A healthy 14-year-old girl was evaluated for progressive high myopia. Axial dislocation of her lenses progressed over the next 2 years. Bilateral lensectomy was performed through corneal incisions to prevent angle closure. At 19 years of age, a bilateral circumferential limbal conjunctival elevation developed associated with hypotony. Repair was attempted using scleral autografts over perilimbal darkened scleral sites of aqueous leakage. In time, this repair failed and was followed by persistent bilateral conjunctival distention and hypotony (Figure 1A). At 31 years of age, a conjunctival resection in her left eye was required to allow continued contact lens use. The general physical examination found her to be a healthy, intelligent, and active woman with coarse facial features characterized by nasal prominence, antimongoloid slanting palpebral features, and a lengthy triangular chin (Figure 1B).
What's Your Diagnosis?
For the correct answer, see page 287.
The answer for What's Your Diagnosis? is Traboulsi syndrome secondary to Aspartyl/Asparaginyl ß-Hydroxylase (ASPH) mutation.
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- Shawaf S, Noureddin B, Khouri A, Traboulsi EI. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Ophthalmic Genet. 1995;16:163–169. doi:10.3109/13816819509057858 [CrossRef]8749053
- Patel N, Khan AO, Mansour A, et al. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, or Traboulsi Syndrome. Am J Hum Genet. 2014;94:755–759. doi:10.1016/j.ajhg.2014.04.002 [CrossRef]24768550