Demographical status of the 131 probands with fibrillin-1 mutations
| Characteristics | Number (%) | |
| Cases | 131 | |
| Man/woman | 82/49 | |
| Age | 0–3 years old | 17 (12.98) |
| 4–8 years old | 68 (51.91) | |
| 9–20 years old | 19 (14.50) | |
| ＞20 years old | 27 (20.61) | |
| Region | Eastern China | 99 (75.57) |
| Other regions of China | 32 (24.43) | |
| Zonulopathy | Coloboma lentis | 1 (0.76) |
| Microspherophakia | 15 (11.45) | |
| Lens with irregular edge* | 12 (13.63) | |
| Ocular comorbidities | Cataracts | 10 (7.63) |
| Glaucoma | 7 (5.34) | |
| Posterior staphyloma | 41 (31.30) | |
| Strabismus | 8 (6.11) | |
| Ciliary body cyst† | 7 (19.44) | |
| Family history | Positive | 54 (41.22) |
| Negative | 77 (58.78) | |
| Diagnosis‡ | Marfan syndrome | 42 (32.06) |
| Potential Marfan syndrome | 57 (43.51) | |
| Ectopia lentis syndrome | 25 (19.08) | |
| Non-specific connective tissue disorder | 1 (0.76) | |
*Edge of the lens was evaluated in 88 patients with medical records of anterior eye photography.
†Reports were reviewed in 36 patients with medical records of ultrasound biomicroscopy.
‡Diagnoses were not made in six patients due to insufficient evidence.