Deep lamellar keratoplasty provides a safer and successful alternative to penetrating keratoplasty for keratoconus patients but remains a challenging procedure. Endothelial graft rejection is absent after DALKP. However, stromal graft rejection, although very rare, does occur.

In this study, infection by P acnes was the most common cause of delayed-onset pseudophakic endophthalmitis and had the most favorable visual outcome, whereas fungal endophthalmitis had the worst visual prognosis.

We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl/asparaginyl β-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development.

This case provides support for the practice of obtaining routine fungal cultures of donor rims at the time of corneal transplantation and for the implementation of prophylactic antifungal therapy in culture-positive cases.

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