Morantes, S;
Evans, CJ;
Valencia, AV;
Davidson, AE;
Hardcastle, AJ;
Linares, AR;
Tuft, SJ;
(2016)
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.
Cornea
, 35
(8)
pp. 1141-1146.
10.1097/ICO.0000000000000895.
Preview |
Text
Hardcastle_Morantes_Distrofia et al. final draft.pdf Download (19MB) | Preview |
Abstract
PURPOSE: To describe the clinical signs of gelatinous drop-like corneal dystrophy (GDLD) in a consanguineous Colombian family and determine the underlying genetic cause. METHODS: We performed ocular examination of available family members and bidirectionally Sanger sequenced the GDLD-associated gene, TACSTD2. In one individual, the presence of subepithelial amyloid was confirmed with biopsy. RESULTS: The parents were consanguineous and 5 of their 10 children had GDLD. Typical mulberry subepithelial deposits with subepithelial vascularization were present in 3 individuals; 2 individuals only had mild polymorphic anterior stromal opacity. We identified a homozygous TACSTD2 missense mutation, c.551A>G, p.(Tyr184Cys), in the affected family members. Both parents were heterozygous for the mutation, and unaffected siblings were either heterozygous or homozygous wild-type for this allele. In the Colombian population, this mutation has a minor allele frequency of 0.53%. CONCLUSION: The clinical presentation of GDLD in this family was variable and does not solely support an age-dependent progression of the phenotype, suggesting that environmental or other genetic factors can modify phenotypic expression. The relatively high prevalence of this mutation in the Colombian population suggests that other individuals may have undiagnosed subclinical disease.
| Type: | Article |
|---|---|
| Title: | Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1097/ICO.0000000000000895 |
| Publisher version: | http://dx.doi.org/10.1097/ICO.0000000000000895 |
| Language: | English |
| Additional information: | Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. This manuscript version is published under a Creative Commons Attribution–Non-Commercial (CC BY-NC). Access may be initially restricted by the publisher. the final published version of record can be found at http://dx.doi.org/10.1097/ICO.0000000000000895. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Ophthalmology, gelatinous drop-like corneal dystrophy, primary familial amyloidosis of the cornea, hereditary corneal dystrophies, corneal amyloidosis, follow-up, amyloidosis, mutations |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1496294 |
Archive Staff Only
 |
View Item |
