The Pendulum Movement of Orbital Fat and Retro-Orbicularis Oculi Fat: A New Strategy for Correction of Sunken Eyelid Deformity in Revision Upper Blepharoplasty for Asian Patients.

BACKGROUND: With an increasing number of East Asians undergoing blepharoplasty, the number of patients with secondary upper eyelid deformities is increasing. The sunken eyelid deformity is a common deformity after upper blepharoplasty in Asians due to over-resection, retraction, or atrophy of the nasal and central orbital fat pads. Herein, we present a novel procedure, the pendulum movement of orbital fat and retro-orbicularis oculi fat ("POR" technique), for correction of sunken eyelid deformity in secondary Asian blepharoplasty. METHODS: Patients who underwent secondary upper blepharoplasty with the POR technique by the senior author between January 2020 and October 2021 were identified retrospectively. Those with fewer than 6 months of follow-up were excluded. Patient charts and images were reviewed for demographic data, comorbidities, concomitant eyelid deformities, and postoperative complications. Pre- and postoperative aesthetics, including degree of sunken eyelid deformity, were assessed by two independent raters and by self-reported patient satisfaction. RESULTS: Forty-nine consecutive patients were identified, all of whom were female and had grade I or II sunken eyelid deformity. Median follow-up was 8 months. Concomitant deformities included high tarsal crease (N = 31 patients, 63.3%), ptosis (N = 13, 26.5%), and upper eyelid retraction (N = 5, 10.2%). Almost patients had improvement in their eyelid volume, and 95.9% had improvement in their aesthetic rating. Approximately 93.9% of patients were satisfied with the outcome. CONCLUSIONS: The POR technique is an effective technique for correction of sunken eyelid deformity and can be utilized in conjunction with other techniques during secondary blepharoplasty. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Reconstruction of an Eyelid Defect Associated with Congenital Coloboma in a 7-Month-Old Male Infant Using an Acellular Dermal Allograft.

BACKGROUND Congenital eyelid coloboma in children often faces complications such as keratitis, symblepharon, and amblyopia. Repairing defects involving at least 50% of the eyelid margin can be challenging. Acellular dermal allograft (ADA) has achieved excellent results as a substitute in adult eye plastic surgery, with minimal morbidity. This report describes a case of reconstruction of an eyelid defect in a 7-month-old male infant using an ADA. CASE REPORT A 7-month-old male infant was referred due to congenital eyelid coloboma in the left eye, which affected nearly one-half of the upper and lower eyelids medially, with more than 9 mm of lagophthalmos and lacrimal duct malformation inducing dacryocystitis. Under general anesthesia, A U-shaped silicone drainage tube was inserted in the nasolacrimal duct to ensure an unobstructed lacrimal duct. The symblepharon release, pseudopterygium excision, and medial canthus reconstruction were performed sequentially. Then, the upper eyelid defect was repaired through the advancement of the lateral segment of the eyelid, following lateral cantholysis. A trimmed ADA was placed as a substitute for the tarsal plate in the lower eyelid defect area and sutured with the free edge of the retractor. Finally, the lower and lateral skin orbicular muscle flap was advanced to cover the acellular dermis composite graft. The postoperative eyelid morphology was satisfactory. At 6 months after surgery, lower eyelid retraction gradually appeared. CONCLUSIONS ADA is presented as an effective solution for reconstructing significant eyelid defects of infants. However, the potential of postoperative eyelid retraction still deserves future research and refinement in surgical techniques.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting.

Modified Levator Resection Technique for Moderate Congenital Blepharoptosis.

