381 results match your criteria Eyelid Coloboma


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

Eur J Med Genet 2021 Mar 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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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 2020 Oct 26. Epub 2020 Oct 26.

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.

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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October 2020

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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Total and near-total lower eyelid reconstruction with prefabricated orbicularis oculi musculocutaneous island flap.

Dermatol Ther 2020 05 16;33(3):e13372. Epub 2020 Apr 16.

Department of Plastic Reconstructive and Aesthetic Surgery, Faculty of Medicine, Bulent Ecevit University, Zonguldak, Turkey.

Full thickness lower lid defects are frequently encountered during daily practice. The unique anatomy of the eyelids hinders reconstructive efforts. The aim of the study is to develop an effective and easy procedure for the reconstruction of full thickness defects of the lower eyelid. Read More

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Ocular and adnexal anomalies in craniofacial microsomia: a systematic review.

Int J Oral Maxillofac Surg 2020 Sep 23;49(9):1107-1114. Epub 2020 Mar 23.

The Dutch Craniofacial Centre, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, USA; Division of Plastic and Reconstructive Surgery, Department of Surgery, The Hospital for Sick Children, Toronto, Canada.

Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in order to estimate the need for ophthalmological screening in CFM patients. Online databases were searched, and data on the number of patients, type and incidence of ocular anomalies, and visual acuity were extracted. Read More

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September 2020

Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome.

Int Ophthalmol 2020 Mar 23;40(3):667-675. Epub 2019 Nov 23.

Department of Ophthalmology, Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Purpose: To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS).

Methods: Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files. Read More

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Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population.

Orbit 2020 Oct 13;39(5):325-330. Epub 2019 Nov 13.

Oculoplastic and Orbit Division, King Khaled Eye Specialist Hospital , Riyadh, Saudi Arabia.

Purpose: To study the clinical features, histopathology, and management of congenital upper eyelid coloboma (CEC) in the Saudi population.

Methods: A retrospective review of health records evaluated the demographics, histopathology, and surgical outcomes of patients with CEC.

Results: Thirty-nine eyelids of 27 patients were included in this study. Read More

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October 2020

LIP-TO-LID TRANSPOSITION AND HUSBANDRY MANAGEMENT FOR SEVERE BILATERAL EYELID COLOBOMA IN THREE SNOW LEOPARDS ().

J Zoo Wildl Med 2019 Sep;50(3):688-695

Oklahoma Veterinary Specialists, Tulsa, OK 74132, USA.

Three sibling snow leopard () cubs were evaluated shortly after birth and found to have bilateral eyelid colobomas involving >50% of the upper central and lateral lid margins. The cubs also had iris to cornea persistent pupillary membranes and developed varying degrees of keratitis caused by trichiasis and exposure. No fundic abnormalities were noted. Read More

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September 2019

Craniofacial Cleft: A Case of Tessier 10 Cleft With a Novel Method to Repair Large Bilateral Colobomas.

Cleft Palate Craniofac J 2019 11 3;56(10):1377-1380. Epub 2019 Jun 3.

Department of Plastic and Reconstructive Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Objective: To describe a reliable method utilizing large, rotation flaps to reconstruct a number 10 Tessier cleft.

Design: This is a descriptive clinical case report.

Setting: Pediatric teaching hospital affiliated with a university. Read More

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November 2019

Proboscis Lateralis With Heminasal Hypoplasia.

J Craniofac Surg 2019 May/Jun;30(3):e254-e255

Department of Surgery, Division of Plastic and Reconstructive Surgery, American University of Beirut Medical Center, Lebanon.

Proboscis Lateralis is a rare congenital anomaly composed of an accessory tubular appendage with possible associated craniofacial anomalies. Computed tomography scan is essential for evaluation of the anomaly and proposing a plan of management. Treatment is complex and should be individualized. Read More

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Lateral Canthal Clefts of the Eyelid.

Ophthalmic Plast Reconstr Surg 2019 Sep/Oct;35(5):491-494

Division of Plastic Surgery, Rio de Janeiro State University. Rio de Janeiro, Brazil.

Purpose: Facial clefts are congenital anomalies classified by Tessier based on their anatomical position. Tessier 8 craniofacial clefts extend from the lateral canthus to the temporal region, including bone cleft at the frontozygomatic suture, and it is characterized by the interposition of a strip of skin at the lateral canthus that disrupts the continuity of the orbicularis muscle, preventing its normal functioning.

Methods: This is a retrospective study of 6 patients with congenital eyelid coloboma, of whom 5 underwent surgery for the removal of dermolipoma and reconstruction of the lateral canthus. Read More

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January 2020

Management of median and paramedian craniofacial clefts.

J Plast Reconstr Aesthet Surg 2019 Apr 9;72(4):676-684. Epub 2019 Jan 9.

