PMC8105111_01
Slit photograph of right (a) and left (b) eyes of patient number 1. She underwent surgical peripheral iridotomy (PI) and trabeculectomy in her both eyes for angle-closure glaucoma. Fundus photo of right and left eyes (c) shows total cup-to-disc ratio and yellow subfoveal materials. Fluorescein angiography of left eye with peripheral views (d) shows staining of yellow vitelliform materials without peripheral leakage. Optical coherence tomography (OCT) of right (e) and left (f) eyes show subfoveal hyporeflective space in both eyes with elongated photoreceptors and intraretinal schisis cavities in inner nuclear layer (INL) and outer nuclear layer (ONL). There are also deposits of debris in the subretinal space mimicking RPE hypertrophy in both eyes.
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This patient underwent multiple surgeries and ended up with advanced angle-closure glaucoma (Figure 1). One of the siblings (the younger one, patient 1) underwent trabeculectomy twice in each eye and shunting procedure in her right eye (Figure 1).
Fundus photo (a, d, g) and pachychoroid in enhanced depth imaging optical coherence tomography (EDI-OCT) (b, c, e, f, h, i) of three patients. Patient no. 8 (first line) was a 16-year-old female with significant pachychoroid in EDI-OCT (b, c) that was diagnosed with angle closure in both eyes in gonioscopy without glaucoma. Patient no. 6 (second line) is an 11-year-old female with high hyperopia that shows significant pachychoroid in EDI-OCT (e, f). She also was diagnosed with angle closure in both eyes in gonioscopy without glaucoma. Patient no. 4 (last line) also shows pachychoroid changes in EDI-OCT (g, i). She also shows a fibrotic pillar in left eye OCT (i).
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Figure 2(g)). Four patients (patients 4, 5, 14, 15, and 21) showed subretinal fibrosis in the foveal or parafoveal region without any evidence of previous CNV; based on OCT, three of them were compatible with fibrotic pillars (patients 4, 15, and 21; Figures 2(g) and 2(i)).
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