Congenital eyelid imbrication syndrome: A rare occurrence in Pakistan.

Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to longer upper lid, than the lower lid. Overriding leads to spontaneous eversion of the upper lids. In our patient, examination revealed canthal tendon laxity and hyperaemia of the tarsal conjunctiva. All the rest of the structures in the eyeball and adnexa were normal. Spontaneous eversion occurred in two weeks as the upper lid grew with time. No treatment was required.

Modified Reverse Hatchet Flap for Ablepharon-Macrostomia Syndrome.

Ablepharon-macrostomia syndrome is a rare disorder characterized by TWIST2 mutations and anterior lamellar dysgenesis. Timely intervention is critical to prevent exposure keratopathy, corneal ulceration, and permanent vision loss. We report a novel approach to multiplanar eyelid reconstruction in ablepharon-macrostomia syndrome involving use of a modified reverse hatchet flap in 1 lower eyelid along with division at the eyelid margin, recession of the eyelid retractors in conjunction with preputial skin grafting for anterior lamellar restoration in the other 3 eyelids.

Atypical facial clefts: Tessier number 3 and 4 clefts.

PURPOSE OF REVIEW: Tessier number 3 and 4 clefts result from failed fusion of facial processes during embryogenesis, and cause functional, psychosocial, and cosmetic morbidity. Given their rarity and heterogeneity, they present a unique challenge to the reconstructive surgeon, with limited literature for guidance. The purpose of this update is to summarize Tessier number 3 and 4 clefts with a focus on recent literature and expert opinion. RECENT FINDINGS: The incidence of atypical facial clefts has been estimated between 1.4 and 4.9 per 100 000 live births. Several retrospective chart reviews have been published in recent years; however, the epidemiologic data remains limited. Surgical management must be individualized and guided by classic reconstructive principles. The goal of surgery is to return the three soft tissue components (lip, nasomalar, and eyelid) to their proper anatomical location. SUMMARY: Tessier number 3 and 4 clefts are rare, demonstrate a wide spectrum of clinical presentation, and remain challenging to gain a breadth of experience for any single surgeon. They are classified based on their location along well defined anatomical axes. Component repair is performed with attention to the lip, nasomalar, and eyelid regions to restore facial symmetry and function.

Surgical Management of Overgrowth Syndrome With Bilateral Vision-Threatening Ptosis.

We describe the first case reported in ophthalmological literature of the surgical management of a 17-month-old boy with bilateral vision-threatening ptosis, tarsomegaly, ectropion, and euryblepharon secondary to suspected overgrowth syndrome. We elaborate on the major challenges associated with surgical management including the natural and asymmetric growth of oversized tissue, the high likelihood of scarring and formation of disorganized tissue, and risks of frequent intubation in these patients who may have lesions that compromise critical structures such as the airway. Ultimately, surgical intervention is encouraged primarily if vision or ocular health is threatened and secondarily to achieve good cosmesis.

Quantitative analysis of the eyelid curvature in patients with blepharoptosis.

BACKGROUND: The aim of this study was to evaluate the ability of two novel eyelid curvature measurements to distinguish between normal eyes and different severities of blepharoptosis. METHODS: A comparative cross-sectional analysis of upper eyelid curvature was performed for different severities of patients with unilateral blepharoptosis (congenital and aponeurotic) and normal controls. Mean upper lid contour index (ULCI) and area circularity index (ACI) were calculated for each group by dividing the intercanthal distance by upper eyelid margin length (ULCI) and dividing the interpalpebral area by the area of a circle enclosing the eye (ACI). The ratio of each index for the study and fellow normal eye of each patient was also calculated and compared between groups. RESULTS: A total of 106 eyes including 30 eyes in the control group and 25, 27, and 24 eyes in the mild, moderate, and severe ptosis groups were enrolled in the study. ULCI and ACI showed a statistically significant difference between the groups (p < 0.001, p < 0.001). The inter-eye ratio (ULCI-ratio and ACI-ratio) of indices was also significantly different between groups (p = 0.002, p < 0.001). Pairwise comparisons revealed that ACI and ACI-ratio were significantly different between all pairs of study groups. CONCLUSION: The results of our study showed that ACI based on area measurements may distinguish blepharoptosis patients from normal controls and from each other. Including the data from the fellow normal eyes in the form of ratio indices may improve the differentiating power. These results can be useful in designing the optimal eyelid curvature measurements.

