A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.

The term isolated ectopia lentis (EL; subluxation or dislocation of the human crystalline lens) is applied to patients with EL, without skeletal features and in the absence of aortic root dilatation. To date, the only gene shown to cause autosomal-recessive isolated EL is ADAMTSL4. Here we report a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral EL. A carrier frequency of 1:48 was determined among unrelated healthy Bukharian Jews. Given the complications associated with disease and the allele frequency, a population screening for individuals of this ancestry is warranted in order to allow prenatal, pre-implantation or early postnatal diagnosis.

Outcomes of Congenital Nasolacrimal Duct Obstruction Surgery Converted into Balloon Dilation and Silicone Intubation due to Probing Difficulty.

Background: To report the outcomes of balloon catheter dilatation and silicone intubation as a sequential secondary surgery under the same anesthesia, a stepwise approach for congenital nasolacrimal duct obstruction (NLDO) when probing and irrigation as primary procedure fails. Methods: A retrospective study included children with NLDO who underwent probing and irrigation only, and those who underwent in the same surgery under anesthesia, adjunct balloon catheter dilation and silicone intubation due to difficulty of the probe passage or fluid regurgitation from the punctum. The primary outcome was surgical success defined as resolution of preoperative symptoms and signs at 1 month. Results: A total of 105 NLDO cases were included. Eighty-four cases underwent probing and irrigation only, whereas 21 cases required balloon dilation and silicone intubation consecutively after the first procedure. Patient age at surgery was higher for those requiring balloon dilatation and intubation (30.3 ± 8.0 months) when compared to those with probing and irrigation only (22.4 ± 10.3 months, p < 0.001). The onset of symptoms, preoperative clinical findings regarding tearing and discharge and gender distribution of patients were comparable between the two groups. During the follow-up, the overall success rate for probing and irrigation only was 76.2% (64 out of 84 cases) and for balloon dilatation and silicone tube intubation was 90.5% (19 out of 21 cases). Conclusions: The surgical team may prepare to proceed with secondary surgery under the same anesthesia after the initial attempt of probing and irrigation. This stepwise two-stage approach in patients with congenital NLDO failing primary surgery resulted in a high success rate with minimal interventions, avoiding repeated general anesthesia.

Continuous oxygen monitoring of the conjunctiva in neonates.

OBJECTIVE: To report the first use of a noninvasive conjunctival oxygen monitor in neonates. We wished to investigate if measuring the partial pressure of oxygen directly from the conjunctiva could track hyperoxia and hypoxia as well as, or better than, pulse oximetry. This has the potential to reflect brain oxygenation while yielding important systemic information. STUDY DESIGN: Criteria standard. SETTING: Tertiary care hospital neonatal intensive care unit. PATIENTS: Ten newborns monitored with pulse oximetry. INTERVENTION: The conjunctival oxygen monitor was studied for effectiveness and safety and compared to pulse oximetry. RESULTS: The device remained on the eyes up to 120 minutes. The correlation coefficient between conjunctival oxygen tension and pulse oximetry was significant for all readings (p<0.001) and for pulse oximetry measurements below 100% (p=0.024). One infant developed eyelid edema, which subsided when the device was removed and one sustained a small corneal abrasion that healed overnight. CONCLUSION: This initial pilot report suggests that the conjunctival oxygen monitor is effective and relatively safe in neonates. The device holds promise to indicate a tissue oxygen reading, which may provide neonatologists with more information about systemic oxygenation.