Genomes and Genes
Summary: Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Publications244 found, 100 shown here
- Comparison of silastic and banked fascia lata in pediatric frontalis suspensionDov Hersh
Department of Pediatric Ophthalmology Childrens Hospital at Westmead, Sydney, Australia
J Pediatr Ophthalmol Strabismus 43:212-8. 2006..To compare the use of Silastic and banked fascia lata in pediatric frontalis suspension surgery for functional success, ptosis recurrence, and infection and granuloma rates...
- Modified technique and ptosis clamp for surgical correction of congenital pediatric ptosis by anterior levator resectionKayvan Keyhani
Department of Ophthalmology, The New York Eye and Ear Infirmary, New York, New York, USA
Facial Plast Surg 23:156-61. 2007..The author has utilized this clamp and modified technique in over 350 lid surgeries over the past ten years...
- Frontalis suspension with fascia lata for severe congenital blepharoptosis using enhanced involuntary reflex contraction of the frontalis muscleKiyoshi Matsuo
Department of Plastic and Reconstructive Surgery, Shinshu University School of Medicine and Graduate School of Medicine, 3 1 1 Asahi, Matsumoto, Nagano 390 8621, Japan
J Plast Reconstr Aesthet Surg 62:480-7. 2009..this neurophysiological mechanism during surgery on 50 patients with severe unilateral or bilateral congenital blepharoptosis that does not have the levator muscle but has Mueller's muscle...
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere
Department of Medical Genetics, Ghent University Hospital, B 9000 Ghent, Belgium
Hum Mol Genet 10:1591-600. 2001..Furthermore, we propose that in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect...
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeL Crisponi
Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Universita degli Studi di Cagliari, Cagliari, Italy
Nat Genet 27:159-66. 2001..FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat...
- Isolated unilateral neurogenic blepharoptosis secondary to eyelid traumaTimothy J McCulley
Department of Ophthalmology, University of Cincinnati, and the Cincinnati Eye Institute, Ohio, USA
Am J Ophthalmol 134:626-7. 2002To describe eyelid trauma as a cause of isolated neurogenic blepharoptosis.
- Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian familiesJ L Ramirez-Castro
Unidad de Genética Médica, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia
Am J Med Genet 113:47-51. 2002....
- Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patientsNitin Udar
Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Hum Mutat 22:222-8. 2003..548A>G (H104R); g.652G>T (E139X); and g.1178_1185del8 (A314fsX530). In addition we also identified two known mutations g.823C>T (Q196X) and g.1092_1108dup17, the latter in individuals from three unrelated pedigrees...
- Not only hard contact lens wear but also soft contact lens wear may be associated with blepharoptosisIsabel Bleyen
Department of Ophthalmology, Erasmus MC University Hospital, Rotterdam, The Netherlands
Can J Ophthalmol 46:333-6. 2011..The authors attempt to establish an association between prolonged hard and soft contact lens wear and ptosis...
- Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular musclesAhmad Yazdani
Department of Pediatric Ophthalmology and Strabismus and Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA
Ophthalmology 111:1035-42. 2004....
- Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3Shasha Lu
Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden
Arch Ophthalmol 126:388-94. 2008..To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)...
- Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?Gabriela F Leal
Servico de Genetica Medica, Instituto Materno Infantil Prof Fernando Figueira, Recife PE, Brazil
Am J Med Genet A 146:1059-62. 2008
- Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscleH Dollfus
LGME du CNRS, U 184 INSERM, Faculte de Medecine, Clinique Ophtalmologique and Département de Radiologie, Hopitaux Universitaires de Strasbourg, Strasbourg, France
Clin Genet 63:117-20. 2003..Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle...
- Blepharoptosis: evaluation, techniques, and complicationsSyed M Ahmad
Department of Ophthalmology, St Luke s Roosevelt Hospital Center, New York, New York, USA
Facial Plast Surg 23:203-15. 2007b>Blepharoptosis (ptosis) is one of the most common eyelid disorders encountered in ophthalmology. A detailed history and exam are crucial in the evaluation of a patient presenting with ptosis...
