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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...

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Autores principales: Zhu, Rong, Zhu, Yuxiang, Xu, Mingpeng, Gu, Zhensheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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.
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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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