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Yi Zhai, Matthew Benson, Ian M MacDonald; Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3023.
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© ARVO (1962-2015); The Authors (2016-present)
In order to expand our understanding of the phenotype caused by ELOVL4 mutations, we report a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with corneal involvement.
A single observational case report. Multimodal imaging of the anterior segment including anterior segment optical coherence tomography (OCT), corneal topography, and slit lamp photography was performed. Spectral domain OCT, fundus autofluorescence, and fundus photography were performed to evaluate the posterior segment. Whole exome sequencing was used to identify the pathogenic mutation.
Whole exome sequencing confirmed a previously identified heterozygous mutation in ELOVL4 (c.790_794del, p.Asn264Leufs*9). The retinal images showed bilateral, symmetric atrophic lesions in the maculae, which is typical in STGD3. Anterior segment examination revealed a bilateral, circumferential, superficial corneal translucency that spared the central cornea. Fine vessels were seen growing from the limbal borders into the cornea.
This is the first report of a STGD3 patient diagnosed with an unusual keratopathy. This provides a new perspective for us to understand the ELOVL4 function. Patients diagnosed with STGD3 may benefit from anterior segment OCT and an evaluation of tear film stability.
This is a 2020 ARVO Annual Meeting abstract.
Figure 1. Slit-lamp photographs of both eyes (A) demonstrating a bilateral, circumferential, superficial corneal translucency which spares the central cornea. External infrared images by anterior segment OCT of both eyes (B) showing fine vessels growing from the limbal borders into the cornea (yellow arrows). Horizontal anterior segment OCT scans of right temporal cornea (C) and left temporal cornea (D) showing hyperreflective areas (yellow arrows) within the anterior corneal stroma. Vertical scan of the left cornea (E) demonstrating that only the central 3.5 mm of the cornea is unaffected.
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