- One medial triangular Tutoplast sling as a frontalis suspension for adult myogenic blepharoptosisNir Seider
Alberto Moscona Department of Ophthalmology, Rambam Medical Centre, Haifa, Israel
Acta Ophthalmol Scand 84:121-3. 2006The treatment of choice for medium to severe blepharoptosis with minimal or no levator function is frontalis suspension with a sling, using a rectangular or rhomboid sling placement technique...
- Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeShengjian Tang
Plastic and Reconstructive Research Institute, Weifang Medical College, Weifang 261042, Shandong Province, Peoples Republic of China
Mutagenesis 21:35-9. 2006..So we speculate that in a fraction of the BPES patients the genetic defect may represent a change in gene dosage or a rearrangement outside the transcription unit of FOXL2...
- Congenital ptosis: Long-term outcome of frontalis suspension using autogenous temporal fascia or fascia lata in childrenC Philandrianos
Service de Chirurgie Plastique Pédiatrique, Department of Pediatric Plastic Surgery, Hôpital Timone Enfants Timone Children s Hospital, 264 rue Saint Pierre, 13385 Marseille Cedex 05, France
J Plast Reconstr Aesthet Surg 63:782-6. 2010Children with severe congenital blepharoptosis are at risk of developing amblyopia. For this reason, ptosis repair is indicated as soon as the diagnosis is made...
- Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeSiu fong June Or
Clinical Genetic Service, Department of Health, Hong Kong SAR, China
Chin Med J (Engl) 119:49-52. 2006
- Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegiaKazutaka Soejima
Department of Plastic Surgery, Tokyo Metropolitan Hiroo General Hospital, Tokyo, Japan
Ann Plast Surg 56:439-42. 2006..disorder characterized by progressive weakness of the extraocular and levator muscles, which causes blepharoptosis and impairment of ocular motility...
- Blepharoptosis surgery complicated by late suture migrationJ A Foster
Department of Ophthalmic Plastic and Reconstructive Surgery, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Am J Ophthalmol 130:116-7. 2000To report late suture migration as a complication of blepharoptosis surgery.
- Mersilene mesh sling as an alternative to autogenous fascia lata in the management of ptosisE El-Toukhy
Department of Ophthalmology, Faculty of Medicine, Cairo University, Egypt
Eye (Lond) 15:178-82. 2001..To evaluate the use of Mersilene mesh as a brow suspensory material and to compare it clinically against autogenous fascia lata...
- Topical naphazoline in the treatment of myasthenic blepharoptosisYuriko Nagane
Department of Neurology, Hanamaki General Hospital, 4 28 Kajoh chou, Hanamaki 025 0075, Japan
Muscle Nerve 44:41-4. 2011..We examined the efficacy of topical naphazoline in the treatment of myasthenic blepharoptosis.
- Frontalis suspension sling using a silicone rod in patients affected by myogenic blepharoptosisFrancesco P Bernardini
Clinica Oculistica, Universita di Genova, Genova, Italy
Orbit 21:195-8. 2002..A silicone rod, because of its elasticity, is the material of choice in this selected category of patients...
- Blepharoptosis in RGP and PMMA hard contact lens wearersJanice H J Thean
Royal Victorian Eye and Ear Hospital, Melbourne, Australia
Clin Exp Optom 87:11-4. 2004Contact lens wear has been documented to cause an acquired non-senile blepharoptosis. This is generally associated with prolonged wearing of hard contact lenses...
- Upgaze eyelid position allows differentiation between congenital and aponeurotic blepharoptosis according to the neurophysiology of eyelid retractionChihiro Hirasawa
Department of Plastic and Reconstructive Surgery, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
Ann Plast Surg 57:529-34. 2006To differentiate between congenital and aponeurotic blepharoptosis, we investigated whether upgaze with stretching of the mechanoreceptor of Mueller muscle increases involuntary reflex contraction of the levator slow-twitch muscle fibers...
- Long-term outcome of strabismus and ptosis surgery in a mother and daughter with congenital fibrosis of extraocular musclesBranislav Stanković
Clinical Center of Serbia, Institute of Ophthalmology, Belgrade, Serbia
Vojnosanit Pregl 63:835-8. 2006..The aim of this report was to describe a severe, atypical, exposure-induced corneal stromal lysis in two patients...
