Occult Rosacea Diagnosed After Recurring Blepharoplasty Incision Inflammation.

We report an unusual case of a 58-year-old Caucasian female who developed intermittent eyelid erythema, edema, and wound thickening in the early postoperative period after bilateral upper eyelid blepharoplasty. These flares of inflammation sometimes appeared to respond to systemic antibiotics and steroid preparations and sometimes not. Because of concerns for possible mycobacterial infection, biopsy of the upper eyelid incision was performed and histopathology confirmed rosacea. Symptoms resolved with oral azithromycin. Our patient did not have a diagnosis of rosacea preoperatively. We believe that rosacea should be kept in mind in cases with either prolonged inflammation or recurrent inflammation in previously quiet eyelid incisions.

Can Ophthalmologic Examination Predict Abducens Nerve Recovery After Endoscopic Skull Base Surgery?

OBJECTIVES: While abducens nerve palsy (ANP) is a known risk in the setting of some endoscopic endonasal skull base surgery (ESBS), frequency and prognosis of post-operative palsy remain unknown. Our goals were to determine the frequency and prognosis of ANP after high-risk ESBS, and identify factors associated with recovery. METHODS: Retrospective case series of all patients with pathology at highest risk for abducens nerve injury (pituitary adenoma, chordoma, meningioma, chondrosarcoma, cholesterol granuloma) generated a list of patients with abducens nerve palsy after ESBS performed from 2011-2016. A validated ophthalmologic clinical grading scale measuring lateral rectus duction from 0 to -5 (full motion to inability to reach midline) was measured at multiple time points to assess recovery of ANP. RESULTS: Of 655 patients who underwent ESBS with increased risk of abducens injury, 40 (6.1%) post-operative palsies were identified and 39 patients with dedicated examination at multiple time points were included in subsequent analysis. Complete resolution was noted in 25 patients (64%) within 12 months. While 19 of 23 (83%) with a partial palsy had complete resolution, only six of 16 (38%) with a complete palsy resolved entirely (P = .005; Fisher's exact test). All six patients with delayed onset of palsy resolved (P = .070; Fisher's exact test). Meningioma and chordoma had higher rates of both temporary and permanent post-operative ANP (P < .0001; Fisher's exact). CONCLUSIONS: The frequency of post-operative ANP following ESBS is low, even in high-risk tumors. While only a minority of complete abducens nerve palsies recover, patients with partial or delayed palsy post-operatively are likely to recover function without intervention. LEVEL OF EVIDENCE: IV Laryngoscope, 131:513-517, 2021.

Iris anomalies and the incidence of ACTA2 mutation.

BACKGROUND: Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 (ACTA2) mutations. Children with ACTA2 mutations may also present with congenital mydriasis. We report our experience regarding the frequency of ACTA2 mutation in children with the above iris anomalies. METHODS: This is a retrospective, consecutive case series of all children presenting for iris flocculi or congenital mydriasis at a single tertiary centre from October 2012 to December 2016. RESULTS: 13 children with iris flocculi and 3 with congenital mydriasis presented during the study period. 10 children with iris flocculi completed genetic testing, and none were positive for ACTA2 mutation. All children with congenital mydriasis presented with a multisystem smooth muscle dysfunction syndrome; two of these three children tested positive for missense R179 ACTA2 mutations. CONCLUSIONS: In this series, ACTA2 mutation or copy number variation was not detected in children presenting for iris flocculi, whereas congenital mydriasis was associated with R179 mutation in both cases that tested positive for ACTA2 mutation. The case of congenital mydriasis without typical cardiac features of the R179 ACTA2 phenotype or intracranial vasculopathy was negative for ACTA2 mutation. While all children presenting with these iris anomalies should be offered a genetic evaluation, incidence data should inform genetic counselling, particularly in the absence of a family history of aneurysm or sudden death, or systemic signs of smooth muscle dysfunction.

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis. His mother also showed clinical features of CFNS, but less severe. Genetic tests uncovered a novel C to T mutation at nucleotide 466 (c.466C>T) in exon 1 of EFNB1 for both. To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

Cataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2).

PURPOSE: To report the visual and surgical outcomes after cataract surgery in children with keratolenticular adhesion (Peters anomaly type 2). METHODS: The medical records of consecutive patients with keratolenticular adhesion (KLA) with partial (iris defects)/complete aniridia were retrospectively reviewed. Cataract surgery (in-the-bag irrigation and aspiration) with or without intraocular lens implantation and with or without broad iridectomy was performed. The main outcome measures were postoperative visual acuity, complications, and progression of corneal opacity. RESULTS: The study included 4 eyes of 3 patients ranging in age from 3 months to 7 years. The mean age at cataract surgery was 37 months; the median, 24 months (range, 3-84 months). The mean follow-up was 3.3 years and median was 2 years (range, 2-6 years). Preoperative visual acuity ranged from fixing and following objects to 20/200. Only 1 patient had PAX6 mutation-confirmed aniridia. The other 2 patients had partial iris defects. All eyes improved in visual acuity ranging from counting fingers at 3 feet to 20/60. There was no progression of corneal opacity. There were no postoperative complications. CONCLUSIONS: Children with KLA with complete or partial iris defects with localized corneal opacity and cataract can achieve satisfactory visual outcomes by undergoing meticulous lensectomy with or without iridectomy.

Pediatric cataract: challenges and future directions.

Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract.

Defining success in infant penetrating keratoplasty for developmental corneal opacities.

BACKGROUND AND PURPOSE: Neonatal corneal opacities (NCO) are one of the common causes of visual impairment in infants. We present the two infants with penetrating keratoplasty (PKP) for unilateral NCO with different visual and graft outcomes, and illustrate the importance of timing of surgery, importance of visual rehabilitation, and the lack of necessity of a clear graft to achieve reasonable visual function in infants with NCO. PATIENTS AND METHODS: Two infants with unilateral NCO (Peters anomaly) underwent PKP at age of 5.5 weeks (Case One) and 16 weeks (Case Two). Postoperative optical correction, amblyopia therapy, visual and graft outcomes were recorded. RESULTS: At the last follow-up (9.5 years in both the cases), Case One achieved a best-corrected visual acuity (BCVA) of 20/80 with -22 D of contact lens. The graft had a small clear zone centrally but otherwise was opacified to some extent. Case Two achieved a BCVA of 20/125 at 30 cms eccentrically with a clear graft. Case Two was uncooperative for amblyopia therapy and optical treatment. CONCLUSION: For a successful visual outcome in NCO, early PKP, aggressive amblyopia therapy, optical correction, and commitment from the parents for longterm follow-up and demanding treatment are required.