J.ophthalmol.(Ukraine).2021;2:50-53.
http://doi.org/10.31288/oftalmolzh202235053
Received: 05.02.2022; Accepted: 04.05.2022; Published on-line 15.06.2022
Choroideremia – A clinical insight and differential diagnosis
Ali Nouraeinejad, Ph.D.
University College London (UCL); London (United Kingdom)
E-mail: AliNouraeinejad@yahoo.com
TO CITE THIS ARTICLE:Ali Nouraeinejad. Choroideremia – A clinical insight and differential diagnosis. J.ophthalmol.(Ukraine).2022;3:50-3. http://doi.org/10.31288/oftalmolzh202235053
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.
Key words: Retinal dystrophy, Choroideremia, Retinitis pigmentosa, Chorioretinal degeneration, Differential diagnosis
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Information about authors and disclosure of information
Corresponding Author: Ali Nouraeinejad, Ph.D., Address: Department of Clinical Ophthalmology, University College London (UCL), London, United Kingdom. E-mail: AliNouraeinejad@yahoo.com
Acknowledgements: The author would like to express his honest gratitude and high respect for the lifetime support of his father, Mohammad Nouraeinejad.
Compliance with ethical guidelines: Review and original based materials have been appropriately cited and the ethical guidelines have been respected.
Funding: This research did not receive any specific grant from funding agencies in the public, commercial, or nonprofit sectors.
Conflict of interest: The author declares no conflict of interest.
Abbreviation: REP1 – Rab escort protein 1; XLR – X-linked recessive; RPE – retinal pigment epithelium; OCT – optical coherence tomography; CNV – choroidal neovascularization; FAF – fundus autoflorescence; OCTA – optical coherence tomography angiography; AOSLO – confocal adaptive optics scanning light ophthalmoscopy; FFA – Fundus florescein angiography; AD – Autosomal dominant; AR – autosomal recessive; OAT – ornithine-delta-aminotransferase.