- Surgical desensitisation of the mechanoreceptors in Müller's muscle relieves chronic tension-type headache caused by tonic reflexive contraction of the occipitofrontalis muscle in patients with aponeurotic blepharoptosisKiyoshi Matsuo
Department of Plastic and Reconstructive Surgery, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
J Plast Surg Hand Surg 47:21-9. 2013..In aponeurotic blepharoptosis, since the levator aponeurosis is disinserted from the tarsus, stretching of the mechanoreceptors in Müller's ..
- 'Kite-tail' fascia lata strips technique: frontalis suspension using a non-endoscopic minimally invasive single-thigh incision approachCem Evereklioglu
Department of Ophthalmology, Division of Oculoplastic, Orbital and Lacrimal Surgery, Erciyes University Medical Faculty, Kayseri, Turkey
Br J Ophthalmol 96:570-5. 2012To introduce 'kite-tail' strips or a 'multiple Z-plasty' technique on an autogenous fascia lata graft without a stripper to correct severe blepharoptosis by frontalis suspension and to evaluate its effectiveness on surgical outcome.
- A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelidKenjiro Kosaki
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
Ophthalmic Genet 23:43-7. 2002..We suggest that the polyalanine tract may have a differential role in eyelid and ovarian development and function. Further work is required to clarify whether ovarian function can be predicted on the basis of genotype...
- Open loop fascial sling for severe congenital blepharoptosisZakaria Yahya Arajy
Scientific Council of Plastic Surgery, Iraqi Board for Medical Specializations, Baghdad, Iraq
J Craniomaxillofac Surg 40:129-33. 2012..We describe a simple open loop fascia lata suspension sling to the frontalis muscle to treat patients with severe eyelid ptosis and poor levator function...
- Frontalis suspension technique with a temporal-fasciae-complex sheet for repairing blepharoptosisJ Fan
Mid-2 Division of Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, PR China
Aesthetic Plast Surg 25:147-51. 2001Congenital blepharoptosis presents as a drooping upper eyelid with an unpleasant appearance. Severe blepharoptosis usually has to be treated with varying modifications of frontalis suspension techniques...
- Mini-invasive ptosis surgeryFrancesco P Bernardini
Ospedale Evangelico Internazionale, Genova and Ospedale Evangelico Valdese, Torino, Italy
Orbit 25:111-5. 2006..We believe that, in a selected group of patients, a less invasive approach with an upper lid skin incision of only 0.8 cm is equally effective for the final result and offers several advantages compared to the traditional technique...
- Double-eyelid blepharoplasty incorporating blepharoptosis surgery for 'latent' aponeurotic ptosisJin Li
Department of Ophthalmology, Ninth People s Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, PR China
J Plast Reconstr Aesthet Surg 64:993-9. 2011..Incorporation of the aponeurotic reinsertion and minimal dissection into the blepharoptosis surgery will correct the 'latent' aponeurotic ptosis successfully.
- Blepharoptosis repaired by frontalis-orbicularis oculi flap: a new techniqueKeerapat Bhiromekraibhak
Plastic and Reconstructive Division, Department of Surgery, Faculty of Medicine, Panyananthaphikkhu Chonprathan Medical Center, Srinakharinwirot University, Nonthaburi, Thailand
J Med Assoc Thai 93:S15-20. 2010The treatment of blepharoptosis depends on the degree of ptosis and the function of the levator muscle...
- Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosisJuan Pablo Lopez
Department of Ophthalmology, Clinica Alemana de Santiago and Universidad Del Desarrollo, Santiago, Chile
J AAPOS 13:413-4. 2009..We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.
- Paediatric blepharoptosis: a 10-year reviewA Berry-Brincat
Eye Department Birmingham Children s Hospital, Birmingham, UK
Eye (Lond) 23:1554-9. 2009To examine the characteristics of blepharoptosis and the success of surgical intervention in a large group of children presenting to a specialist at paediatric ophthalmology center.
- Diplopia, blepharoptosis, and ophthalmoplegia and 3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitor useF W Fraunfelder
Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon 97239 4197, USA
Ophthalmology 115:2282-5. 2008To report the association between 3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) reductase inhibitors (statins) and diplopia, blepharoptosis (ptosis), and ophthalmoplegia.
