PMC9489851_01
Ocular condition of both eyes before treatment. Slit-lamp examination showed ciliary hyperemia of the right eye (blue arrow), bulbar conjunctival edema (green arrow), epithelial defect, ulcer lesion (red arrow), and local corneal stromal edema accompanied by new vascular growth. There was no obvious abnormality in the left eye. Corneal confocal microscopy showed a large number of inflammatory cells infiltrated in the ulcer area of the right eye, corneal tissue structure disordered, and nerve fibers became sparse and arranged chaotically. In the left eye, the density of the subepithelial nerve fiber plexus was significantly decreased or even vanished, some of which ruptured and twisted.
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F1
No obvious corneal abnormality was observed in the left eye (Figure 1). The density of the subepithelial nerve fiber plexus of the left eye was significantly decreased or even vanished, some of which ruptured and twisted (Figure 1).
Systemic manifestations. Clinical symptoms of the patient: Spontaneous amputation of fingertips (A), dry and hyperkeratotic skin of the palm (B), damaged tongue (C).
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F2
Physical examination showed that the patient had microcephaly, low ears, sparse eyebrows, tongue tip scar formation, extremely dry palm skin, and hyperkeratosis, spontaneous amputation of fingertips on both hands (Figure 2).
Gene sequencing. Sequencing analysis of the patient revealed a compound-heterozygous mutation in NTRK1.
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F3
Sanger sequencing showed that the patient's mother carried the missense mutation, while his father carried the splicing mutation (Figure 3).