Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients
A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having <i>NR2E3</i> mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three p...
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MDPI AG
2020-10-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/11/1288 |
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| author | Saoud Al-khuzaei Suzanne Broadgate Stephanie Halford Jasleen K. Jolly Morag Shanks Penny Clouston Susan M. Downes |
| author_facet | Saoud Al-khuzaei Suzanne Broadgate Stephanie Halford Jasleen K. Jolly Morag Shanks Penny Clouston Susan M. Downes |
| author_sort | Saoud Al-khuzaei |
| collection | DOAJ |
| description | A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having <i>NR2E3</i> mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three participants were identified with biallelic <i>NR2E3</i> pathogenic sequence variants detected using a targeted NGS gene panel, two of which were novel. Participant I was a Nepalese male aged 68 years, and participants II and III were white Caucasian females aged 69 and 10 years old, respectively. All three had childhood onset nyctalopia, a progressive decrease in central vision, and visual field loss. Patients I and III had photopsia, patient II had photosensitivity and patient III also had photophobia. Visual acuities in patients I and II were preserved even into the seventh decade, with the worst visual acuity measured at 6/36. Visual field constriction was severe in participant I, less so in II, and fields were full to bright targets targets in participant III. Electrophysiology testing in all three demonstrated loss of rod function. The three patients share some of the typical distinctive features of <i>NR2E3</i> retinopathies, as well as a novel clinical observation of foveal ellipsoid thickening. |
| first_indexed | 2024-03-10T15:13:56Z |
| format | Article |
| id | doaj.art-71b11b648a8b47ae88edef76da545ad8 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T15:13:56Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-71b11b648a8b47ae88edef76da545ad82023-11-20T19:05:05ZengMDPI AGGenes2073-44252020-10-011111128810.3390/genes11111288Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three PatientsSaoud Al-khuzaei0Suzanne Broadgate1Stephanie Halford2Jasleen K. Jolly3Morag Shanks4Penny Clouston5Susan M. Downes6Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UKNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UKNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UKOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UKOxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UKOxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UKOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UKA retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having <i>NR2E3</i> mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three participants were identified with biallelic <i>NR2E3</i> pathogenic sequence variants detected using a targeted NGS gene panel, two of which were novel. Participant I was a Nepalese male aged 68 years, and participants II and III were white Caucasian females aged 69 and 10 years old, respectively. All three had childhood onset nyctalopia, a progressive decrease in central vision, and visual field loss. Patients I and III had photopsia, patient II had photosensitivity and patient III also had photophobia. Visual acuities in patients I and II were preserved even into the seventh decade, with the worst visual acuity measured at 6/36. Visual field constriction was severe in participant I, less so in II, and fields were full to bright targets targets in participant III. Electrophysiology testing in all three demonstrated loss of rod function. The three patients share some of the typical distinctive features of <i>NR2E3</i> retinopathies, as well as a novel clinical observation of foveal ellipsoid thickening.https://www.mdpi.com/2073-4425/11/11/1288NR2E3inherited retinal degenerationretinal dystrophyenhanced S-cone syndromeautosomal recessive and autosomal dominant retinitis pigmentosaGoldmann–Favre syndrome |
| spellingShingle | Saoud Al-khuzaei Suzanne Broadgate Stephanie Halford Jasleen K. Jolly Morag Shanks Penny Clouston Susan M. Downes Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients Genes NR2E3 inherited retinal degeneration retinal dystrophy enhanced S-cone syndrome autosomal recessive and autosomal dominant retinitis pigmentosa Goldmann–Favre syndrome |
| title | Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients |
| title_full | Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients |
| title_fullStr | Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients |
| title_full_unstemmed | Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients |
| title_short | Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients |
| title_sort | novel pathogenic sequence variants in i nr2e3 i and clinical findings in three patients |
| topic | NR2E3 inherited retinal degeneration retinal dystrophy enhanced S-cone syndrome autosomal recessive and autosomal dominant retinitis pigmentosa Goldmann–Favre syndrome |
| url | https://www.mdpi.com/2073-4425/11/11/1288 |
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