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. 2025 Apr 2;18(4):e264974.
doi: 10.1136/bcr-2025-264974.

Waardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars

Sumit Randhir Singh  1   2 , Prateek Nishant  3   4 , Sai Bhakti Mishra  5   6 , Sony Sinha  7
Affiliations

Waardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars

Sumit Randhir Singh et al. BMJ Case Rep. .
No abstract available

Keywords: General practice / family medicine; Genetic screening / counselling; Iris; Macula; Retina.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1. (A) Telecanthus, synophrys, broad nasal bridge and heterochromia iridum. (B) White forelocks. (C) Right eye: normal iris (in mydriatic state). (D) Left eye: depigmented iris (in mydriatic state).
Figure 2
Figure 2. (A) Wide-field colour fundus photograph of the right eye (RE) shows healed toxoplasma retinochoroiditis scar at the macula with no peripheral hypopigmentary changes. (B) Wide-field autofluorescence image of RE shows macular hypoautofluorescence with a partial rim of hyperautofluorescence. (C) Wide-field colour fundus photograph of the left eye (LE) shows hypopigmentation of the nasal half of the choroid, involving disc and sparing fovea. (D) Wide field autofluorescence image of LE shows hyperautofluorescence corresponding to the area of hypopigmentation.
Figure 3
Figure 3. Swept-source optical coherence tomography images. (A) normal retinal layers with normal subfoveal choroidal thickness (312µ). However, the area nasal to the disc shows sudden reduction in choroidal thickness at the point corresponding to the junction of hypopigmented and normal choroid. (B) Marked retinal atrophy with retinal pigment epithelial hyper-reflectivity and excavation corresponding to healed toxoplasma scar in the right eye.
Figure 4
Figure 4. Fluorescein angiography (FA) and indocyanine green angiography (ICGA) of the right eye (A and C, respectively) demonstrate hypofluorescence at the centre of the macula, with hyperfluorescent and hypercyanescent deeper large choroidal vessels seen inside it. FA and ICGA of the left eye (B and D, respectively) demonstrate normal angiographic patterns in the late phase.
See this image and copyright information in PMC

References

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