Neonatal-Onset Congenital Ectropion Uveae: A Distinct Phenotype of Newborn Glaucoma.

PURPOSE: To describe neonatal-onset congenital ectropion uveae (N-CEU) as a distinct clinical entity of newborn glaucoma (NG) and to study its significance toward the severity and outcome of NG. DESIGN: Prospective clinical cohort study. METHODS: The study took place at a tertiary care postgraduate teaching institute. It included consecutive patients with NG who presented between July 1, 2016 and September 30, 2017, with a minimum postoperative follow-up of 1 year. Infants with any ocular anomaly apart from CEU were excluded. Patients with N-CEU were compared with those with neonatal-onset primary congenital glaucoma (N-PCG). All infants underwent goniotomy or trabeculotomy, with trabeculectomy depending on corneal clarity. Clinical features at presentation and outcome 1 year after surgery were defined as good or satisfactory if intraocular pressure was ≤16.0 mm Hg under anesthesia without or with topical medications, respectively, and poor if the infant required additional surgery. RESULTS: Twenty eyes of 10 patients with N-CEU were compared with 16 eyes of 9 patients with N-PCG. Infants with N-CEU had significantly worse corneal clarity (mean grade 2.0 ± 0.7 vs 1.4 ± 0.8; P = .026) and poorer outcomes compared with those with N-PCG. Seven of 16 (43.7%) eyes with N-PCG had a cornea clear enough at presentation for a goniotomy compared with only 2 of the 20 (10%) eyes with N-CEU (P = .026). Thirteen of 16 (81.2%) eyes with N-PCG had a good or satisfactory outcome compared with 6 of 20 (30%) eyes with N-CEU (P = .001). CONCLUSIONS: N-CEU appears to be distinct from the unilateral CEU in older patients described in the literature and may be considered a poorer prognosis phenotype of neonatal-onset glaucoma.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.

West Nile Neuroinvasive Disease Presenting as Elsberg Syndrome.

INTRODUCTION: Elsberg syndrome (ES) is a rarely recognized cause of cauda equina syndrome and lower thoracic myelitis, mainly linked to reactivation, or occasionally primary, infection with herpes simplex virus type 2. West Nile virus neuroinvasive disease is rarely considered in the differential diagnosis of patients with ES. CASE REPORT: A 63-year-old man with pancreatic cancer in remission and polymyalgia rheumatica on low-dose prednisone presented with a 10-day history of low-back pain and a viral-type illness with low-grade fever, nausea, and vomiting. Days later, he developed left leg monoparesis, neurogenic bladder, and bowel. Magnetic resonance imaging of the lumbar spine revealed a hyperintense signal abnormality within the central spinal cord and conus medullaris with mild swelling of the conus. Cells, proteins, and glucose in cerebrospinal fluid were 67/mm, 70 mg/dL, and 58 mg/dL, respectively. Serology was positive for West Nile virus IgM. Nerve conduction studies and electromyography showed an acute motor neurogenic process affecting left lumbosacral segments. CONCLUSIONS: West Nile virus neuroinvasive disease is an uncommon condition that should be considered in patients with ES. Determining the etiology of ES in the acute setting may avoid unnecessary diagnostic investigations and treatments.

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. CASE PRESENTATION: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. CONCLUSIONS: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.

Reversible cicatricial ectropion associated with EGFR inhibitors.

The management of cicatricial ectropion resulting from epidermal growth factor receptor (EGFR) inhibitors is unclear. We describe two cases of bilateral cicatricial ectropion following the use of an EGFR inhibitor who were treated with oral doxycycline, topical ophthalmic steroid and antibiotic ointment to the eyelids, and topical facial steroid cream with lubrication. The first case resolved with discontinuation of panitumumab infusions along with institution of the aforementioned regimen. However, it is unclear whether the resolution was from discontinuation of the infusions or from the instituted regimen. The second case resolved without a dose adjustment of cituximab. This case may provide support for the use of this regimen prior to discontinuation of the offending agent, as there was a successful outcome without alteration of the infusions. Additional cases are necessary to determine if this is a successful means of treating bilateral lower-lid cicatricial ectropion from EGFR inhibitors.

Punctal function in lacrimal drainage: the 'pipette sign' and functional ectropion.

