402 results match your criteria Eyelid Coloboma


Conjunctival choristoma with simultaneous eyelid coloboma: A case report.

Asian J Surg 2022 May 7. Epub 2022 May 7.

Department of Ophthalmology, West China Hospital, Sichuan University, Sichuan Province, China. Electronic address:

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Auricular skin-cartilage sandwich graft technique for full-thickness eyelid reconstruction.

Indian J Ophthalmol 2022 Apr;70(4):1404-1407

Oculoplasty and Paediatric Ophthalmology Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India.

Full-thickness deficiency of eyelid tissues can result in coloboma or retraction or both. Here we report our initial experience on the use of auricular skin-cartilage sandwich graft technique for full-thickness eyelid deformities. Five patients (4-32 years) underwent the procedure. Read More

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

J Plast Reconstr Aesthet Surg 2022 Feb 26. Epub 2022 Feb 26.

Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, Shanghai 200011, China; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. Electronic address:

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. Read More

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February 2022

A Novel Surgical Method of Reconstruction for Proboscis Lateralis: A Case Report and Review of the Literature.

Cleft Palate Craniofac J 2021 Nov 10:10556656211053161. Epub 2021 Nov 10.

Department of Plastic Reconstructive and Aesthetic Surgery, Research and Application Center for the Treatment of Cleft Lip and Palate and Craniomaxillofacial Deformities, 37515Hacettepe University Faculty of Medicine, Ankara, Turkey.

Proboscis lateralis (PL) is a rare congenital craniofacial anomaly and it is represented by rudimentary, tube-like nasal structure measuring 2-3 centimetre (cm) length and generally attaches to medial canthal region. A 22-month-old male patient was referred to our clinic with a PL hanging from the right medial canthus and a coloboma on the medial third of the right lower eyelid. Physical examination revealed that the PL was 4 cm long and 1. Read More

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November 2021

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.

Cleft Palate Craniofac J 2021 Oct 29:10556656211050006. Epub 2021 Oct 29.

Division of Molecular Genetics and Cancer, Nitte University Centre for Science Education and Research (NUCSER), 231912Nitte (Deemed to be University), Mangaluru, India.

Objective: Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India.

Design: The study is a case series. Read More

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October 2021

A Novel Intronic Variant as a Cause of Kabuki Syndrome: A Case Report.

Appl Clin Genet 2021 5;14:409-416. Epub 2021 Oct 5.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia.

Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in (OMIM: #147920) and is more common. KS type 2 is caused by mutations in (OMIM: #300867). Read More

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October 2021

Treacher Collins Syndrome: Genetics, Clinical Features and Management.

Genes (Basel) 2021 09 9;12(9). Epub 2021 Sep 9.

Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland.

Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Read More

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September 2021

Scleral Contact Lens as Initial Management in a Neonate With a Large Upper Eyelid Coloboma.

Ophthalmic Plast Reconstr Surg 2022 Jan-Feb 01;38(1):e10-e13

From the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa Hospitals and Clinics, Iowa City, IA.

A neonate presented with a large full-thickness upper eyelid coloboma with near-complete exposure of the cornea. After failing lubrication and a moisture chamber, he was fit with a customized scleral contact lens that protected the ocular surface. It was tolerated well, and ocular surface health was maintained for 13 months to permit the growth of eyelid tissue for future oculoplastic surgery. Read More

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January 2022

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

Orbit 2021 Sep 23:1-5. Epub 2021 Sep 23.

Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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. Read More

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September 2021

Single-stage upper eyelid switch flap for the repair of post-traumatic contracted socket and lower eyelid coloboma.

Orbit 2021 Sep 9:1-3. Epub 2021 Sep 9.

Ocular Prosthesis Service, LV Prasad Eye Institute, Hyderabad, India.

The use of eyelid switch flap in the correction of lower eyelid coloboma in a post-traumatic contracted socket is described. The lower eyelid, inferior fornix and lateral canthus were successfully created in a single stage with a switch flap from the upper eyelid. A satisfactory cosmetic outcome and a stable fornix for placement of a custom ocular prosthesis was achieved. Read More

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September 2021

Ophthalmic manifestations of proboscis lateralis.

BMJ Open Ophthalmol 2021 27;6(1):e000558. Epub 2021 Jul 27.

