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Ophthalmic Genet. 2018 Jun;39(3):380-383. doi: 10.1080/13816810.2018.1430242. Epub 2018 Jan 29.

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi.

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a Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital , Oxford , United Kingdom.
b Eye 5 Clinic, Sacco Hospital, University of Milan , Milano , Italy.
c Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences , University of Oxford , Oxford , United Kingdom.


Inherited retinal diseases are thought to be the leading cause of sight loss in the working age population. Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. In the first instance, an X-linked family history of visual field loss commonly raises the suspicion of one of these two genes. In choroideremia, the classic description of a white fundal reflex secondary to the widespread chorioretinal degeneration was made over a hundred years ago in Caucasians. But, it is not so obvious in heavily pigmented fundi. Hence, the clinical diagnosis of CHM in non-Caucasian patients may be challenging in the first stages of the disease. Here we report a case of a Southeast Asian gentleman who has a family history of X-linked retinal degeneration and was found to have a confirmed in-frame deletion of 12 DNA nucleotides in exon 15 of the RPGR gene. Later in life, however, his fundal appearance showed unusual areas of circular pigment hypertrophy and clumping. He was therefore tested for carrying a disease-causing mutation in the CHM gene and a null mutation was found. Since gene therapy trials are ongoing for both of these conditions, it has now become critically important to establish the correct genetic diagnosis in order to recruit suitable candidates. Moreover, this case demonstrates the necessity to remain vigilant in the interpretation of genetic results which are inconsistent with clinical features.


Bone spicules; X-linked retinitis pigmentosa; choroideremia; genetics; pigmentary clumping

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