BACKGROUND: For moderate ptosis associated with fair levator function (LF), the levator resection is the most commonly used procedure. However, the levator resection technique still has some disadvantages, such as residual lagophthalmos (RL), undercorrection, conjunctival prolapse, and eyelid contour abnormality. To solve the above problems, our team have made modifications to the levator resection technique in three aspects: releasing the levator muscle sufficiently, preserving the supporting structure of the conjunctiva, and placing multiple suture sites. METHODS: Fifty-seven patients (81 eyes) underwent the modified levator resection technique and were enrolled in the study. Preoperative data collected included age, sex, margin reflex distance 1 (MRD1), and LF. Postoperative data collected included MRD1, RL, patient satisfaction, complications, and length of follow-up. RESULTS: Mean MRD1 significantly increased from 1.45 ± 0.65 mm preoperatively to 3.57 ± 0.51 mm postoperatively. Mean LF significantly increased from 6.49 ± 1.12 mm preoperatively to 9.48 ± 1.39 mm postoperatively. Successful correction was obtained in 77 eyes (95.1%). Mean RL was 1.09 ± 0.57 and 72 eyes (88.9%) showed excellent or good eyelid closure function. Fifty-four patients (94.7%) were completely satisfied with the final result. Complications such as hematoma, infection, conjunctival prolapse, suture exposure, corneal abrasion, and keratitis were not found in any cases during follow-up. CONCLUSION: This modified levator resection technique introduced in this study is effective in correcting moderate congenital blepharoptosis, while minimizing RL, undercorrection, conjunctival prolapse, eyelid contour abnormality by releasing the levator muscle sufficiently, preserving the supporting structure of the conjunctiva, and placing multiple suture sites. LEVEL OF EVIDENCE IV: This journal requires that authors 42 assign a level of evidence to each article. For a full 43 description of these Evidence-Based Medicine ratings, 44 please refer to the Table of Contents or the online 45 Instructions to Authors www.springer.com/00266 .

Severe Eyelid Malformation With Facial Clefting and Amniotic Bands.

Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying genetic cause of amniotic band sequence. Here, the authors review the case of an infant born with large, 4-eyelid colobomatous defects in the setting of facial clefts, amniotic bands and an underlying SMOC1 mutation, which has not previously been linked to amniotic band sequence or eyelid colobomas. Reconstructive technique and the postoperative course are described, and underlying etiologic theories of amniotic band sequence are reviewed and expanded upon. Although amblyopia prevention in this patient with poor visual potential was not a consideration, the goals of improving the patient's ocular surface and maintaining eye contact were achieved.

Levator muscle resection for simple congenital ptosis: its impact on preoperative levator function and dose-response ratio.

OBJECTIVE: The primary aim of this study is to calculate the dose-response ratio in patients with different levels of levator function following levator resection in simple congenital ptosis. The secondary outcome is to evaluate the success rate and effect of levator resection on postoperative levator function. METHODS: In a retrospective study, the medical records of patients were reviewed for age, gender, laterality, preoperative and postoperative measurements (palpebral fissure height, marginal reflex distance 1, and levator function), magnitude of levator resection, follow-up time, and postoperative complications. RESULTS: Of 154 patients with a mean age of 17.12 ± 11.14 years, 54 patients had excellent levator function, 41 had good function, and 59 had fair function. Following surgery, the mean levator function increased from 8.81 ± 3.40 mm to 11.29 ± 3.25 mm. The magnitude of increase in the 3 groups of excellent, good, and fair was 3.18 ± 2.63, 2.53 ± 2.24 and 1.92 ± 1.80 mm, respectively. The rate of success was 81.8% with no statistically significant difference in the 3 groups. In a multivariate logistic regression, older age, local anaesthesia, and milder ptosis were predictors of success. A table of dose-response ratios was calculated that determined the amounts of levator muscle resection for 1 mm of marginal reflex distance 1 and levator function increase. CONCLUSIONS: Levator resection has high success rate in patients with simple congenital ptosis. The function of levator muscle improved significantly following surgery, and the rate of improvement was higher in patients with better preoperative levator function.

Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital eyelid syndrome. Several associations, including the horizontal displacement of the puncta, canalicular stenosis, and ectropion have been so far described. Herein, we report a one-year-old boy presented to the Oculoplastic Clinic of Farabi Eye Hospital with complaint of watery discharge from both eyes since his birth. Based on the general appearance, the diagnosis of BPES was made. Mild tear regurgitation from the inferior punctum was noted. Detailed examination showed bilateral superior punctal agenesis with coloboma of both upper eyelids and lateral displacement of the inferior puncta. Multiple unsuccessful attempts of probing were suggestive of the presence of NLDO. The patient was managed by performing canaliculodacryocystorhinostomy. Osteotomy was performed to pass the canalicular and nasolacrimal obstruction followed by a successful canaliculoplasty. Finally, the lacrimal drainage system was intubated with a mono-Crawford from the inferior punctum into the nasal cavity. On the 1st-month follow-up visit, the complaint of watery discharge was resolved. This is an extremely rare report of nasolacrimal duct and sac anomaly in a patient with blepharophimosis. Thus, we recommend the evaluation of the nasolacrimal drainage system in these patients after the first month of birth.

