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Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa

BACKGROUND: To investigate the clinical findings of choroideremia patients and perform genetic analysis by whole-exome sequencing (WES). METHODS: A total of 94 patients initially diagnosed with retinitis pigmentosa (RP) at another hospital, and who visited our hospital for genetic analysis by WES, w...

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Autores principales: Kim, Jin Ha, Han, Jung Woo, Choi, Eun Woo, Bang, Ji Hong, Shin, Hee Jeong, Jang, Mi-Ae, Lee, Jong-Young, Choi, Jeong Nam, Chang, Hun Soo, Park, Tae Kwann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763878/
https://www.ncbi.nlm.nih.gov/pubmed/35040292
http://dx.doi.org/10.3346/jkms.2022.37.e5
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author Kim, Jin Ha
Han, Jung Woo
Choi, Eun Woo
Bang, Ji Hong
Shin, Hee Jeong
Jang, Mi-Ae
Lee, Jong-Young
Choi, Jeong Nam
Chang, Hun Soo
Park, Tae Kwann
author_facet Kim, Jin Ha
Han, Jung Woo
Choi, Eun Woo
Bang, Ji Hong
Shin, Hee Jeong
Jang, Mi-Ae
Lee, Jong-Young
Choi, Jeong Nam
Chang, Hun Soo
Park, Tae Kwann
author_sort Kim, Jin Ha
collection PubMed
description BACKGROUND: To investigate the clinical findings of choroideremia patients and perform genetic analysis by whole-exome sequencing (WES). METHODS: A total of 94 patients initially diagnosed with retinitis pigmentosa (RP) at another hospital, and who visited our hospital for genetic analysis by WES, were included in the study, along with 64 family members. All subjects underwent comprehensive ophthalmic evaluation, including best-corrected visual acuity, slit lamp examination, fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FAG), visual field (VF), electroretinogram (ERG), and optical coherence tomography (OCT). RESULTS: In six male patients with suspected choroideremia, extensive retinal pigment epithelium (RPE) and severe loss of choroid were observed in the fundus, but not in the macula. CHM gene mutation was confirmed in five patients. A novel single nucleotide variant at a splice site was observed in one patient. OCT showed marked thinning of the outernuclear layer and choroid, except in the macula. FAF showed a small area of hyperfluorescence in the posterior pole. In addition, characteristic interlaminar bridges were observed in four patients. On FAG, hypofluorescence was seen up to the far-peripheral retina in five patients. CONCLUSION: Of the 94 patients initially diagnosed with RP, CHM mutation was identified in five (5.3%) by WES. Choroideremia should be considered as a differential diagnosis of RP. WES would be useful for identifying the causes of hereditary retinal disease.
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spelling pubmed-87638782022-01-25 Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa Kim, Jin Ha Han, Jung Woo Choi, Eun Woo Bang, Ji Hong Shin, Hee Jeong Jang, Mi-Ae Lee, Jong-Young Choi, Jeong Nam Chang, Hun Soo Park, Tae Kwann J Korean Med Sci Original Article BACKGROUND: To investigate the clinical findings of choroideremia patients and perform genetic analysis by whole-exome sequencing (WES). METHODS: A total of 94 patients initially diagnosed with retinitis pigmentosa (RP) at another hospital, and who visited our hospital for genetic analysis by WES, were included in the study, along with 64 family members. All subjects underwent comprehensive ophthalmic evaluation, including best-corrected visual acuity, slit lamp examination, fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FAG), visual field (VF), electroretinogram (ERG), and optical coherence tomography (OCT). RESULTS: In six male patients with suspected choroideremia, extensive retinal pigment epithelium (RPE) and severe loss of choroid were observed in the fundus, but not in the macula. CHM gene mutation was confirmed in five patients. A novel single nucleotide variant at a splice site was observed in one patient. OCT showed marked thinning of the outernuclear layer and choroid, except in the macula. FAF showed a small area of hyperfluorescence in the posterior pole. In addition, characteristic interlaminar bridges were observed in four patients. On FAG, hypofluorescence was seen up to the far-peripheral retina in five patients. CONCLUSION: Of the 94 patients initially diagnosed with RP, CHM mutation was identified in five (5.3%) by WES. Choroideremia should be considered as a differential diagnosis of RP. WES would be useful for identifying the causes of hereditary retinal disease. The Korean Academy of Medical Sciences 2021-11-30 /pmc/articles/PMC8763878/ /pubmed/35040292 http://dx.doi.org/10.3346/jkms.2022.37.e5 Text en © 2022 The Korean Academy of Medical Sciences. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Kim, Jin Ha
Han, Jung Woo
Choi, Eun Woo
Bang, Ji Hong
Shin, Hee Jeong
Jang, Mi-Ae
Lee, Jong-Young
Choi, Jeong Nam
Chang, Hun Soo
Park, Tae Kwann
Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
title Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
title_full Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
title_fullStr Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
title_full_unstemmed Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
title_short Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
title_sort clinical manifestations and genetic analysis of 5 korean choroideremia patients initially diagnosed with retinitis pigmentosa
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763878/
https://www.ncbi.nlm.nih.gov/pubmed/35040292
http://dx.doi.org/10.3346/jkms.2022.37.e5
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