- Prediction of postoperative eyelid height after frontalis suspension using autogenous fascia lata for pediatric congenital ptosisChang Yeom Kim
The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea
Am J Ophthalmol 153:334-342.e2. 2012..To predict eyelid height after frontalis suspension using autogenous fascia lata for congenital ptosis...
- [Bilateral primary pseudotumoral palpebral amyloidosis. A case report]M Lezrek
Service d Ophtalmologie A, Hopital des specialites, Rabat, Morocco
J Fr Ophtalmol 30:e17. 2007..Clinical progression showed improvement of the ptosis and the patient's comfort. Although rare, palpebral amyloidosis poses management problems, particularly in advanced cases, because of corneal complications and recurrence...
- Efficacy and efficiency of a new involutional ptosis correction procedure compared to a traditional aponeurotic approachBartley R Frueh
Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA
Trans Am Ophthalmol Soc 102:199-206; discussion 206-7. 2004..This was a retrospective study to compare the efficacy and efficiency of a new small anterior incision, minimal dissection ptosis procedure with that of a traditional anterior aponeurotic approach for the correction of aponeurotic ptosis...
- Primary bilateral silicone frontalis suspension for good levator function ptosis in oculopharyngeal muscular dystrophyRichard C Allen
Department of Surgery, Division of Ophthalmology, University of New Mexico School of Medicine, Albuquerque, New Mexico USA
Br J Ophthalmol 96:841-5. 2012..To evaluate outcomes of patients with oculopharyngeal muscular dystrophy (OPMD) with levator function (LF) ≥ 10mm who underwent primary bilateral silicone frontalis suspension...
- Correction of congenital severe ptosis by suspension of a frontal muscle flap overlapped with an inferiorly based orbital septum flapY Pan
Department of Plastic Surgery, Xijing Hospital, Xi an, People s Republic of China
Aesthetic Plast Surg 32:604-12; discussion 613. 2008..This report introduces a new method for correction of congenital severe upper eyelid ptosis...
- Ptosis repair options and algorithmAltug Cetinkaya
Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA
Curr Opin Ophthalmol 19:428-34. 2008..Each patient needs to be individually assessed and treated. A surgeon needs to be familiar with all types of surgical repair to choose the best possible option for his/her particular patient...
- Blepharoptosis and external ophthalmoplegia associated with long-term antiretroviral therapyWarren L Dinges
Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390 9103, USA
Clin Infect Dis 47:845-52. 2008..b>Blepharoptosis, without prior ART association, is usually caused by age-associated involutional ptosis, but it is also seen ..
- Frontalis slings with palmaris tendon as an adjuvant treatment for myasthenic blepharoptosis: a case reportChien Chih Yu
Division of Plastic Surgery, Department of Surgery, Tri Service General Hospital, National Defense Medical Center, Taipei, Taiwan
Ann Plast Surg 58:577-9. 2007..The surgical result has been stable for more than 2 years. For patients who have failed to respond to medical therapy for MG, frontalis sling procedure is an appropriate adjuvant treatment option...
- Aesthetic blepharoptosis correction with release of fibrous web bands between the levator aponeurosis and orbital fatJoo Hyoung Kim
Department of Plastic and Reconstructive Surgery, Ajou University Hospital, Suwon, Korea
J Craniofac Surg 23:e52-5. 2012..To correct these features, an accurate understanding of upper eyelid anatomy is essential, especially concerning the levator aponeurosis, orbital fat, and orbital septum...
- Aetiology and surgical treatment of childhood blepharoptosisV Lee
Oculoplastic Service, Moorfields Eye Hospital, London, UK
Br J Ophthalmol 86:1282-6. 2002..To describe the aetiology, demography, surgical management, and outcome of a cohort of paediatric ptosis patients in a large tertiary referral oculoplastic centre...
- Periocular and orbital amyloidosis: clinical characteristics, management, and outcomeIgal Leibovitch
Oculoplastic and Orbital Division, Department of Ophthalmology and Visual Sciences, Royal Adelaide Hospital, University of Adelaide, Adelaide, Australia
Ophthalmology 113:1657-64. 2006..To present the clinical features and management outcome in a large series of patients with periocular and orbital amyloidosis...