Division of Plastic, Reconstructive and Esthetic Surgery, Department of Surgery, Geneva University Hospitals and Faculty of Medicine, 4 Rue Gabrielle Perret-Gentil, 1211 Geneva 14, Switzerland.

Background: Median and paramedian craniofacial clefts are associated with hypertelorism, anterior encephalocele, positional abnormalities of the maxilla, and nasal deformity. Cleft lip and palate, eyelid coloboma, and widow's peak are frequently present.

Methods: The authors collected data from 30 patients (mean age, 5. Read More

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Use of equine amniotic membrane free-island grafts for treatment of a midstromal corneal ulcer and descemetocele in a snow leopard (Panthera uncia).

J Am Vet Med Assoc 2018 Dec;253(12):1623-1629

CASE DESCRIPTION A 7-year-old sexually intact female snow leopard (Panthera uncia) was examined because of blepharospasm, periocular discharge, ventral deviation of the upper eyelid cilia, third eyelid prolapse, and corneal opacity of the right eye. CLINICAL FINDINGS An ophthalmic examination performed with the patient anesthetized revealed a 3 × 3-mm ulcer that extended approximately 60% of the depth of the right cornea and was accompanied by perilesional and intralesional cellular infiltrates and active vascularization. The upper eyelid of the right eye also had a previously repaired coloboma resulting in trichiasis. Read More

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December 2018

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Am J Med Genet A 2018 12 10;176(12):2740-2750. Epub 2018 Dec 10.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Read More

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December 2018

[Fraser syndrome: Case report].

J Fr Ophtalmol 2018 Dec 13;41(10):e489-e490. Epub 2018 Nov 13.

Service d'ophtalmologie, CHU Hôpital-Nord, chemin des Bourrely, 13015 Marseille, France.

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December 2018

Socket Reconstruction With Bleomycin, Gentamicin, and Gelatin Sponges Following Eyelid-Sparing Orbital Exenteration for a Colobomatous Macrocyst in an Infant.

Ophthalmic Plast Reconstr Surg 2018 Nov/Dec;34(6):e201-e203

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI, U.S.A.

Microphthalmia is defined by a globe axial length greater than or equal to 2 standard deviations below the age-adjusted mean and can occur as part of a broader syndrome. The presence of a colobomatous cyst with microphthalmia signifies failure of the embryonic neuroectodermal fissure to close appropriately during development of the globe, creating a protuberant globular appendage that inhibits normal growth and development of the eye itself. Cystic reaccumulation of fluid is common after aspiration or surgical removal. Read More

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Delleman syndrome: A case report from West Africa - features and the challenges of management.

Niger Postgrad Med J 2018 Jul-Sep;25(3):191-194

Department of Radiology, University College Hospital, Ibadan, Nigeria.

Delleman syndrome is a rare congenital disorder. We report an 8-month old female with a history of a fleshy mass covering the left eye since birth. Examination revealed poor vision in the left eye, an upper lid coloboma and an epibulbar dermoid with a large area of alopecia and scalp hypoplasia involving the left frontoparietal region. Read More

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A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Hum Mol Genet 2018 07;27(13):2357-2366

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510623, China.

Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have been identified for these syndromes but not in the isolated cases. Here, we described two patients from two unrelated Chinese families: one with unilateral isolated CO, while the other with unilateral CO and renal agenesis. Read More

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Modified everting sutures: an alternative treatment for mild to moderate epiblepharon.

Br J Ophthalmol 2018 11 17;102(11):1510-1514. Epub 2018 Apr 17.

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

Purpose: To describe a modified everting suture procedure which can be used in patients with mild to moderate epiblepharon who are undergoing general anaesthesia for surgical correction of coexisting ophthalmic conditions.

Methods: A prospective, interventional, non-comparative case series on patients with mild to moderate epiblepharon who underwent the modified everting suture procedure using permanent nylon sutures while under general anaesthesia for other ophthalmic surgery, from May 2014 to May 2016, in a single tertiary institution. Main outcome measures were correction of epiblepharon, recurrence rate and complications. Read More

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November 2018

Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.

Biochem Biophys Res Commun 2018 04 21;499(1):78-85. Epub 2018 Mar 21.

Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan. Electronic address:

Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, and atresia of the external auditory canals. TCS3 is caused by mutations of the polr1c gene, which encodes RNA polymerase I and III subunit C (POLR1C). Read More

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Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Am J Med Genet A 2018 02 22;176(2):477-482. Epub 2017 Dec 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Elsahy-Waters syndrome (EWS), also known as branchial-skeletal-genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Read More

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February 2018

A 5-day-old-newborn with a large right upper eyelid coloboma.

Digit J Ophthalmol 2017;23(3):88-91. Epub 2017 Sep 28.

Cleveland Clinic Cole Eye Institute, Cleveland, Ohio.

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