BACKGROUND: The aim was to assess the movements of the inferior punctum during blinking and discuss pertinent clinical applications. METHODS: This is a prospective, non-comparative observational case-series examining the function of inferior punctum during blinking using video recordings of the blinking action at the slitlamp with slow-motion analysis and comparison. RESULTS: In all 56 eyes of 28 patents, supero-medial movement of the lower punctum toward the medial canthus, together with a medially directed protrusion of the inferior punctum was noted. It was also noted that the punctum blanched during this projectile movement compared to the rest of the lid margin. Simultaneous posterior rotation of the punctum was also observed in 48 eyes (85.7 per cent; 23 right eyes and 25 left eyes), resulting in apposition of the punctum to the lacus lacrimalis. In eight eyes (14.3 per cent; five right eyes and three left) from six patients, co-existence of medial punctal ectropion led to failure of internal rotation of the punctum during blinking, even though punctal 'pipette formation' was preserved. These six patients all suffered from epiphora in the affected eyes. The presence of 'pipette' formation was calculated to have a sensitivity of 80 per cent and specificity of 100 per cent for punctal ectropion in our series. A two-tailed Fisher exact test showed that based on our 56 eyes, these results were statistically significant (p < 0.0001). CONCLUSIONS: The inferior punctum plays an active and important role in the drainage of tears by the mechanism of supero-medial movement and medially directed protrusion ('pipetting action'), failure of which contributes to epiphora. This is a highly specific sign and should be sought in the evaluation of epiphora, even in the absence of frank ectropion. In punctual stenosis where location of the punctal orifice is proving difficult, inducing the pipette sign will help in its identification.

Use of hyaluronic acid gel in the management of cicatricial ectropion: results and complications.

AIMS: To report our experience using hyaluronic acid gel injection in the lower eyelid to treat cicatricial ectropion. METHODS: Clinical records and literature review. RESULTS: Between November 2009 and June 2011, 12 lower eyelids of 11 patients with cicatricial ectropion were treated with hyaluronic acid gel. All 11 patients demonstrated improvement in the eyelid position after treatment but only 3 patients (27.3%) experimented total correction after injection. Although the correction was partial in the majority of the patients, the signs and symptoms associated with conjunctival and corneal exposure improved in all patients. Seven patients (63.7%) developed irregular fullness which resolved over time, but in 4 patients (36.3%) fullness persisted for one year. CONCLUSIONS: In our experience, hyaluronic acid gel is a nonsurgical, minimally invasive and safe technique that improves cicatricial ectropion, but with a poor cosmetic result that limits its use. This treatment could be considered only in patients who decline surgery or are poor surgical candidates, as the aesthetic result would not be acceptable to many.

A case of medial ectropion cured after canaliculoplasty and intubation.

A 79-year-old patient showed left conjunctival injection and bilateral epiphora for years. He was diagnosed with left lower eyelid medial ectropion and bilateral lacrimal obstructions. Lacrimal syringing and a dacryoendoscopic examination showed left upper and lower canalicular obstructions and a right common canalicular obstruction. Canaliculoplasty was performed to the obstruction sites directly by the dacryoendoscope. Bilateral bicanalicular intubation was performed with a three-piece segmented tube. Just after the procedure, the left lower eyelid medial ectropion was also improved. The tubes were left in place for 2 months. The tear meniscus had been well reconstructed and the ectropion continued to improve during this period. Six months postoperatively, the medial ectropion was further improved with an appropriate tear meniscus height.

Entropion-ectropion: the influence of axial globe length on lower eyelid malposition.

PURPOSE: To evaluate the effect of axial globe length and other biometry parameters on age-related lower eyelid malposition. METHODS: Consecutive patients with involutional lower eyelid malposition underwent preoperative biometry with Zeiss IOL Master and Hertel's exophthalmometer prior to surgery. Patients with other causes of eyelid malposition and thyroid eye disease were excluded. GraphPad InStat was used for t test and chi-square statistical analysis. RESULTS: Data on 57 eyelids of 52 Caucasian patients were collected. There were 28 ectropions and 29 entropions. The mean axial globe length in the ectropion group (23.5 mm, standard deviation ± 0.9) was significantly longer than in the entropion group (22.7 mm, standard deviation ± 1.03) (p = 0.008). There was significant sex predilection, with entropion more common in women and ectropion more common in men (p = 0.03). The mean axial globe projection in the ectropion group was 16.6 mm (standard deviation ± 2.4) and in the entropion group was 14.6 mm (standard deviation ± 2.7) (p = 0.002). There was no statistical difference in age, keratometry, amount of astigmatism, and cylinder axis. CONCLUSION: Involutional eyelid malposition directly correlates with axial globe length with the ectropion group having lengthier eyes compared with the entropion group. Hence, axial globe length could be an influential factor in the onset of involutional eyelid malposition.