Department of Community Medicine (Biostatistics), Sri Aurobindo Medical College & PG Institute, Indore, Madhya Pradesh, India.

Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete review of ophthalmic presentations in PL. The principal aim of the present study is to explore the ophthalmic manifestations of PL. Read More

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[A case of CHARGE syndrome confirmed by ophthalmology].

Zhonghua Yan Ke Za Zhi 2021 Aug;57(8):618-620

Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Fourth Military MedicalUniversity, Xi'an 710032, China.

A 31-month-old female patient presented to our department of Ophthalmology in Xijing Hospital with insufficiency closed eyelid in left eye and photophobia for one month. Unsteady gait with asymmetrical face, bilateral auricle deformity and deafness could be observed on the pediatric patient. Esotropia in left eye combined, left facial nerve palsy, with binocular anisometropia was checked out after general eye examination. Read More

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Insight into levofloxacin loaded biocompatible electrospun scaffolds for their potential as conjunctival substitutes.

Carbohydr Polym 2021 Oct 17;269:118341. Epub 2021 Jun 17.

Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhizaoju Road, Shanghai 200011, China; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China. Electronic address:

The rehabilitation of visual acuity with severe conjunctival fibrosis depends on ocular reconstruction with suitable conjunctival substitutes. In this study, we have developed poly(lactic acid) (PLA) electrospun nanofibrous membranes (EFMs) surface coated by cellulose nanofibrils (CNF) and/or silk peptide (SP). The CNF coating improved the hydrophilicity and the SP coating proliferated conjunctival epithelial cells (CjECs). Read More

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October 2021

Lip Commissure to Eyelid Transposition Flap to Correct Eyelid Agenesis in Cats in a Shelter Setting - a Case Series.

Top Companion Anim Med 2021 Nov 4;45:100557. Epub 2021 Jul 4.

Comparative Ophthalmology, Federal University of Parana, Curitiba, Brazil.

Five cats were diagnosed with eyelid agenesis in a 6-month period at the Miami-Dade Animal Services, and a total of 9 blepharoplasties were performed using the lip commissure to eyelid transposition flap (LCET) technique. Eyelid agenesis affected 50%-80% of the superiolateral lid in all cats. Postoperatively, partial necrosis of the flap was observed in 4 and partial dehiscence was observed in 1 of the corrected eyelids, occurring where the buccal mucosa was sutured to the conjunctival mucosa. Read More

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November 2021

-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management.

Cleft Palate Craniofac J 2022 May 8;59(5):637-643. Epub 2021 Jun 8.

37515Hacettepe University Faculty of Medicine, Department of Plastic, Reconstructive and Aesthetic Surgery, Ankara, Turkey.

Aim: The term frontonasal dysplasia (FND) represents a spectrum of anomalies and its genetics have not been well defined. Recently, the critical role of the aristaless-like homeobox () gene family on the craniofacial development has been discovered. In the present study, we aimed to propose a systematic surgical treatment plan for the -related FNDs according to the genotypic classification as well as demonstrating their clinical characteristics to help surgeons diagnose the underlying pathology accurately. Read More

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Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis.

Front Pediatr 2021 20;9:678296. Epub 2021 May 20.

Department of Ophthalmology, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

This study aimed to figure out the association between ophthalmic and pathological features in patients with Linear Nevus Sebaceous Syndrome (LNSS) and in patients with Oculoectodermal Syndrome-Encephalocraniocutaneous Lipomatosis (OES-ECCL). It is a retrospective, non-consecutive, observational case series. Twenty-seven patients (12 with LNSS and 15 with OES-ECCL, 41 eyes) referred to the Department of Ophthalmology of the Shanghai Ninth People's Hospital between 2000 and 2020 were included. Read More

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Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.

Orbit 2021 Jun 7:1-4. Epub 2021 Jun 7.

Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Read More

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Bilateral severe microphthalmos with bilateral colobomatus orbitopalpebral cyst: accessibility of speciality eye-care and rehabilitation services in low and middle-income countries.

BMJ Case Rep 2021 May 24;14(5). Epub 2021 May 24.

Diagnostic and Interventional Radiology, All India Institute of Medical Sciences Jodphur, Jodhpur, India.

