Fig. 2

Representative photographs of microspherophakia (MSP) patients and their pedigree chart. (A) A 22-year-old male patient carries FBN1 mutation (c.2638G > A p.G880S), with bilateral moderate lens dislocated to the quadrant above the nose. The mutation was not detected in the patient’s parents, suggesting a de novo mutation or germline mosaicism. (B) A 64-year-old female patient carries ADAMTS17 mutation (c.2292G > C p.L764F), with bilateral cataracts and mild lens dislocated to the lower quadrant. The white curves from A to B represent the boundaries of the lens, with the white dashed lines indicating links between the boundary intersections and the center. The red arrows point to the mutation sites. (C) A 30-year-old female patient’s slit lamp photo and ophthalmic UBM report. The patient carries COL5A2 mutation (c.2884C > A p.P962T), presenting with bilateral angle-closure glaucoma. The UBM reveals that the patient’s right eye has a shallow anterior chamber, iris bombe, pronounced anterior and posterior lens surfaces, and increased thickness. MSP = microspherophakia, R/L = right/left, OD = right eye, M = mutation, N = normal