- Ptosis from localized A-lambda-amyloid deposits in the levator palpebrae muscleStefan Dithmar
Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany
Ophthalmology 111:1043-7. 2004..To describe a patient with unilateral ptosis caused by localized amyloid deposits of immunoglobulin lambda-light chains (A-lambda-amyloid) in the levator palpebrae muscle...
- Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12E C Engle
Department of Neurology, Howard Hughes Medical Institute, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115
Nat Genet 7:69-73. 1994..9 (theta = 0.03) and 5.4 (theta = 0.03) respectively, defining a region of 8 cM. These data establish a map location for CFEOM and demonstrate that this may be a genetically homogeneous disorder...
- A simplified technique of ptosis repair using a single adjustable sutureM A Meltzer
Department of Ophthalmology, Mount Sinai School of Medicine, New York, New York, USA
Ophthalmology 108:1889-92. 2001..It is also useful when the "ideal" lid level may not be determined until the postoperative period, such as eyes subject to ptosis by Hering's law, levator dehiscence, or those at increased potential risk for corneal exposure...
- Advances in the diagnosis and treatment of ptosisMichael Baroody
Danbury Hospital, Danbury, Connecticut, USA
Curr Opin Ophthalmol 16:351-5. 2005The surgical correction of blepharoptosis, both congenital and acquired, has been intensively examined and reported on for many years...
- Frontalis muscle advancement: a dynamic structure for the treatment of severe congenital eyelid ptosisOscar M Ramirez
Johns Hopkins University and University of Maryland School of Medicine, Baltimore, MD, USA
Plast Reconstr Surg 113:1841-9; discussion 1850-1. 2004..Symmetry is created by intervention on the contralateral eyelid to provide symmetrical supratarsal creases...
- FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patientsSiv Fokstuen
Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
Am J Med Genet A 117:143-6. 2003..As a consequence, FOXL2 mutation testing in female patients of child-bearing age with BPES should be handled with caution, and a two-step genetic counseling approach, including an initial pre-test information session, is proposed...
- Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. A report of 14 casesKathryn M B McCreery
Department of Ophthalmology, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
Binocul Vis Strabismus Q 17:181-6. 2002..The purpose of this study is to evaluate the clinical spectrum of this condition in children and to identify factors that may aid the clinician in its diagnosis and management...
- Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2AThomas M Bosley
Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Brain 129:2363-74. 2006..Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes...
- Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21AJoseph L Demer
Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095 7002, USA
Invest Ophthalmol Vis Sci 46:530-9. 2005....
- Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian PeninsulaArif O Khan
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, KSA
Ophthalmic Genet 29:25-8. 2008..To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital fibrosis of the extraocular muscles type I (CFEOM1)...
- Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13S M Wang
Division of Genetics, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 63:517-25. 1998..We hypothesize that CFEOM2 results from an analogous developmental defect to CFEOM1, one that affects both the superior and inferior divisions of the oculomotor nerve and their corresponding alpha motoneurons and extraocular muscles...
- Blepharoptosis in Ibadan, NigeriaA M Baiyeroju
Department of Ophthalmology, University College Hospital, Ibadan, Nigeria
West Afr J Med 22:208-10. 2003To look into the cases of blepharoptosis in our environment as well as find out the causes and effects of the ptosis.
- KIF21A variant R954W in familial or sporadic cases of CFEOM1Guenther Rudolph
Augenklinik der Ludwig Maximilians Universitat, München Germany
Eur J Ophthalmol 19:667-74. 2009..To demonstrate the clinical characteristics and determine mutations in the KIF21A gene, encoding a kinesin motor protein in patients with congenital fibrosis of the extraocular muscles (CFEOM) type 1...
- Ptosis: causes, presentation, and managementJosef Finsterer
Aesthetic Plast Surg 27:193-204. 2003..Although improvement of the lid height is usually achieved, the eyelids may not appear perfectly symmetrical. In rare cases, full eyelid movement does not return. In some cases, more than one operation is required...
- EMG myokymia as a cause of ptosis in hypothyroidismY L Lo
Department of Neurology, Singapore General Hospital, Singapore
Eur J Neurol 10:87-90. 2003..In the absence of obvious aetiology, it is hypothesised that focal demyelination of terminal branches to the orbicularis oculi may play a role in the generation of the discharges...
