Optical Coherence Tomography Features of X-Linked Choroideremia

Affortit-Demoge, Aude; Querques, Giuseppe; Angulo-Bocco, Cecilia; d’Athis, Philippe; Soubrane, G.; Souied, Eric H.

doi:10.1097/icb.0b013e31816bbee9

Cited by 6 publications

(4 citation statements)

References 6 publications

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“…SD‐OCT and more recently OCT angiography, a new tool documenting vascular outflow in the retinal and choriocapillaris vasculature, have also been used to analyze the choroid and vascular changes in choroideremia. Several studies mention predominant alterations in choroidal thickness and choriocapillaris vessel density in areas of RPE atrophy, while these structures were relatively preserved in locations underlying intact RPE (Battaglia Parodi et al, 2019; Jain et al, 2016; Xue et al, 2016) in line with previous angiographic studies (Affortit‐Demoge et al, 2009). From these findings, no conclusion can be drawn on the primary cellular defect in choroideremia, as the choriocapillaris alteration can be primary or secondary to the RPE defect.…”

Section: Phenotypic Characteristicssupporting

confidence: 58%

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

et al. 2021

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Choroideremia is an X‐linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris and choroid affecting males with variable phenotypes in female carriers. Unlike other IRD, characterized by a large clinical and genetic heterogeneity, choroideremia shows a specific phenotype with causative mutations in only one gene, CHM. Ongoing gene replacement trials raise further interests in this disorder. We describe here the clinical and genetic data from a French cohort of 45 families, 25 of which carry novel variants, in the context of 822 previously reported choroideremia families. Most of the variants represent loss‐of‐function mutations with eleven families having large (i.e. ≥6 kb) genomic deletions, 18 small insertions, deletions or insertion deletions, six showing nonsense variants, eight splice site variants and two missense variants likely to affect splicing. Similarly, 822 previously published families carry mostly loss‐of‐function variants. Recurrent variants are observed worldwide, some of which linked to a common ancestor, others arisen independently in specific CHM regions prone to mutations. Since all exons of CHM may harbor variants, Sanger sequencing combined with quantitative polymerase chain reaction or multiplex ligation‐dependent probe amplification experiments are efficient to achieve the molecular diagnosis in patients with typical choroideremia features.

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Section: Phenotypic Characteristicssupporting

confidence: 58%

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

et al. 2021

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“…A recent study by Affortit-Demoge and associates,9 by using time-domain OCT (TD-OCT) testing, showed a positive correlation between the retinal thickness and choriocapillaris preservation in CHM. Jacobson and co-workers10 showed the presence of retinal thickening and normal retinal laminar structures in early stages of the disease with subsequent retinal thinning and disorganization with disease progression.…”

Section: Introductionmentioning

confidence: 99%

Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination

Genead

Fishman

2010

Eye

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Purpose To determine the prevalence of cystic macular edema (CME) in patients with choroideremia by using spectral-domain optical coherence tomography (SD-OCT). Methods Sixteen patients affected with choroideremia were enrolled in the study. All patients underwent a complete eye examination. SD-OCT was performed using an OPKO spectral-domain OCT/SLO instrument. Results The average age of the study patients was 44.0 ± 16.0 years (range, 13–63 years). Out of the 16 patients with choroideremia, 10 patients (62.5%) showed a degree of CME on SD-OCT testing in at least one eye, and 8 patients (50%) showed CME in both eyes. Conclusions Because of its notable prevalence, it would seem prudent to screen choroideremia patients by SD-OCT for the possible presence of CME and to identify those amenable to future treatment strategies for their macular edema.

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“…This phenotype is consistent with a heterozygous carrier woman with an X-linked inherited retinal disease. [8][9][10] The classic phenotypes of the Brazilian patient who has choroideremia and his carrier daughter reinforce the pathogenicity of this variant.…”

Section: Discussionmentioning

confidence: 85%

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

Palma

Motta

Gomes

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Choroideremia is an inherited retinal degeneration caused by 280 different pathogenic variants in the CHM gene. Only one silent/synonymous variant (c.1359C>T; p.(Ser453=)) has been reported and was classified as inconclusive based on in silico analysis. This study elucidates the pathogenicity of this variant also found in a Brazilian patient. METHODS. Ophthalmological examinations such as color fundus photography, spectraldomain optical coherence tomography, fundus autofluorescence, and macular integrity assessment microperimetry were performed. The subjects' total RNA was extracted from peripheral blood cells. cDNA was synthesized and the amplification between exon 10 and 14 of the CHM mRNA was performed. The amplification products were sequenced by Sanger sequencing and the results were aligned to the reference sequence. RESULTS. The synonymous variant c.1359C>T p.(Ser453=) in the CHM gene is associated with an error in mRNA processing, leading preferentially to production of an aberrant transcript without exon 11 (p.(Gln451Phefs*3)). This anomalous mRNA production is related to typical choroideremia phenotype. CONCLUSIONS. These molecular findings reinforce the need for more detailed investigation of silent variants in patients with well-defined phenotype of retinal dystrophies. Molecular and clinical findings provided evidence that c.1359C>T (p.(Gln451Phefs*3)) in CHM should be considered a disease-causing variant.

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Optical Coherence Tomography Features of X-Linked Choroideremia

Abstract: OCT revealed a correlation between retinal thickness and choriocapillaris preservation in CHM.

Cited by 6 publications

References 6 publications

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

CHM mutation spectrum and disease: An update at the time of human therapeutic trials

Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

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