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Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report
We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer. A slit-lamp examination revealed ciliary hyperemia, bulbar conjunctival edema, epithelial de...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489851/ https://www.ncbi.nlm.nih.gov/pubmed/36160132 http://dx.doi.org/10.3389/fmed.2022.955929 |
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author | Zhu, Rong Zhu, Yuxiang Xu, Mingpeng Gu, Zhensheng |
author_facet | Zhu, Rong Zhu, Yuxiang Xu, Mingpeng Gu, Zhensheng |
author_sort | Zhu, Rong |
collection | PubMed |
description | We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer. A slit-lamp examination revealed ciliary hyperemia, bulbar conjunctival edema, epithelial defect, and ulcer lesion in the inferior part of the cornea, local corneal stromal edema accompanied by new vascular growth in his affected eye. In addition, the corneal sensitivity and nerve fiber density decreased significantly in both eyes. Tear film break-up time and Schirmer’s I test were below lower limit. Moreover, the patient exhibited typical systemic features, including no normal response to pain stimuli, anhidrosis and self-injurious behavior. Gene sequencing revealed a compound-heterozygous mutations in NTRK1 gene: a missense mutation inherited from his mother (c.1750G > A, P.E584K) and a new splicing mutation inherited from his father (c.2187 + 5G > C). After 8 weeks of medication, the corneal ulcer basically healed. This study expands the spectrum of NTRK1 gene mutation associated with CIPA and provides a feasible approach for clinicians to treat patients with CIPA-related keratopathy. |
format | Online Article Text |
id | pubmed-9489851 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-94898512022-09-22 Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report Zhu, Rong Zhu, Yuxiang Xu, Mingpeng Gu, Zhensheng Front Med (Lausanne) Medicine We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer. A slit-lamp examination revealed ciliary hyperemia, bulbar conjunctival edema, epithelial defect, and ulcer lesion in the inferior part of the cornea, local corneal stromal edema accompanied by new vascular growth in his affected eye. In addition, the corneal sensitivity and nerve fiber density decreased significantly in both eyes. Tear film break-up time and Schirmer’s I test were below lower limit. Moreover, the patient exhibited typical systemic features, including no normal response to pain stimuli, anhidrosis and self-injurious behavior. Gene sequencing revealed a compound-heterozygous mutations in NTRK1 gene: a missense mutation inherited from his mother (c.1750G > A, P.E584K) and a new splicing mutation inherited from his father (c.2187 + 5G > C). After 8 weeks of medication, the corneal ulcer basically healed. This study expands the spectrum of NTRK1 gene mutation associated with CIPA and provides a feasible approach for clinicians to treat patients with CIPA-related keratopathy. Frontiers Media S.A. 2022-09-07 /pmc/articles/PMC9489851/ /pubmed/36160132 http://dx.doi.org/10.3389/fmed.2022.955929 Text en Copyright © 2022 Zhu, Zhu, Xu and Gu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine Zhu, Rong Zhu, Yuxiang Xu, Mingpeng Gu, Zhensheng Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report |
title | Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report |
title_full | Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report |
title_fullStr | Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report |
title_full_unstemmed | Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report |
title_short | Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report |
title_sort | ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: a case report |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489851/ https://www.ncbi.nlm.nih.gov/pubmed/36160132 http://dx.doi.org/10.3389/fmed.2022.955929 |
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