- Long-term results of frontalis suspension using autogenous fascia lata for congenital ptosis in children under 3 years of ageIgal Leibovitch
Department of Ophthalmology, Tel Aviv Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Am J Ophthalmol 136:866-71. 2003..To evaluate the outcome of frontalis suspension surgery for congenital ptosis using autogenous fascia lata for children under 3 years of age...
- Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C)Arun Kumar
Department of Molecular Reproduction, Development, and Genetics, Indian Institute of Science, Bangalore, India
Mol Vis 10:445-9. 2004..The purpose of the present study was to carry out genetic analysis of BPES in a five-generation Indian family...
- Blepharoptosis correction with frontalis suspension using a supramid sling: duration of effectD Liu
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Am J Ophthalmol 128:772-3. 1999..To investigate the duration of effect after frontalis suspension with a Supramid (S. Jackson, Inc, Alexandria, Virginia) sling...
- Small incision transcutaneous levator aponeurotic repair for blepharoptosisMichael Baroody
Division of Plastic Surgery, Pennsylvania State College of Medicine, Milton S Hershey Medical Center, Hershey, PA, USA
Ann Plast Surg 52:558-61. 2004Patients presenting with blepharoptosis due to disinsertion or thinning of the levator aponeurosis require surgical repair...
- Intraoperative quantification using finger force for involutional blepharoptosis without postoperative lagophthalmosHirohiko Kakizaki
Department of Ophthalmology, Aichi Medical University, Aichi, Japan
Jpn J Ophthalmol 50:135-40. 2006To report intraoperative quantification using finger force for involutional blepharoptosis, which helps in the prevention of postoperative lagophthalmos.
- A guide to making a natural eyelid margin curvature in blepharoptosis surgeryHirohiko Kakizaki
Acta Ophthalmol Scand 82:240-1. 2004
- CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3E J Doherty
Department of Ophthalmology, Atlantic Health Sciences Corporation, Saint John, New Brunswick, Canada
Invest Ophthalmol Vis Sci 40:1687-94. 1999..To define the clinical characteristics and determine the gene localization for a previously undescribed form of congenital fibrosis of the extraocular muscles (CFEOM), referred to as CFEOM type 3 (CFEOM3)...
- Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian familyC P Venkatesh
Minto Eye Hospital, Bangalore, India
Mol Vis 8:294-7. 2002..To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family...
- Histopathology of blepharoptosis induced by prolonged hard contact lens wearAkihide Watanabe
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Japan
Am J Ophthalmol 141:1092-1096. 2006To clarify histopathologically the structural features of blepharoptosis in prolonged hard contact lens wearers.
- Long-term results of autogenous palmaris longus frontalis sling in children with congenital ptosisC Y Wong
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, People s Republic of China
Eye (Lond) 19:546-8. 2005..To investigate the long-term outcome of using autogenous palmaris longus tendon (PLT) sling for correcting congenital ptosis in children...
- Comparison of materials used in frontalis suspensionB N Wasserman
Princeton Eye Laser Center, NJ 08540, USA. hhtp://www.princetonlaser.com
Arch Ophthalmol 119:687-91. 2001..Other materials are useful for temporary eyelid elevation. All materials carry the risk of potential infection and/or granuloma formation...
- Outcomes of anterior levator resection in congenital blepharoptosisC A Cates
Department of Ophthalmology, Salisbury District Hospital, Wiltshire, UK
Eye 15:770-3. 2001PURPOSE: To identify any consistent factors which may predict over- or undercorrection of congenital blepharoptosis treated by anterior levator resection...
- Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case reportKotaro Oe
Division of Internal Medicine, Houjukinen Hospital, Nomi, Japan
Circ J 71:1485-7. 2007..to these cardiovascular abnormalities, she had Wildervanck syndrome (Klippel-Feil syndrome, Duane syndrome and sensorineural hearing disturbance), blepharoptosis and short stature. This rare combination has not been reported previously.
- Restoration of involuntary tonic contraction of the levator muscle in patients with aponeurotic blepharoptosis or Horner syndrome by aponeurotic advancement using the orbital septumKiyoshi Matsuo
Department of Plastic and Reconstructive Surgery, Shinshu University School of Medicine, Matsumoto, Japan
Scand J Plast Reconstr Surg Hand Surg 37:81-9. 2003..from the tarsus by habitual rubbing, elongation of Müller's muscle secondary to thinning (aponeurotic blepharoptosis) or paralysis (Horner syndrome) desensitises the mechanoreceptor of Müller's muscle, resulting in ..
