PMC5904013_01
Pedigree segregating a novel synonymous choroideremia variant. Proband (III: 1) exhibits symptoms and characteristic imaging findings for choroideremia and harbors a hemizygous c.1359C>T, (p.S453S) variant in CHM. Mother of the proband (II: 2) exhibits characteristic choroideremia carrier phenotype on retinal imaging.. *; denotes obligate carriers who were not examined and did not undergo CHM sequencing.
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PMC5904013_02_nihms904805f1.jpg
F1
The mother (Fig. 1, II:2) of the proband presented at 63-years-old with no visual complaints.
Retinal imaging of the proband. Digital color photo of the right (A) and left (B) eyes depicting classic pale-appearing peripheral fundus due to illumination of the sclera posterior to the degenerating choroid. SW-FAF imaging of the right (C) and left (D) eyes revealing areas of extensive RPE loss and areas of foveal sparing. SD-OCT imaging of the right (E) and left (F) shows chorioretinal thinning and diminished visualization.
nihms904805f2.jpg
PMC5904013_02_nihms904805f2.jpg
F2
The mother (Fig. 1, II:2) of the proband presented at 63-years-old with no visual complaints.
Retinal imaging of the unaffected carrier mother. SW-FAF imaging of the right (A) and left (B) eyes reveals mosaic-like RPE loss which spares the central macula in a fishnet pattern. SD-OCT imaging of the right (C) and left (D) eyes reveals a relatively thin choroid and sparsely scattered hyporeflectance of the RPE.
nihms904805f3.jpg
PMC5904013_02_nihms904805f3.jpg
F3
SD-OCT revealed intact retinal layers with intermittent areas of decreased reflectance in the RPE layer (Fig. 3.). FAF imaging revealed a mosaic pattern of patchy hypoautofluorescence in a fishnet pattern up to the parafoveal area (Fig. 3), consistent with a CHM carrier phenotype.
PMC5904013_02
Pedigree segregating a novel synonymous choroideremia variant. Proband (III: 1) exhibits symptoms and characteristic imaging findings for choroideremia and harbors a hemizygous c.1359C>T, (p.S453S) variant in CHM. Mother of the proband (II: 2) exhibits characteristic choroideremia carrier phenotype on retinal imaging.. *; denotes obligate carriers who were not examined and did not undergo CHM sequencing.
nihms904805f1.jpg
PMC5904013_02_nihms904805f1.jpg
F1
The mother (Fig. 1, II:2) of the proband presented at 63-years-old with no visual complaints.
Retinal imaging of the proband. Digital color photo of the right (A) and left (B) eyes depicting classic pale-appearing peripheral fundus due to illumination of the sclera posterior to the degenerating choroid. SW-FAF imaging of the right (C) and left (D) eyes revealing areas of extensive RPE loss and areas of foveal sparing. SD-OCT imaging of the right (E) and left (F) shows chorioretinal thinning and diminished visualization.
nihms904805f2.jpg
PMC5904013_02_nihms904805f2.jpg
F2
The mother (Fig. 1, II:2) of the proband presented at 63-years-old with no visual complaints.
Retinal imaging of the unaffected carrier mother. SW-FAF imaging of the right (A) and left (B) eyes reveals mosaic-like RPE loss which spares the central macula in a fishnet pattern. SD-OCT imaging of the right (C) and left (D) eyes reveals a relatively thin choroid and sparsely scattered hyporeflectance of the RPE.
nihms904805f3.jpg
PMC5904013_02_nihms904805f3.jpg
F3
SD-OCT revealed intact retinal layers with intermittent areas of decreased reflectance in the RPE layer (Fig. 3.). FAF imaging revealed a mosaic pattern of patchy hypoautofluorescence in a fishnet pattern up to the parafoveal area (Fig. 3), consistent with a CHM carrier phenotype.