Congenital eyelid imbrication syndrome in a Hispanic newborn: case report and review of the literature.

A 6-hour newborn boy presented with bilateral overriding of the upper eyelids during sleep and spontaneous eyelid eversion. Physical examination revealed canthal tendon laxity and hyperemia of the tarsal conjunctiva of both eyes. A diagnosis of congenital eyelid imbrication syndrome (CEIS) was established. The cornea and remaining adnexal structures were healthy; therefore, conservative management with lubricant ointment was initiated. On day 4, complete resolution of upper eyelid overriding and absence of spontaneous eversion was observed. CEIS is a rare eyelid malposition disorder in which the upper eyelid overrides the lower. Most CEIS cases described in the literature present at birth, occur in Asian patients, are associated with floppy eyelid, and resolve spontaneously. The authors present the first report of CEIS in a Hispanic newborn and a literature review of previously reported cases.

[Palpebral marginoplasty in the management of distichiasis: About 104 eyes]. / La marginoplastie palpébrale dans la prise en charge du distichiasis : à propos de 104 yeux.

Distichiasis is an anomaly of the of the eyelid margin characterized by the presence of a second row of eyelashes arising from the posterior lamella. It is a rare condition whose severity is related to corneal complications. There are two forms: congenital and acquired, the latter of which is the most frequent in our population, resulting mainly from chronic inflammation. There are several treatment modalities, the choice of which is up to the practitioner depending on the means at his or her disposal and the risk-benefit ratio. We report a series of 104 eyes (90 patients) undergoing surgery for distichiasis using the marginoplasty technique with labial mucosal autograft, collected between January 2000 and September 2021. The main indication was any distichiasis with more than seven lashes per eyelid. The mean age of the patients was 65.5 years. With a mean follow-up of over 24 months, a reduction in functional signs was noted in over 95% of cases. The success rate after marginoplasty with labial mucosal autograft alone was 82.7%. The recurrence rate was 17.3%, which patients underwent additional treatment by argon laser photoablation with very good final results (96% final success rate). Marginoplasty with labial mucosal autograft represents a technique of choice in distichiasis threatening the cornea, particularly in cases of distichiasis with a significant number of eyelashes to be treated.

Clinical features and orbital anomalies in Fraser syndrome and a review of management options.

Purpose: Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser syndrome. Methods: The authors retrospectively evaluated the records of patients with Fraser syndrome who had presented to a tertiary eye care hospital in northern India in the last 2 years (from January 2019 to December 2020). The clinical features were studied, entered in MS Excel, and the data was evaluated. Results: Data of 15 patients with Fraser syndrome were found. Majority of the patients were males and presented in the pediatric age group. Bilateral involvement was more common, and the most common variant of cryptophthalmos was abortive. Complete and medial madarosis of the eyebrows was the most common periocular finding. Complete cryptophthalmos was associated with cystic globes, whereas abortive forms had superior symblepharon. Common systemic features included syndactyly, bifid nose, and urogenital anomaly. Conclusion: Fraser syndrome is an extremely rare developmental disorder; it encompasses a wide range of ocular, periocular, and orbital anomalies, along with multiple pre-existing systemic anomalies. The treating ophthalmologist should always be careful in examining these patients.

Ophthalmic features and management of 86 patients with cryptophthalmos-A refined classification to assist in surgical planning.

