: Gaucher Diseasementioning

confidence: 99%

Section: Gaucher Diseasementioning

confidence: 99%

See 1 more Smart Citation

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez

Lerma-Barbosa

Garzón-Jaramillo

et al. 2020

Heliyon

View full text Add to dashboard Cite

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Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

et al. 2019

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Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide. There are three principal forms: Type I, which is the most common, is usually considered non-neuronopathic. Type II, III and IIIc manifest earlier and have neurological sequelae due to markedly reduced enzyme activity. Gaucher’s can be associated with ophthalmological sequelae but these have not been systematically reviewed. We therefore performed a comprehensive literature review of all such ophthalmic abnormalities associated with the different types of Gaucher disease. We systematically searched the literature (1950 – present) for functional and structural ocular abnormalities arising in patients with Gaucher disease and found that all subtypes can be associated with ophthalmic abnormalities; these range from recently described intraocular lesions to disease involving the adnexae, peripheral nerves and brain. In summary, Gaucher can affect most parts of the eye. Rarely is it sight-threatening; some but not all manifestations are amenable to treatment, including with enzyme replacement and substrate reduction therapy. Retinal involvement is rare but patients with ocular manifestations should be monitored and treated early to reduce the risk of progression and further complications. As Gaucher disease is also associated with Parkinsons disease and may also confer an increased risk of malignancy (particularly haematological forms and melanoma), any ocular abnormalities should be fully investigated to exclude these potential underlying conditions.

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Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

Cited by 2 publications

References 45 publications

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

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