Choroideremia – A clinical insight and differential diagnosis

Choroideremia is an X-linked recessive inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood. However, it can be confused occasionally with other conditions, especially retinitis pigmentosa due to their shared clinical manifestations. Since the...

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Main Author: Ali Nouraeinejad
Format: Article
Language:English
Published: Ukrainian Society of Ophthalmologists 2022-06-01
Series:Journal of Ophthalmology
Subjects:
Online Access:https://www.ozhurnal.com/en/archive/2022/3/8-fulltext
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author Ali Nouraeinejad
author_facet Ali Nouraeinejad
author_sort Ali Nouraeinejad
collection DOAJ
description Choroideremia is an X-linked recessive inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood. However, it can be confused occasionally with other conditions, especially retinitis pigmentosa due to their shared clinical manifestations. Since the management and patients' counseling differ between those conditions listed in the differential diagnosis, it is important for clinicians to come to the right diagnosis. This article is trying to make a differential diagnosis between choroideremia and other conditions based on the current knowledge of these disorders.
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spelling doaj.art-1db64b2b396347449faa966f5024562c2023-12-06T09:39:46ZengUkrainian Society of OphthalmologistsJournal of Ophthalmology2412-87402022-06-013505310.31288/oftalmolzh202235053Choroideremia – A clinical insight and differential diagnosisAli Nouraeinejad0University College London (UCL)Choroideremia is an X-linked recessive inherited, bilateral progressive chorioretinal dystrophy/degeneration leading to blindness by late adulthood. However, it can be confused occasionally with other conditions, especially retinitis pigmentosa due to their shared clinical manifestations. Since the management and patients' counseling differ between those conditions listed in the differential diagnosis, it is important for clinicians to come to the right diagnosis. This article is trying to make a differential diagnosis between choroideremia and other conditions based on the current knowledge of these disorders.https://www.ozhurnal.com/en/archive/2022/3/8-fulltextretinal dystrophychoroideremiaretinitis pigmentosachorioretinal degenerationdifferential diagnosis
spellingShingle Ali Nouraeinejad
Choroideremia – A clinical insight and differential diagnosis
Journal of Ophthalmology
retinal dystrophy
choroideremia
retinitis pigmentosa
chorioretinal degeneration
differential diagnosis
title Choroideremia – A clinical insight and differential diagnosis
title_full Choroideremia – A clinical insight and differential diagnosis
title_fullStr Choroideremia – A clinical insight and differential diagnosis
title_full_unstemmed Choroideremia – A clinical insight and differential diagnosis
title_short Choroideremia – A clinical insight and differential diagnosis
title_sort choroideremia a clinical insight and differential diagnosis
topic retinal dystrophy
choroideremia
retinitis pigmentosa
chorioretinal degeneration
differential diagnosis
url https://www.ozhurnal.com/en/archive/2022/3/8-fulltext
work_keys_str_mv AT alinouraeinejad choroideremiaaclinicalinsightanddifferentialdiagnosis