The lateral tarsal strip in ectropion surgery: is it effective when performed in isolation?

PURPOSE: The lateral tarsal strip (LTS) for involutional ectropion is often performed with a medial spindle (tarsoconjunctival diamond excision). We aimed to evaluate how well the LTS alone can achieve symptomatic relief. METHODS: A retrospective, comparative case series was performed on consecutive patients undergoing LTS alone or with medial spindle for involutional ectropion. Outcomes for LTS alone were clinically derived functional success (improvement in symptoms and aesthetic appearance) and anatomical success (judged by punctal position in the tear lake, punctal movement during blinking and absence of ectropion). We verified if these outcomes compared favourably with those of the patients who had undergone an LTS with medial spindle. Procedure selection was based on pre-operative clinical examination, especially the lateral pinch and twist test (this is described). Complications were also recorded. RESULTS: Of 67 eyes, 23 had LTS alone and 44 had LTS with a medial spindle. Of those having LTS alone the functional success rate was 87% (95% CI (66.4, 97.2%)). This did not differ significantly from a success rate of 89% (75.4, 96.2%) in LTS with a medial spindle (P=0.99). A total of 78% (56.9, 92.5%) of patients undergoing LTS had a good anatomical result compared with 82% (67.3, 91.8%) of those who had an additional medial spindle (P=0.75). Complication rates were similar between the groups. CONCLUSION: Where the lateral pinch and twist test returns the eyelid to a good position, the LTS alone can suffice for the management of involutional ectropion.

[Gillies and McLaughlin's dynamic muscle support in irreversible facial palsy]. / Dynamische Muskelersatzplastik nach Gillies und McLaughlin bei irreversibler Fazialisparese.

The goals in surgical treatment of unilateral long-standing facial paralysis are individual concepts restoring mimetic function, aesthetic facial symmetry at rest and protection of the eye by complete eyelid closure. Facial reanimation with free neuromuscular flaps is the actual standard treatment. The reanimation of the paralysed eyelid is still a major problem. Gillies described in 1934 his technique using the transposition of the temporal muscle with two strips of its own fascia performing a dynamic support of the upper and lower eyelid. McLaughlin was using the temporal muscle in combination with fascia lata for the reanimation of the oral muscle sling (1953). There are still some indications for these procedures. The long-term follow-up of 93 patients with Gillies procedure and 180 patients with McLaughlin's muscle support gives a sound base for decision making in facial reanimation.

Entropion-ectropion: the influence of axial globe projection on lower eyelid malposition.

PURPOSE: To evaluate the effect of axial globe projection on lower eyelid malposition with aging. METHODS: Consecutive patients presenting to 2 oculoplastic surgeons with lower eyelid and tarsal involutional ectropion or entropion underwent axial globe projection measurements with a Hertel exophthalmometer. RESULTS: Data on 36 eyelids of 31 white patients were collected. Axial globe projection in the ectropion group, mu = 19.9, was significantly greater than in the entropion group, mu = 16.1 (p = 0.000021). This held true even when the analysis was confined to the subgroup of male patients. CONCLUSION: Tarsal ectropion directly correlates with more prominent axial globe position, and patients with relatively enophthalmic eyes tend to develop entropion.

Reversible cicatricial ectropion precipitated by topical brimonidine eye drops.

Bilateral cicatricial ectropian was precipitated by topical brimonidine eye drops. On discontinuation of the drug, the ectropian resolved. Patients on brimonidine who develop cicatricial ectropian should not be managed surgically at first presentation.

Drug-induced ectropion: what is best practice?