BACKGROUND/AIMS: This study aimed to describe a cohort of patients with cryptophthalmos (CO), characterize associated oculofacial abnormalities, and expand the classification to summarize surgical strategies for managing CO. METHODS: A retrospective, interventional case series was conducted on 86 patients (124 eyes) with CO. The study proposed further classifying complete and incomplete CO into cyst, microphthalmia, anophthalmia, and normal eyeball based on globe structures and then modifying surgery accordingly. The demography, ophthalmic features, systemic anomalies, operation methods, and treatment outcomes were reviewed. RESULTS: CO was complete in seven eyes (5.6%) and incomplete in eight eyes (6.5%). A total of 109 eyes (87.9%) of abortive CO were encountered. Among 15 eyes (13 patients) of complete and incomplete types, 9 (60.0%) eyeballs were identified as cysts, 3 (20.0%) as microphthalmia, 1 (6.7%) as anophthalmia, and 2 (13.3%) as normal eyeballs. Cyst reduction was performed in eight eyes and one patient underwent enucleation with hydroxyapatite implantation. The socket was fit with an ocular prosthesis or a conformer after fornix and eyelid reconstruction. Microphthalmia was enucleated, and hydroxyapatites were implanted; patients were fit with ocular prosthesis or conformer after fornix and eyelid reconstruction. A complete CO with normal eyeball was reported with the eyesight of hand movement after ocular surface reconstruction. The upper eyelid contour and adequate fornix were maintained after coloboma repair and fornix reconstruction in all patients with abortive CO. CONCLUSION: This study demonstrates the clinical manifestations of different types of CO and expands the manifestation spectrum, proposing a refined classification of CO and modifying surgical strategies accordingly.

A Combination of Three-Step Lower Blepharoplasty to Correct Four Types of Lower Eyelid Deformities in Asian People.

BACKGROUND: This study aimed to propose a novel four-type deformity and treatment-oriented classification of the lower eyelids that directs the therapeutic combination of three-step lower blepharoplasty for Asian populations. METHODS: We reviewed 183 patients who underwent a therapeutic combination of three steps of lower blepharoplasty after being diagnosed with four types of lower eyelid deformities between July 2018 and April 2021. The three-step lower blepharoplasty includes: (1) mid-face and lower eyelid augmentation, (2) transconjunctival eye bag removal, and (3) skin pinch removal. Consecutive digital images, detailed fat graft volume, fat removal amount, skin pinch removal amount, complications, and patient's satisfaction and aesthetic improvement score were recorded. RESULTS: The overall patient's satisfy score is 91. Aesthetic improvement score is 80.2 and 83.3 among lay persons and experts, respectively. The volume of the fat graft ranges from 2 to 3 mL per orbit according to the severity of the deformity. The amount of fat removed was 0.53 ± 0.36 and 0.61 ± 0.40 mL per orbit in types II and III patients, respectively. There is no lower lid malposition. Eleven patients had over-correction of fat grafting, and they need steroid injection; 20 patients had under-correction of fat grafting, and they need secondary fat grafting. Ten patients need secondary skin pinch excision due to post-op skin redundancy. Two patients had conjunctiva wound granuloma. CONCLUSIONS: The combination of three-step lower blepharoplasty according to the novel classification is a straightforward and effective method to correct lower eyelid deformities. The complication rate was low with high patient satisfaction. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.

FREM2 is a member of the FREM2-FRAS1-FREM1 protein complex which contributes to epithelial-mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect. A compound heterozygous mutation (c.6499C>T; p.Arg2167Trp and c.641_642del; p.Glu214GlyfsTer135) in the FREM2 gene was identified. The frameshift variant p.Glu214GlyfsTer135 is de novo and novel. It is predicted to result in the loss of most of the functional domains. The p.Arg2167Trp mutation was predicted to disrupt both Ca2+ binding and conformational change. The Arg2167Trp mutant protein has been shown to cause partial loss of function, decrease its interaction with FREM1 and result in impaired function of the FRAS1-FREM2-FREM1 complex. Frem2 was shown to be expressed in the developing tooth and vestibular lamina. It is hypothesized that these mutations resulted in aberration of the FRAS1-FREM2-FREM1 protein complex, resulting in loss of nephronectin, basement membrane disruption, and abnormal epithelial-mesenchymal interactions leading to dental and oral vestibule malformations.

Use of subdermal hyaluronic acid injections and a free labial mucocutaneous graft for the repair of feline eyelid agenesis.

