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.

To evaluate the efficacy of intravitreal triamcinolone acetonide in the management of persistent macular edema secondary to nonischemic central retinal vein occlusion (CRVO). Methods: Twenty consecutive patients were selected with a 3-to 4-month history of nonischemic CRVO and persistent macular edema. These patients received a single intravitreal injection of 4 mg of triamcinolone acetonide (40 mg/mL). The follow-up period ranged from 10 to 12 months. The amount of macular edema was assessed by the amount of retinal thickening on clinical examination using the Goldmann contact lens and by the area and intensity of staining on fluorescein angiography. Treated patients were compared with a retrospectively matched group of patients who were managed with observation only. Main Outcome Measures: Changes in visual acuity and amount of macular edema were assessed in the treated patients and compared with the observation group. Results: The mean baseline visual acuity in the treatment group was 20/132 vs 20/123 for the observation group (P=.57). After 1 week, the treated group had a mean visual acuity of 20/51. At final follow-up, the treated group had a mean visual acuity of 20/37 while the observation group had a mean visual acuity of 20/110 (P=.001). Sixty percent of treated patients had a final visual acuity of 20/40 or better vs only 20% in the observation group (P=.01). Forty percent of the untreated patients had a final visual acuity worse than 20/200 while none of the treated patients did (PϽ.001). At final follow-up, 75% of treated patients had complete resolution of macular edema on clinical examination vs only 20% of the untreated patients (PϽ.001). Two of the treated patients had recurrence of macular edema at 6 months, and 3 had elevated intraocular pressure. Conclusion: This study shows a treatment benefit from intravitreal triamcinolone in terms of visual acuity and macular edema for nonischemic CRVO.

Ocular rubbing should be avoided prior to standard corneal topography. The increased surface regularity index may reflect the alterations of the tear film and/or the molding of the corneal surface.

Multiple Sclerosis is associated with deficient serum 25 hydroxyvitamin D (25 (OH)D) level and cognitive impairment. The aim of this study is to evaluate cognitive performance in MS patients with deficient 25 (OH)D (<25 ng/ml) compared to patients with sufficient levels (>35 ng/ml), then to evaluate the change in cognitive performance after 3 months of vitamin D3 oral replacement. Eighty-eight MS patients with relapsing remitting and clinically isolated type of MS, older than 18 years treated with interferon beta were enrolled. Cognitive testing was performed at baseline and at 3 months using the Montreal Cognitive Assessment (MoCA), Stroop, Symbol Digit Modalities (SDMT) and Brief Visuospatial Memory Test (BVMT-R). Serum 25 (OH)D was measured at baseline and at the end of the study. Vitamin D3 replacement improved the MS patients’ cognitive performance after 3 months on the MoCA and BVMT-Delayed Recall (DR). Sufficient serum 25 (OH)D level predicted better cognitive performance on the BVMT-DR at baseline (β: 1.74, p: <0.008) and 3 months (β: 1.93, p: <0.01) after adjusting for all measured confounding variables. Vitamin D3 replacement could improve cognitive performance in MS patients and make a significant difference in the patient’s quality of life.

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