Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200
<p><strong>Importance</strong> <em>SNRNP200</em> is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.</p> <p><strong>Obj...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
American Medical Association (AMA)
2019
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| _version_ | 1797067659132534784 |
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| author | Yusuf, IH Birtel, J Shanks, ME Clouston, P Downes, SM Charbel Issa, P MacLaren, RE |
| author_facet | Yusuf, IH Birtel, J Shanks, ME Clouston, P Downes, SM Charbel Issa, P MacLaren, RE |
| author_sort | Yusuf, IH |
| collection | OXFORD |
| description | <p><strong>Importance</strong> <em>SNRNP200</em> is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.</p>
<p><strong>Objective</strong> To describe the retinal phenotype in patients with RP secondary to variants in <em>SNRNP200</em>.</p>
<p><strong>Design, Setting, and Participants</strong> This retrospective, case-series study was performed at 2 tertiary referral centers for inherited retinal diseases. Participants included 9 consecutive patients from 8 families with RP attributed to variants in <em>SNRNP200</em>. Data were collected from August 2017 to March 2018 and analyzed from May to July 2018.</p>
<p><strong>Main Outcomes and Measures</strong> Results of clinical evaluation, multimodal retinal imaging, and molecular genetic testing using targeted next-generation sequencing.</p>
<p><strong>Results</strong> Of the 9 patients included in the analysis (4 female and 5 male; mean [SD] age at presentation, 19 [15] years), each presented with nyctalopia, typically in the first 2 decades of life, although 2 patients experienced symptom onset in middle age. None had any consistent systemic features suggestive of syndromic RP. Retinal imaging studies and electroretinography findings were typical of a rod-predominant dystrophy with later involvement of cone photoreceptors. Phenotypic heterogeneity was typified by 4 unrelated patients with the common c.2041C>T <em>SNRNP200</em> variant who demonstrated a variable age of disease onset (middle teenage years to the fourth decade of life). Disease progression was slow, with all but 1 patient maintaining visual acuity of better than 20/40 in the better-seeing eye in the fifth and sixth decades of life.</p>
<p><strong>Conclusions and Relevance</strong> These data suggest that variants in <em>SNRNP200</em> result in nonsyndromic RP with a typical phenotype of a rod-predominant dystrophy. Significant phenotypic heterogeneity and nonpenetrance were noted within some affected families. Symptom onset was typically within the first 2 decades of life, with slow progression and well-preserved visual acuities into the fifth and sixth decades.</p> |
| first_indexed | 2024-03-06T21:59:31Z |
| format | Journal article |
| id | oxford-uuid:4e19d4d7-aebb-4448-85a2-4ef460dd036e |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:59:31Z |
| publishDate | 2019 |
| publisher | American Medical Association (AMA) |
| record_format | dspace |
| spelling | oxford-uuid:4e19d4d7-aebb-4448-85a2-4ef460dd036e2022-03-26T15:59:16ZClinical characterization of retinitis pigmentosa associated with variants in SNRNP200Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:4e19d4d7-aebb-4448-85a2-4ef460dd036eEnglishSymplectic ElementsAmerican Medical Association (AMA)2019Yusuf, IHBirtel, JShanks, MEClouston, PDownes, SMCharbel Issa, PMacLaren, RE<p><strong>Importance</strong> <em>SNRNP200</em> is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.</p> <p><strong>Objective</strong> To describe the retinal phenotype in patients with RP secondary to variants in <em>SNRNP200</em>.</p> <p><strong>Design, Setting, and Participants</strong> This retrospective, case-series study was performed at 2 tertiary referral centers for inherited retinal diseases. Participants included 9 consecutive patients from 8 families with RP attributed to variants in <em>SNRNP200</em>. Data were collected from August 2017 to March 2018 and analyzed from May to July 2018.</p> <p><strong>Main Outcomes and Measures</strong> Results of clinical evaluation, multimodal retinal imaging, and molecular genetic testing using targeted next-generation sequencing.</p> <p><strong>Results</strong> Of the 9 patients included in the analysis (4 female and 5 male; mean [SD] age at presentation, 19 [15] years), each presented with nyctalopia, typically in the first 2 decades of life, although 2 patients experienced symptom onset in middle age. None had any consistent systemic features suggestive of syndromic RP. Retinal imaging studies and electroretinography findings were typical of a rod-predominant dystrophy with later involvement of cone photoreceptors. Phenotypic heterogeneity was typified by 4 unrelated patients with the common c.2041C>T <em>SNRNP200</em> variant who demonstrated a variable age of disease onset (middle teenage years to the fourth decade of life). Disease progression was slow, with all but 1 patient maintaining visual acuity of better than 20/40 in the better-seeing eye in the fifth and sixth decades of life.</p> <p><strong>Conclusions and Relevance</strong> These data suggest that variants in <em>SNRNP200</em> result in nonsyndromic RP with a typical phenotype of a rod-predominant dystrophy. Significant phenotypic heterogeneity and nonpenetrance were noted within some affected families. Symptom onset was typically within the first 2 decades of life, with slow progression and well-preserved visual acuities into the fifth and sixth decades.</p> |
| spellingShingle | Yusuf, IH Birtel, J Shanks, ME Clouston, P Downes, SM Charbel Issa, P MacLaren, RE Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200 |
| title | Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200 |
| title_full | Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200 |
| title_fullStr | Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200 |
| title_full_unstemmed | Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200 |
| title_short | Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200 |
| title_sort | clinical characterization of retinitis pigmentosa associated with variants in snrnp200 |
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