- Surgical correction of blepharoptosis using the levator aponeurosis-Müller's muscle complex readaptation technique: a 15-year experienceNicolo Scuderi
Department of Plastic and Reconstructive Surgery, University of Rome La Sapienza, Italy
Plast Reconstr Surg 121:71-8. 2008..It may be caused by various abnormalities, both congenital and acquired. The aim of this article is to report the long-term follow-up of results obtained with the levator aponeurosis-Müller's muscle complex readaptation technique...
- Paradoxical use of frontalis muscle and the possible role of botulinum a toxin in permanent motor relearningGuy J Ben Simon
Jules Stein Eye Institute and Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Ophthalmology 112:918-22. 2005..Successful treatment with botulinum A toxin facilitated motor relearning and cessation of muscle contraction...
- Insertion of frontalis muscle relating to blepharoptosis repairKun Hwang
Department of Plastic Surgery, College of Medicine, Inha University, Incheon, Korea
J Craniofac Surg 16:965-7. 2005..aim of the study is to elucidate the precise anatomy and histologic structure of frontalis muscle relating to blepharoptosis repair. Five Korean adult cadavers were used...
- Isolated Muller's muscle resection for the correction of blepharoptosisR Khooshabeh
Department of Opthalmology, Buckinghamshire Hospitals NHS Trust, Buckinghamshire, UK
Eye (Lond) 22:267-72. 2008To assess the outcome of isolated Muller's muscle resection with preservation of conjunctiva in patients with blepharoptosis and good to moderate levator function.
- Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2R Bell
The Medical Genetics Unit, St George s Hospital Medical School, Tooting, London SW17 ORE, UK
Genet Test 5:335-8. 2001....
- The molecular basis of the congenital fibrosis syndromesElizabeth C Engle
Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
Strabismus 10:125-8. 2002....
- Regional nerve block of the upper eyelid in oculoplastic surgeryA R Ismail
Portsmouth Eye Unit, Queen Alexandra Hospital, Cosham, Portsmouth, UK
Eur J Ophthalmol 16:509-13. 2006..To establish the efficacy of a regional nerve block of the upper eyelid and its effect on levator motor function...
- Revisiting upper eyelid anatomy: introduction of the septal extensionRussell R Reid
Division of Plastic Surgery, Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Plast Reconstr Surg 117:65-6; discussion 71-2. 2006..In addition, this study may help to explain the increased rate of recurrence in ptosis repairs that incorporate plication techniques...
- Results of levator excision followed by fascia lata brow suspension in patients with congenital and jaw-winking ptosisCarolyn A Cates
Department of Ophthalmology, West Suffolk Hospital, Bury St Edmunds, Suffolk, UK
Orbit 27:83-9. 2008..The purpose of the study was to examine the results of frontalis brow suspension after levator excision in patients with ptosis, and to determine whether satisfactory cosmetic results can be achieved with this procedure...
- Correcting aponeurotic ptosisDavid R Jordan
Ophthalmology 113:163-4; author reply 164. 2006
- Re: "a randomized clinical trial of two methods of fascia lata suspension in congenital ptosis"Mohsen Bahmani Kashkouli
Ophthal Plast Reconstr Surg 24:244; author reply 244-5. 2008
- [Analysis of treatment results 389 patients with congenital blepharoptosis]Kazimierz Kobus
Kliniki Chirurgii Plastycznej Akademii Medycznej we Wrocławiu
Klin Oczna 110:159-65. 2008Retrospective analysis of the results in the treatment of congenital blepharoptosis.
- Transient descent of the contralateral eyelid in unilateral ptosis surgeryEdward J Wladis
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Ophthal Plast Reconstr Surg 24:348-51. 2008..To report novel findings regarding contralateral eyelid height (i.e., intraoperative descent, followed by postoperative elevation) during unilateral ptosis surgery and to comment on their relevance in surgical planning...
