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Long term follow-up of a family with GUCY2D dominant cone dystrophy

Long term follow-up of a family with GUCY2D dominant cone dystrophy
Long term follow-up of a family with GUCY2D dominant cone dystrophy
The aim of this manuscript is to describe long term follow-up in a family with GUC2YD dominant cone dystrophy. OCT scans (Triton/OCT-2000 Topcon Ltd, Tokyo, Japan) and Fundus Autofluorescence (FAF) images (Spectralis Heidelberg Engineering, Heidelberg, Germany) were obtained. Goldmann Visual Field (GVF) testing was utilised to monitor the progression of central field loss. Flash and pattern electroretinograms (ERG) and occipital pattern reversal VEPs (VEP) were recorded in accordance with International Society for Clinical Electrophysiology of Vision (ISCEV) standards. Two members of the same family (father and son) were identified to have the heterozygous R838C mutation in the GUC2YD gene. The father presented at the age of 45 with bilateral bull’s eye maculopathy and temporal disc pallor. Over 13 years of serial follow up visits, the bull’s eye maculopathy progressed gradually into macular atrophy. The cone ERGs and visual evoked potentials (VEP) were significantly degraded suggesting poor macular function. Spectral Domain Optical Coherence Tomography (SD-OCT) scans showed progressive loss and disruption of the ellipsoid layer at the foveal level. Autofluorescence showed a central annular area of hypo-autofluorescence corresponding to macular atrophy and retinal pigment epithelial (RPE) loss with a surrounding ring of hyper-autofluorescence indicating the transitional zone between the abnormal-normal tissue. Goldmann Visual Fields (GVFs) showed enlargement of a central scotoma. His son presented at the age of 16 with bilateral granular RPE changes in both maculae. Electrophysiological testing was initially borderline normal but has gradually deteriorated to show reduced cone ERGs and macula function. SD-OCT demonstrated gradual macular thinning and atrophy bilaterally. Unlike his father, there was no disruption of the ellipsoid layer. GVFs showed progression of central visual field loss. In conclusion, both family members with cone dystrophy exhibited gradual changes in their fundi, electrophysiological testing and multimodal imaging. Changes were milder than those observed in other mutations of the same gene.
2222-3959
1945-1950
Tsokolas, Georgios
13a8eec3-1eb7-4e76-8f04-e8e0a6d78f55
Almuhtaseb, Hussein
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Griffiths, Helen
a097fdaa-d3d6-49a9-9c69-0e6e5a5d518b
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Tsokolas, Georgios
13a8eec3-1eb7-4e76-8f04-e8e0a6d78f55
Almuhtaseb, Hussein
27fcdbb3-4784-483d-823c-c6dae6151578
Griffiths, Helen
a097fdaa-d3d6-49a9-9c69-0e6e5a5d518b
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Tsokolas, Georgios, Almuhtaseb, Hussein, Griffiths, Helen, Shawkat, Fatima, Pengelly, Reuben, Ennis, Sarah and Lotery, Andrew (2018) Long term follow-up of a family with GUCY2D dominant cone dystrophy. International Journal of Ophthalmology, 11 (12), 1945-1950. (doi:10.18240/ijo.2018.12.12).

Record type: Article

Abstract

The aim of this manuscript is to describe long term follow-up in a family with GUC2YD dominant cone dystrophy. OCT scans (Triton/OCT-2000 Topcon Ltd, Tokyo, Japan) and Fundus Autofluorescence (FAF) images (Spectralis Heidelberg Engineering, Heidelberg, Germany) were obtained. Goldmann Visual Field (GVF) testing was utilised to monitor the progression of central field loss. Flash and pattern electroretinograms (ERG) and occipital pattern reversal VEPs (VEP) were recorded in accordance with International Society for Clinical Electrophysiology of Vision (ISCEV) standards. Two members of the same family (father and son) were identified to have the heterozygous R838C mutation in the GUC2YD gene. The father presented at the age of 45 with bilateral bull’s eye maculopathy and temporal disc pallor. Over 13 years of serial follow up visits, the bull’s eye maculopathy progressed gradually into macular atrophy. The cone ERGs and visual evoked potentials (VEP) were significantly degraded suggesting poor macular function. Spectral Domain Optical Coherence Tomography (SD-OCT) scans showed progressive loss and disruption of the ellipsoid layer at the foveal level. Autofluorescence showed a central annular area of hypo-autofluorescence corresponding to macular atrophy and retinal pigment epithelial (RPE) loss with a surrounding ring of hyper-autofluorescence indicating the transitional zone between the abnormal-normal tissue. Goldmann Visual Fields (GVFs) showed enlargement of a central scotoma. His son presented at the age of 16 with bilateral granular RPE changes in both maculae. Electrophysiological testing was initially borderline normal but has gradually deteriorated to show reduced cone ERGs and macula function. SD-OCT demonstrated gradual macular thinning and atrophy bilaterally. Unlike his father, there was no disruption of the ellipsoid layer. GVFs showed progression of central visual field loss. In conclusion, both family members with cone dystrophy exhibited gradual changes in their fundi, electrophysiological testing and multimodal imaging. Changes were milder than those observed in other mutations of the same gene.

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GUC2YD dominant cone dys paper Revised Draft 04-09-2018 - Accepted Manuscript
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Accepted/In Press date: 8 August 2018
e-pub ahead of print date: 18 December 2018

Identifiers

Local EPrints ID: 424256
URI: http://eprints.soton.ac.uk/id/eprint/424256
ISSN: 2222-3959
PURE UUID: b3079d1e-2165-4f57-859d-e3f4756aa0d1
ORCID for Reuben Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 05 Oct 2018 11:35
Last modified: 16 Mar 2024 04:16

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Contributors

Author: Georgios Tsokolas
Author: Hussein Almuhtaseb
Author: Helen Griffiths
Author: Fatima Shawkat
Author: Reuben Pengelly ORCID iD
Author: Sarah Ennis ORCID iD
Author: Andrew Lotery ORCID iD

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