OBJECTIVE: To describe a technique to repair feline eyelid agenesis using a hyaluronic acid (HA) subdermal filler injection to allow for acute soft tissue expansion, followed by a free labial mucocutaneous graft. MATERIALS AND METHODS: Thirty-nine colobomatous eyelids in 24 feline patients with secondary keratitis were recruited to the study group. RESULTS: Keratitis and trichiasis were markedly resolved in 27/39 (69.2%) eyelids after a single procedure. Post-operative HA subdermal filler injections were required to resolve 5/39 (12.8%) eyelids that had mild post-operative trichiasis, and 1/39 (2.5%) eyelids that had post-operative lateral canthal collapse. Complications occurred in 6/39 (15.4%) cases, consisting of distal graft necrosis (n = 2 eyes), suture rubbing the cornea (n = 2 eyes), moderate trichiasis (n = 1 eye) and graft adherence to the episclera (n = 1 eye). CONCLUSION: The technique was successful in enhancing corneal protection, cosmesis and eyelid function and should be considered as a surgical option for any degree of eyelid agenesis in feline patients.

Congenital Eyelid Imbrication and Floppy Eyelid Syndrome in a Patient With Cat Eye Syndrome.

A newborn male with cat eye syndrome presented with progressively worsening bilateral upper eyelid imbrication, floppy eyelids, and ptosis. Despite conservative management, he remained unable to open his eyelids. Surgical correction was planned to prevent bilateral sensory deprivation amblyopia and was delayed until 5 months of age due to systemic health concerns. Bilateral full-thickness wedge excision and frontalis suspension with silicone rods in a double rhomboid fashion was performed. Postoperatively, the patient demonstrated spontaneous eyelid opening, resolution of spastic eversion of the upper eyelids, and adequate eyelid closure. The authors present the first case of concurrent floppy eyelid syndrome and upper eyelid imbrication reported in a cat eye syndrome patient.

Spectrum approach to congenital ectropion / Abordagem espectral do ectrópio congênito

ABSTRACT In the literature, there is a confusing classification among congenital floppy eyelid, eyelid eversion and ectropion. They are described as eyelid malposition with laxity and out-turning of the eyelids in newborns, usually associated with conjunctival prolapse and chemosis. Although the underlying pathophysiology of these rare conditions is obscure, they share anatomic characteristics. Thus, instead of a plethora of denominations, a spectrum approach should join these entities. In this paper, the authors present a case series of four patients that illustrates distinctive presentations of this condition and advocate that it should be considered as variants of a spectrum of congenital ectropion. Mild cases, when promptly treated, can benefit from clinical treatment. On the other hand, severe and delayed cases will need surgical correction as in the case of acquired ectropion.

RESUMO Na literatura, existe uma classificação confusa entre floppy eyelid congênita, eversão palpebral e ectrópio congênito. Essas afecções são similarmente descritas como pálpebras frouxas e evertidas em recém-nascidos e geralmente associadas a prolapso de conjuntiva e quemose. Embora a fisiopatologia dessas raras afecções seja incerta, elas apresentam íntimas características anatômicas em comum. Assim, ao invés dessa nomenclatura variada, seria interessante incluí-las em um espectro de uma só doença. Neste artigo. apresenta-se uma série de quatro casos que ilustram diferentes apresentações dessa afecção e propõe-se que todas devam ser consideradas variações do espectro de ectrópio congênito. Casos leves são beneficiados quando tratados precocemente. Por outro lado, casos mais graves ou que são tratados tardiamente necessitarão de procedimento cirúrgico semelhante ao ectrópio adquirido.

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.

Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including hearing loss, clinodactyly, rotated thumbs, tapered fingers, and simplified palmar crease. Trio genome sequencing (GS) identified three molecular diagnoses in this individual: compound heterozygous missense variants associated with polymerase III (Pol III)-related leukodystrophy, a 4-Mb de novo copy-number loss including the MYCN gene associated with Feingold syndrome, and a mosaic single-nucleotide variant associated with COL2A1-related disorders. These variants fully account for the individual's features, but also illustrate the potential for superimposed and unclear contributions of multiple diagnoses to an individual's overall presentation. This report demonstrates the advantage of GS in detection of multiple variant types, including low-level mosaic variants, and emphasizes the need for comprehensive genetic analysis and detailed clinical phenotyping to provide individuals and their families with the maximum benefit for clinical care and genetic counseling.