FIGURE
Figure 2
- ID
- ZDB-FIG-221214-160
- Publication
- Zhang et al., 2022 - Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family
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Figure 2
Clinical observations. (A) Fundus photograph of the proband (II:3) exhibiting prominent bilateral atrophy in the macula (white arrows); the atrophy presents well-circumscribed borders, total chorioretinal maldevelopment with a white appearance, and increased backscatter around the lesion due to the bare sclera. (B) OCT scan of the proband (II:3) showing a cup-shaped lesion with the complete absence of retina and choroid. There is a sharp margin, with significant excavation in the foveal region of both eyes. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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