- Safety and efficacy of silicone rod frontalis suspension surgery for childhood ptosis repairCarrie L Morris
Duke University Eye Center, Durham, NC 27710, USA
J Pediatr Ophthalmol Strabismus 45:280-8; quiz 289-90. 2008..To evaluate the safety and efficacy of silicone rod frontalis suspension surgery for childhood ptosis...
- Re: "Horizontal eyelid movement on eyelid closure"Naser Owji
Ophthal Plast Reconstr Surg 21:474; author reply 474-5. 2005
- Stability of silicone band frontalis suspension for the treatment of severe unilateral upper eyelid ptosis in infantsP Fogagnolo
G B Bietti Foundation IRCCS Istituto di Ricovero e Cura a Carattere Scientifico, Roma Italy
Eur J Ophthalmol 18:723-7. 2008..To address the efficacy, safety, and stability of frontalis suspension of the upper eyelid with a silicone band for the treatment of severe congenital ptosis in infants...
- Frontalis suspension for upper eyelid ptosis: evaluation of different surgical designs and suture materialGuy J Ben Simon
Division of Orbital and Ophthalmic Plastic Surgery, Jules Stein Eye Institute, CA 90095 7006, USA
Am J Ophthalmol 140:877-85. 2005..To compare two sling designs (single loop or double pentagon) and a variety of suture material that was used in frontalis suspension surgery for correction of upper eyelid ptosis...
- External levator advancement vs Müller's muscle-conjunctival resection for correction of upper eyelid involutional ptosisGuy J Ben Simon
Jules Stein Eye Institute and Department of Ophthalmology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
Am J Ophthalmol 140:426-32. 2005..To compare external levator advancement and Müller's muscle-conjunctival resection (conjunctivomullerectomy, or CJM) for correction of upper eyelid involutional ptosis...
- Re: "Effect of unilateral blepharoptosis on contralateral eyelid position"Allen M Putterman
Ophthal Plast Reconstr Surg 21:323; author reply 324. 2005
- Modified tarsal resection operation for congenital ptosis with fair levator functionSarit M Patel
Department of Ophthalmology, West Virginia University Eye Institute, West Virginia University, Morgantown, West Virginia, USA
Ophthal Plast Reconstr Surg 24:1-6. 2008..The authors review their 10-year experience with an en bloc resection of tarsus, Müller muscle, and conjunctiva in conjunction with graded levator aponeurosis advancement (a variation of the tarsectomy operation)...
- Predictability of conjunctival-Müellerectomy for blepharoptosis repairEva Ayala
Hospital San Juan de Dios, Santa Cruz, Tenerife, Spain
Orbit 26:217-21. 2007To assess the predictability of the algorithm used to determine the amount of tissue resection for conjunctival-Müellerectomy during blepharoptosis repair.
- Approaches for correcting aponeurotic ptosisKostas G Boboridis
Ophthalmology 113:1889-90; author reply 1890-1. 2006
- The search for an ideal surgical procedure for pediatric congenital ptosis with poor to absent levator muscle function continuesRudolph S Wagner
J Pediatr Ophthalmol Strabismus 43:206. 2006
- Tarsal switch levator resection for the treatment of blepharoptosis in patients with poor eye protective mechanismsSheri L Demartelaere
Texas Oculoplastic Consultants, Austin, Texas 78705, USA
Ophthalmology 113:2357-63. 2006..The authors report the use of a tarsal switch levator resection procedure that opens the palpebral fissure while reducing the risk of postoperative exposure in ptosis patients with poor eye protective mechanisms...
- Pathogenesis of a Novel Limb-Girdle Muscular DystrophyMichio Hirano; Fiscal Year: 2003..For the patients, achieving the proposed goals will allow more accurate prenatal diagnosis, genetic counseling, and perhaps contribute to more rational therapies in the future. ..
- Prednisone Ocular Myasthenia Gravis Trial Planning GrantMark Kupersmith; Fiscal Year: 2004....
- GENETICS OF PARKINSON DISEASE IN THE AMISHBrad Racette; Fiscal Year: 2006..abstract_text> ..
- Epidemilogy of Parkinsonism in WeldersBrad A Racette; Fiscal Year: 2011..The cohort assembled will provide unique opportunities for future research projects into gene-environment interactions and exposure related neuroimaging changes. ..