Lacrimal Sac Characteristics in Patients With Punctal and Canalicular Agenesis: Punctum Update (PUP) Study-Paper 3.

PURPOSE: To explore the endoscopic and histopathologic characteristics of the lacrimal sac (LS) and the nasolacrimal duct in cases with punctal agenesis presenting with LS swellings. METHODS: This is a prospective, interventional study of 13 LSs of 8 patients presenting with punctal agenesis and LS swellings over a 5-year study period (June 2018-July 2023). Complete ophthalmic examination was performed along with CT scans of the orbits. The LS was exposed with an anterior lacrimal crest incision and explored. The exterior and interior of the sac swelling were examined and LS flaps were sent for histopathological analysis. RESULTS: The mean age of the patients was 23 years with a male:female ratio of 5:3. All patients presented with swelling in the LS region. Occasional epiphora was the presenting feature in 6 patients. All patients had both upper and lower punctal agenesis on the affected side with associated LS swelling. CT scans showed a hypodense cystic swelling with expansion of the LS fossa and bony nasolacrimal duct ending abruptly short of the inferior meatus. Intraoperatively, the LS had thin, translucent walls with mucoid secretion and an absence of common canalicular opening. Histopathological analysis showed epithelium consistent with LS with less robust development of the sac walls and poorly structured lacrimal drainage-associated lymphoid tissue with scanty stromal inflammation. CONCLUSIONS: The development of LS and the nasolacrimal duct is structurally affected in patients with punctal agenesis. Retrograde approaches for epiphora resolution are not logical in such cases but conjunctivodacryocystorhinostomy with Jones tube can be a feasible option.

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.

Congenital Eyelid Imbrication and Floppy Eyelid Syndromes Complicated by Eversion due to Prostaglandin E Infusion in a Patient With Trisomy 21 and Tetralogy of Fallot.

Congenital eyelid imbrication syndrome is a rare eyelid finding where a long upper lid overlaps the lower lid when the eyes are closed. To date, congenital eyelid imbrication syndrome has been described in the literature less than 10 times. We present a case of congenital eyelid imbrication syndrome in a patient with trisomy 21 and tetralogy of Fallot on a prostaglandin E infusion to maintain a patent ductus arteriosus prior to definitive heart surgery. While on the infusion, the patient developed peripheral edema and flushing due to vasodilation. This coincided with eyelid swelling, conjunctival chemosis, and eversion of the eyelids. Upon cessation of the prostaglandin E1 infusion, his eyelid eversion resolved.

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.

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.

MYCN, a member of the MYC proto-oncogene family, regulates cell growth and proliferation. Somatic mutations of MYCN are identified in various tumors, and germline loss-of-function variants are responsible for Feingold syndrome, characterized by microcephaly. In contrast, one megalencephalic patient with a gain-of-function variant in MYCN, p.Thr58Met, has been reported, and additional patients and pathophysiological analysis are required to establish the disease entity. Herein, we report two unrelated megalencephalic patients with polydactyly harboring MYCN variants of p.Pro60Leu and Thr58Met, along with the analysis of gain-of-function and loss-of-function Mycn mouse models. Functional analyses for MYCN-Pro60Leu and MYCN-Thr58Met revealed decreased phosphorylation at Thr58, which reduced protein degradation mediated by FBXW7 ubiquitin ligase. The gain-of-function mouse model recapitulated the human phenotypes of megalencephaly and polydactyly, while brain analyses revealed excess proliferation of intermediate neural precursors during neurogenesis, which we determined to be the pathomechanism underlying megalencephaly. Interestingly, the kidney and female reproductive tract exhibited overt morphological anomalies, possibly as a result of excess proliferation during organogenesis. In conclusion, we confirm an MYCN gain-of-function-induced megalencephaly-polydactyly syndrome, which shows a mirror phenotype of Feingold syndrome, and reveal that MYCN plays a crucial proliferative role, not only in the context of tumorigenesis, but also organogenesis.

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.

[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.

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.