RESUMEN
BACKGROUND: Eyelid ptosis may present with upper lid dermatochalasis and brow ptosis. When indicated, ptosis correction (PC) is advocated during upper blepharoplasty (UB). Here, we aimed to report our outcomes following UB and PC. METHODS: A retrospective review of patients that underwent UB from November 2018 to March 2020 was performed. Patient demographics, clinical characteristics, and revisions were recorded. Cox regression was performed to assess predictors of revision. RESULTS: Overall, 278 patients with 533 UB were included. Mean age was 67.3 years. Mean follow-up was 8.3 months. In 169 (31.7%) cases, a browlift was performed. UB and PC were performed in 109 (20.5%) cases, of which 60 (55%) involved Müller's muscle conjunctival resection, and 49 (45%) were levator repairs. New dry eye symptoms lasting ≥3 months occurred in 4 (0.8%) cases, all of which resolved. Revision rate was 3.8% after UB (residual skin [n=11], hypertrophic scar [n=4], Herring's law-related ptosis [n=1]); versus 9.2% after UB and PC (overcorrection [n=4], residual skin [n=4], asymmetry [n=2]). Multivariable analysis demonstrated increased revision rates after UB and PC (p-value=0.008). There was no difference in revision rates between different techniques of PC. CONCLUSIONS: In our study of 278 patients presenting for dermatochalasis, up to 21% of cases required ptosis correction in addition to upper blepharoplasty. Ptosis correction is a safe procedure when combined with upper blepharoplasty, regardless of technique used. The revision rate in our series was 9.2% after the combined procedure, which is greater than the revision rate of upper blepharoplasty only, however, comparable to the literature.
RESUMEN
SPTBN1 encodes ßII-spectrin, the ubiquitously expressed ß-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal ßII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1 variants lead to effects that affect ßII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1 variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of ßII-spectrin in the central nervous system.