Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

Morantes, Sara; Evans, Cerys J.; Valencia, A.; Davidson, Alice E.; Hardcastle, Alison J.; Ruiz-Linares, Andrés; Tuft, Stephen; Cuevas, Miguel

doi:10.1097/ico.0000000000000895

Cited by 4 publications

(2 citation statements)

References 22 publications

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“…Colombia is classified as an upper‐middle income country, and this study found that genetic tests are available in 42.4% of patients for this group, compared with 96.4% in high‐income countries (Global Retinoblastoma Study Group, Fabian, & Abdallah, 2020). A novel genetic disorder related to TAF1 mutations was described in a Colombian family with a new recognizable hereditary syndrome (O'Rawe, Wu, & Dörfel, 2015), and other manuscripts report cases of oculocutaneous albinism, X‐linked retinoschisis, gelatinous drop‐like corneal dystrophy, and Fabry disease (Mendoza‐Londono, Hiriyanna, & Bingham, 1999; Morantes et al, 2016; Rothstein et al, 2019; Sanabria, Groot, Guzmán, & Lattig, 2012). A case report describes findings in a Colombian family with 9 of 22 members affected by Criswick‐Schepens syndrome (Nicholson & Galvis, 1984).…”

Section: Introductionmentioning

confidence: 99%

Ophthalmic genetics in South America

Varela

Moya

Schlottmann³

et al. 2020

American J of Med Genetics Pt C

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South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.

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Section: Introductionmentioning

confidence: 99%

Ophthalmic genetics in South America

Varela

Moya

Schlottmann³

et al. 2020

American J of Med Genetics Pt C

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“…Finally, in the third decade, there is secondary stromal opacification and neovascularisation, resulting in severe visual loss. 8 Our patients started to feel their eyesight was impaired since they were in elementary school. Since then, there were no therapy or procedures have been conducted.…”

Section: Discussionmentioning

confidence: 91%

The Occurrences of Gelatinous Drop-Like Corneal Dystrophy within an Acehnese Family

Cut Putri Samira,

Muhammad Khalil Akbar,

Islami

2024

J. Oftalmologi

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Introduction: Gelatinous drop-like dystrophy (GDLD) presents as an infrequent form of corneal dystrophy characterized by an autosomal recessive inheritance pattern. While its incidence in Japan stands at roughly 1 in 33,000 individuals, it manifests less frequently in other populations. Surgical intervention, such as lamellar or penetrating keratoplasty is typically necessary to relieve symptoms Objective: To describe 3 cases of Gelatinous drop-like dystrophy and their treatment approaches Illustration: Three brothers were diagnosed with corneal dystrophy, marked by a white-yellow nodular lesion resembling a kumquat on the corneal surface. Each patient exhibited light perception with good projection in terms of visual acuity. All underwent full-thickness lamellar keratoplasty for treatment. A month post-surgery, their visual acuity had improved to 3/60, 2/60, and 2/60, respectively. Conclusion: GDLD is a rare corneal condition associated with potential vision loss. Identification through familial history, corneal clinical features and involvement contributes to diagnosing GDLD. Full-thickness penetrating keratoplasty may be considered for managing significant visual impairment resulting from GDLD Keywords: corneal dystrophy, full-thickness penetrating keratoplasty, gelatinous drop-like

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Cornea and Sclera

Yanoff¹,

Sassani²

2020

Ocular Pathology

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Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

Cited by 4 publications

References 22 publications

Ophthalmic genetics in South America

Ophthalmic genetics in South America

The Occurrences of Gelatinous Drop-Like Corneal Dystrophy within an Acehnese Family

Cornea and Sclera

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