The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10–15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19. The hypothetical protein product is predicted to lead to haploinsufficient SOX2 function. Mosaicism for this mutation in the SOX2 gene was also identified in their clinically unaffected mother in peripheral blood DNA. Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia /microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband.

BACKGROUND The eye is susceptible to damage during dermatologic laser treatments. OBJECTIVE Discuss the anatomy of the eye related to these procedures, the principles of laser–eye interactions, and ocular injuries reported with dermatologic laser treatments. METHODS PubMed and Embase searches were conducted to identify cases of eye injuries associated with dermatologic laser treatments. RESULTS One hundred nineteen cases of eye injury associated with dermatologic laser treatments were identified. Fifty-nine cases targeted the eyelid during resurfacing and caused ectropion, while 60 cases resulted from direct injury of ocular structures. In most of the cases of the latter, improper eye protection was used (44 of 60, 73%). In nearly all these cases, it was the patient who sustained a potentially avoidable ocular injury (52 of 60, 87%). Thirty-one patients had persistent ocular symptoms at follow-up (52%). The most common procedure in this context was laser hair removal of the face (35 of 60, 58%). Most of the cases developed injuries specific for the particular laser based on its wavelength and affinity to target certain ocular chromophores (59 of 60, 98%). CONCLUSION Most of the dermatologic laser–associated eye injury cases have occurred in the context of laser resurfacing or laser hair removal and are potentially preventable.

No abstract