Familial recurrence of SOX2 anophthalmia syndrome:phenotypically normal mother with two affected daughters

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

An update to monocanalicular stent surgery

Letter to the edito

Alumni Council Meeting, 10.24.58 - 4 of 4

Reel IV Alumni Council Saturday Morning, Oct. 25 [1958] Track A: 9:05 - 9:10 - Katowitz 9:10 - 9:13 - Tenney Peck 9:13 - 9:55 - Questions Track B: 9:55 - 10:35 - Question

"Debulking Optic Nerve Gliomas for Disfiguring Proptosis: A Globe-Sparing Approach by Lateral Orbitotomy (.pdf)

Optic nerve gliomas (ONG) with disfiguring proptosis and severe vision loss usually require a combined intraorbital and intracranial tumor resection. Incomplete tumor removal (Spicer et al.) and associated morbidity using this surgical approach suggests that a less invasive approach may be preferred

Ablepharon-Macrostomia syndrome--extension of the phenotype

Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported