PMC8096439_01
A family with Weill-Marchesani syndrome: (A) pedigree of the family with Weill-Marchesani syndrome; (B) the anterior segment photograph shows the dislocation of the microspherophakia (MSP) to the lower part of the nose; (C) SLO (Panoramic Ophthalmoscope-Daytona P200T) showing that the fundus of the patient was normal, and there was no obvious fundus retinal change; (D) IOLMaster (ZEISS IOLMaster 700) showing that the patient had MSP with normal AL (axial length). In the picture, black line 1 to yellow line 5 is the AL (axial length), red line 3 to green line 4 is the LT (lens thickness), blue line 2 to red line 3 is the ACD (anterior chamber depth), black line 1 to blue line 2 is the corneal thickness.
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After mydriasis, the anterior segment photograph showed that the EL was tremulous and in a state of dislocation under the nasal septum, and the equatorial part of the lens could be seen in the pupil area (Figure 1). An IOLMaster examination found that the lens was spherical, and the LT was 5.36 mm (Figure 1). Scanning laser ophthalmoscope (SLO) examination showed that the fundus retina was generally normal (Figure 1).
PMC8096439_02
PMC8096439_03
Mutations in the LTBP2 gene of the patient and her family. The waveforms of the four colors represent the signal strength of the four bases, A is green, T is red, G is black, and C is blue. Under normal circumstances, the peak is clear, and the distance between the two peaks is uniform. (A and B) Variant 1 and Variant 2 constitute a compound heterozygous missense mutation: (A) the mother had no heterozygous frameshift deletion, the red arrow was the normal peak of G, while the patient, her sister, and father had the heterozygous frameshift deletion, so their G peaks became shorter and the T peaks mixed together at the red arrows. (B) The father had no heterozygous frameshift deletion. The red arrow was the normal peak of A, while the patient, her sister, and mother found the heterozygous frameshift deletion, so their A peaks became shorter and the C peaks mixed together at the red arrows.
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Hospital, we extracted blood from the patient, her sister, and their parents. Second-generation sequencing of the genes was then performed. High-throughput sequencing and analysis were performed using the patient's clinical characteristics (low-quality mutations were filtered during data analysis to ensure accurate analysis), and two heterozygous mutations were found in the latent transforming growth factor beta-binding protein 2 (LTBP2) gene on chromosome 14 of the patient and her sister (Figure 2).