A 12-year-old girl presented with an unusually large mass under the right lower eyelid and a smaller mass under the left lower lid since the last 6 months. The parents had noticed the absence of the right eyeball and a very small left eyeball and no vision in both eyes since birth but did not approach the healthcare system. The patient was diagnosed as a case of bilateral severe microphthalmos with colobomatous cyst with late presentation and was treated surgically. Read More

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Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Eur J Med Genet 2021 Jun 30;64(6):104210. Epub 2021 Mar 30.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address:

Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Read More

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Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

J Hum Genet 2021 Oct 27;66(10):1021-1027. Epub 2021 Feb 27.

Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan.

CDK9 has been considered a candidate gene involved in the CHARGE-like syndrome in a pair of cousins. We report an 8-year-old boy with a strikingly similar phenotype including facial asymmetry, microtia with preauricular tags and bilateral hearing loss, cleft lip and palate, cardiac dysrhythmia, and undescended testes. Joint contracture, no finger flexion creases, and large halluces were the same as those of a previously reported patient with homozygous CDK9 variants. Read More

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October 2021

Gene testing in Treacher Collins syndrome

Orv Hetil 2020 12 27;161(52):2201-2205. Epub 2020 Dec 27.

1 Pécsi Tudományegyetem, Általános Orvostudományi Kar, Klinikai Központ, Orvosi Genetikai Intézet, Pécs, József A. u. 7., 7623.

Összefoglaló. A Treacher Collins-szindróma a mandibulofacialis dysostosisok csoportjába tartozó kórkép. Főbb jellegzetességei a maxillaris és mandibularis dysostosis, az antimongoloid szemrések, az alsó szemhéj colobomája, illetve a vezetéses halláscsökkenés. Read More

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December 2020

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.

Mol Genet Genomic Med 2021 02 17;9(2):e1573. Epub 2020 Dec 17.

Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Background: Treacher Collins syndrome-1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygomatic complex and mandible, downslanting palpebral fissures, coloboma of the lower eyelids, and conductive hearing loss.

Materials And Methods: Audiological, radiological, and physical examinations were performed. Read More

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February 2021

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

J Neuroophthalmol 2021 Sep;41(3):e363-e365

Pediatric Ophthalmology Unit (GMB, SP, RC), Children's Hospital A. Meyer-University of Florence, Florence, Italy; and Pediatric Neurology (FM, VC, RG), Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, 50139 Florence, Italy.

Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. Read More

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September 2021

CHARGE syndrome without colobomas: Ophthalmic findings.

Am J Med Genet C Semin Med Genet 2020 09 10;184(3):611-617. Epub 2020 Sep 10.

Cincinnati Children's Hospital, Abrahamson Pediatric Eye Institute, Cincinnati, Ohio, USA.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. Read More

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September 2020

Intraocular Migration of Porous Polyethylene Malar Implant Used for Treacher Collins Eyelid Reconstruction.

Ophthalmic Plast Reconstr Surg 2021 Mar-Apr 01;37(2):e73-e75

Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

Lower eyelid colobomas associated with Treacher Collins syndrome can be challenging to repair because of associated orbital and midfacial dysostosis. Alloplastic implants such as porous polyethylene have been advocated as readily available malar implants to help improve eyelid retraction. The authors report the first case of porous polyethylene implant insidious migration into the orbit with subsequent scleral penetration. Read More

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Use of free oral mucosal graft for treatment of feline eyelid agenesis in seven patients.

Vet Ophthalmol 2020 Jul 11;23(4):659-667. Epub 2020 Jun 11.

Veterinary Specialty and Emergency Center, Levittown, Pennsylvania.

Objective: To describe a simple and effective surgery for feline eyelid agenesis.

Procedure: Free oral mucosal grafts were harvested from the upper lips of the surgical patients. A recipient bed was created by incising the conjunctiva at the conjunctival-skin border and opening a space in the tissue with blunt dissection without removal of tissue. Read More

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Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.

Clin Otolaryngol 2020 09 25;45(5):695-702. Epub 2020 May 25.

Department of Otolaryngology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.

Objective: To investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thailand.

Method: Clinical examination, hearing tests, lateral cephalometric analyses, Computed tomography, whole exome sequencing and Sanger direct sequencing were performed. Read More

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September 2020