PMC8517444_01
The patient's drawing at 8 years old describing her visual experience. (A) Black-and-white or coloured swirls with colourful dots. (B) Colourful dots involving the entire visual field.
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F1
Her parents found out that she had been seeing "pretty moving colourful dots" and "swirling black-and-white or coloured circles" since she was 2 years old (Figure 1).
Ophthalmological examination of the XLRP carrier. (A) Ultra-widefield retinal imaging reveals pigmentary changes in the right eye as indicated by arrows, while the left eye shows milder changes. (B) Fundus photography reveals bone spicules in the inferior retina of both eyes, as marked by arrows. (C) Ultra-widefield fundus autofluorescence shows multiple patchy hypofluorescent areas distributing from the macula to the peripheral retina in both eyes. (D) Optical coherence tomography reveals preserved central foveal ellipsoid zones, with attenuation in the perifoveal area. (E) Multifocal electroretinography shows marked attenuation of the entire macular area of the retina (right eye) and diagonally patchy appearances of low amplitude responses (left eye). Data were retrieved from the ophthalmological examination at the age of 8 years.
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F2
However, she developed bone spicule pigmentation and white flecks at the inferior retina in both eyes, which were more prominent in the right eye (Figures 2A,B). Widefield fundus autofluorescence images revealed multiple patchy hypofluorescent areas distributing from the posterior pole to the peripheral retina in both eyes indicating loss of RPE cells (Figure 2C). Optical coherence tomography (OCT) showed attenuation of the ellipsoid zones in the perifoveal area, with well-preserved central fovea (Figure 2D). The multifocal electroretinogram (mfERG) demonstrated marked attenuation of the entire macular area of the retina in the right eye and patchy low amplitude responses in the left eye (Figure 2E).
(A) The patient's family pedigree. The pedigree was drawn based on the father's description on their family members presenting symptoms suggestive of XLRP. Circles indicate female and squares indicate male. Close symbols indicate family members with symptoms and open symbols indicate unaffected individuals. The dotted circle indicates the patient as a female carrier. The strike-through symbols indicate deceased family members. (B) Timeline of patient care. The patient's parents first noticed her seeing colourful moving dots, possibly representing visual snow, at the age of 2 years. She first came for ophthalmological evaluation at the age of 5 years due to blurred vision. The follow up was performed five times over the course of 3.5 years, where the patient displayed significant reduction of the cone function in both eyes. The mutation analysis and the X-chromosome inactivation study were performed at the age of 8 years.
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F3
The detail of the pedigree and timeline of the patient's follow up is as shown in Figures 3A,B.