Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report
Abstract Background We present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation. Case presentation A 25-year-old woman complained of decreased vision in the right eye as well as night bl...
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-023-02968-4 |
| _version_ | 1827943510953689088 |
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| author | Hyun Woo Lee Eun Kyoung Lee |
| author_facet | Hyun Woo Lee Eun Kyoung Lee |
| author_sort | Hyun Woo Lee |
| collection | DOAJ |
| description | Abstract Background We present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation. Case presentation A 25-year-old woman complained of decreased vision in the right eye as well as night blindness. Her visual acuity was 20/100 (OD) and 20/20 (OS). Fundus examination revealed bone spicule pigmentation with tessellated changes in the fundus within the posterior pole. Optical coherence tomography (OCT) showed generalized disruption of foveal microstructures in the OD. No abnormal findings were identified, but localized ellipsoid zone band losses were observed on OCT in the OS. Fundus autofluorescence revealed multiple patchy hypo-autofluorescent lesions in the OD and a tapetal-like radial reflex against a dark background in the OS. Fluorescein angiography and OCT angiography revealed diffuse mottled hyperfluorescence with reduced retinal vessel density in the OD and no evidence of vascular compromise in the OS. Goldmann perimetry demonstrated a constricted visual field, and electrophysiological assessment revealed an extinguished rod response and a severely impaired cone response in the OD. Molecular genetic tests via next-generation sequencing revealed the pathogenic variant to be a heterozygous frameshift mutation in RP2 (RP2, p.Glu269Glyfs*7), resulting in premature termination of the protein. Conclusions Random X-inactivation may be attributed to interocular differences in the severity of XLRP in female carriers. A novel frameshift mutation in the RP2 gene and a comprehensive phenotypic evaluation in the current study may broaden the spectrum of the disease in XLRP carriers. |
| first_indexed | 2024-03-13T10:16:32Z |
| format | Article |
| id | doaj.art-29b71b09c6be43688d275385d7ecf0c3 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-03-13T10:16:32Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-29b71b09c6be43688d275385d7ecf0c32023-05-21T11:11:34ZengBMCBMC Ophthalmology1471-24152023-05-012311710.1186/s12886-023-02968-4Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case reportHyun Woo Lee0Eun Kyoung Lee1Pre-medical Program, Seoul National University College of MedicineDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University HospitalAbstract Background We present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation. Case presentation A 25-year-old woman complained of decreased vision in the right eye as well as night blindness. Her visual acuity was 20/100 (OD) and 20/20 (OS). Fundus examination revealed bone spicule pigmentation with tessellated changes in the fundus within the posterior pole. Optical coherence tomography (OCT) showed generalized disruption of foveal microstructures in the OD. No abnormal findings were identified, but localized ellipsoid zone band losses were observed on OCT in the OS. Fundus autofluorescence revealed multiple patchy hypo-autofluorescent lesions in the OD and a tapetal-like radial reflex against a dark background in the OS. Fluorescein angiography and OCT angiography revealed diffuse mottled hyperfluorescence with reduced retinal vessel density in the OD and no evidence of vascular compromise in the OS. Goldmann perimetry demonstrated a constricted visual field, and electrophysiological assessment revealed an extinguished rod response and a severely impaired cone response in the OD. Molecular genetic tests via next-generation sequencing revealed the pathogenic variant to be a heterozygous frameshift mutation in RP2 (RP2, p.Glu269Glyfs*7), resulting in premature termination of the protein. Conclusions Random X-inactivation may be attributed to interocular differences in the severity of XLRP in female carriers. A novel frameshift mutation in the RP2 gene and a comprehensive phenotypic evaluation in the current study may broaden the spectrum of the disease in XLRP carriers.https://doi.org/10.1186/s12886-023-02968-4Retinitis pigmentosaMultimodal imagingRP2 GeneX-linked retinitis pigmentosa |
| spellingShingle | Hyun Woo Lee Eun Kyoung Lee Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report BMC Ophthalmology Retinitis pigmentosa Multimodal imaging RP2 Gene X-linked retinitis pigmentosa |
| title | Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report |
| title_full | Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report |
| title_fullStr | Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report |
| title_full_unstemmed | Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report |
| title_short | Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report |
| title_sort | asymmetric presentation with a novel rp2 gene mutation in x linked retinitis pigmentosa a case report |
| topic | Retinitis pigmentosa Multimodal imaging RP2 Gene X-linked retinitis pigmentosa |
| url | https://doi.org/10.1186/s12886-023-02968-4 |
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