PURPOSE: To review cases of possible drug-induced ectropion and recommend what we consider to be best practice. DESIGN: Retrospective observational case series. PARTICIPANTS: Thirteen consecutive outpatients. METHODS: Records of 13 outpatients on topical medication presenting with topical drug-induced ectropion were retrospectively analyzed. MAIN OUTCOME MEASURES: Eyelid position, topical agent causing the allergy, and medical and surgical management options. RESULTS: In all 13 patients, the ectropion resolved partially or completely after discontinuing the offending topical agent. Dorzolamide (53%) was the most common offending agent, followed by brimonidine (23%). One of the 13 patients underwent failed ectropion surgery correction before referral, but improved once the topical agent was discontinued. Two of the patients successfully underwent surgical correction for ectropion after discontinuing their topical therapy. Those patients who discontinued the topical therapy and had a short course of steroid therapy did not require surgical correction. CONCLUSIONS: This study demonstrates that sensitivity to topical agents can induce ectropion in more than 1 manner. Chronic exposure to the causative agent leads to cicatricial changes in the anterior lamella of the eyelid in susceptible individuals, and can manifest as contact dermatitis leading to tissue edema and mechanical ectropion. Early recognition of this condition and discontinuation of therapy is of paramount importance; it may lead to complete resolution. Topical steroids are a necessary adjunct in the management of drug-induced ectropion. Based on our experience, we propose a management algorithm for drug-induced ectropion.

Severe post thermal burn cicatricial ectropion with corneal ulceration: an illustrative case.

Management of postburn cicatricial ectroption of the upper lid is always a challenge for the oculoplastic surgeon, as they are often associated with exposure keratitis and ulceration. Traditionally, split thickness grafts have been described for upper lid reconstruction and tarsorrhaphies have been discouraged. We present a case of corneal ulceration associated with postburn cicatricial ectropion presenting 10 years following the initial trauma. The patient underwent full thickness skin grafting and tarsorrhaphy to release the ectropion with resolution of corneal ulceration. We believe that full thickness skin grafts and tarsorrhaphy are effective in correcting upper lid cicatricial ectropion, without functional compromise.

Comprehensive midfacial elevation for ocular complications of facial nerve palsy.

BACKGROUND: A chief morbidity of facial nerve palsy is ocular exposure, which is largely due to lower lid retraction and ectropion. OBJECTIVE: To assess the role of midfacial elevation in the comprehensive surgical treatment of paralytic lower lid malposition and ocular exposure. METHODS: Eleven patients with chronic facial nerve palsy causing symptomatic ocular exposure were treated with subperiosteal midface elevation as a component of comprehensive lower lid elevation. Other procedures were performed concomitantly to treat lower lid ligament laxity and reduced lower lid rigidity, as required. Preoperative and postoperative ocular exposure symptoms, visual acuity, lower lid position, lagophthalmos, and keratopathy were compared. RESULTS: At an average of 17 months of follow-up, all patients reported improvement in symptoms. Visual acuity was maintained or improved in all patients. Lower eyelid position (P =.003), lagophthalmos (P =.07), and keratopathy (P<.001) were also improved. CONCLUSIONS: Midfacial elevation is a safe and effective surgical adjunct in the treatment of lower eyelid retraction in chronic facial palsy. Its use reduces the need for tarsorrhaphy, which limits the binocular visual field and negatively impacts cosmesis.

An algorithm of facial aging: verification of Lambros's theory by three-dimensional stereolithography, with reference to the pathogenesis of midfacial aging, scleral show, and the lateral suborbital trough deformity.

An algorithm of facial aging is presented that serves as the conceptual basis for understanding aesthetic surgical principles and techniques. This model begins with the verification of Lambros's theory of skeletal remodeling. It was suggested that bony changes of the midface may be summarized as a clockwise rotation of the midface relative to the cranial base. Three-dimensional stereolithography/rapid prototyping was used to test this hypothesis. A precisely duplicated facial skeleton was created for young and old men (n = 12) by laser polymerization. Angular measurements confirmed that the angle of the pyriform and maxilla decreased with age (p = 0.004 and 0.005, respectively); there was a trend for the angle of the glabella (frontonasal angle) and orbits to do the same. These results validate Lambros's theory, which serves as a basis to further comprehend the pathogenesis of midfacial aging and the formation of ectropion and scleral show. The algorithm of facial aging is extrapolated from these data, from previous research, and from clinical observation. This model encompasses three main concepts or tenets, and it may serve as a clinical tool for the diagnosis and treatment of facial aging.