Abstract:
:Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and facial characteristics. Here, the authors present the first case, to the best of the authors' knowledge, of bilateral lacrimal puncta agenesis in a patient with KS.#8232;The proband patient was a 29-year-old woman diagnosed with this syndrome, brought to our office due to recurrent conjunctivitis where agenesia of lacrimal puncta was observed. Therapeutic options were exposed but, as the concomitant medication (topiramate) produced ocular dryness, conservative treatment was decided. Diagnosis of KS is challenging because it is a complex syndrome with many associated findings. The authors recommend taking into account the agenesis of lacrimal points in the differential diagnosis of KS if it is associated with other phenotypic alterations as well as including lacrimal examination in patients with KS diagnosis. The authors emphasize the importance of individualizing treatment since drugs used for the systematic management of these patients can influence tear symptoms.
journal_name
Ophthalmic Plast Reconstr Surgjournal_title
Ophthalmic plastic and reconstructive surgeryauthors
Diez MTS,Lemaitre S,Gonzalez-Valdivia H,Gonzalez-Candial MGdoi
10.1097/IOP.0000000000001535subject
Has Abstractpub_date
2020-03-01 00:00:00pages
e30-e32issue
2eissn
0740-9303issn
1537-2677pii
00002341-202003000-00027journal_volume
36pub_type
杂志文章abstract:PURPOSE:To investigate the effectiveness of anterior canthal tendon release in the management of centurion syndrome. METHODS:Four patients diagnosed as having the centurion syndrome were treated over a period of 3 years. They all underwent bilateral anterior canthal tendon release under local anesthesia. RESULTS:None...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/01.IOP.0000096160.82046.99
更新日期:2003-11-01 00:00:00
abstract:PURPOSE:To describe the clinical and radiologic features and management of an intraorbital arteriovenous fistula secondary to penetrating injury. METHOD:Interventional case report and literature review. RESULTS:We describe a 13-year-old girl with a history of penetrating orbital injury who presented with proptosis, e...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e3180686e7e
更新日期:2007-07-01 00:00:00
abstract:PURPOSE:To present a structured tool to assess ophthalmic plastic surgical skill and to determine its face and content validity. METHODS:A 1-page structured subjective evaluation form was developed to evaluate a resident's oculoplastic surgical skill while performing lateral tarsal strip surgery. The tool consisted of...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e31815ebb14
更新日期:2008-01-01 00:00:00
abstract:PURPOSE:To describe a patient with Tessier cleft number 5 and 9 and review the literature on the ocular impairment and management of this extremely rare anomaly. METHODS:Interventional case report and literature review. RESULTS:The literature review showed that the present patient is the second case with clefts 5/9. ...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e3181d9293a
更新日期:2010-11-01 00:00:00
abstract:PURPOSE:To present the results of a high-volume oculoplastic surgical outreach in a remote region of Simbu Province in the Eastern Highlands of Papua New Guinea. The authors describe the clinical features and evaluation and treatment of a novel ptosis syndrome found in this area. DESIGN:A team of 4 international ophth...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000818
更新日期:2017-03-01 00:00:00
abstract::A 32-year-old female with Kindler syndrome presented with a 5-year history of lower eyelid malposition, corneal exposure, and recurrent erosions. Severe anterior lamellar cicatricial changes were noted bilaterally, with bilateral lower eyelid ectropion and retraction. Tarsal eversion was noted on the left lower eyelid...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e3181c4dff6
更新日期:2010-09-01 00:00:00
abstract:PURPOSE:To evaluate the relationship between time to surgical intervention and extraocular motility outcomes in children following repair of an orbital floor fracture with inferior rectus entrapment. METHODS:After institution review board's approval, a retrospective, consecutive case series of 28 children with unilate...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000993
更新日期:2018-07-01 00:00:00
abstract::A 56-year-old black woman presented with bilateral orbital swelling in the lacrimal gland region 4 months after initiation of interferon-alpha and ribavirin treatment for occupationally-acquired hepatitis C infection. Histopathologic evaluation of bilateral lacrimal gland biopsy specimens revealed granulomatous inflam...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e31817d81c7
更新日期:2008-07-01 00:00:00
abstract::The authors describe a 9-year-old female who presented with swelling, proptosis, and tenderness of the right upper eyelid and MRI imaging demonstrating right lacrimal gland enlargement. After failing treatment with corticosteroids, the patient underwent a biopsy that was consistent with IgG4-related orbital disease. S...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000959
更新日期:2018-01-01 00:00:00
abstract:PURPOSE:To determine by a survey of ophthalmic plastic surgeons with specific expertise in blepharoplasty surgery the perceived role of Schirmer testing and other evaluation features in determining patient predisposition to postoperative dry-eye complaints. METHODS:A literature review of tear production tests was perf...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章,评审
doi:10.1097/IOP.0b013e3181a1d4a5
更新日期:2009-05-01 00:00:00
abstract:PURPOSE:To report the association of extraocular motility restriction and/or eyelid retraction after orbital fracture repair using titanium. METHODS:Retrospective review of 10 consecutive patients who presented with diplopia and/or cicatricial eyelid retraction following the use of titanium implants for orbital fractu...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e3181929b6e
更新日期:2009-01-01 00:00:00
abstract::The pathophysiologic mechanisms responsible for the clinical features of the anophthalmic socket are poorly understood. Atrophy of orbital fat has been thought to be a major contributing cause of enophthalmos and the superior sulcus deformities that develop after enucleation, but it has never been demonstrated histopa...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/00002341-199006000-00002
更新日期:1990-01-01 00:00:00
abstract::A distended or infiltrated nasolacrimal sac can present as a mass in the medial orbit. We present a case of aspergillus sinusitis complicated by intractable epistaxis after debridement of the nasal septum, which caused pain and rapid distension of the nasolacrimal sac. The clinical and radiographic appearance of the d...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/01.iop.0000115600.88434.72
更新日期:2004-03-01 00:00:00
abstract:PURPOSE:Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) is a rare entity with ophthalmic manifestations in 11% of patients. Orbital and eyelid involvement as the presenting features is even more unusual. METHODS:The authors report the clinical findings of a 41-year-old man with Rosai-Dorfman d...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::There are many reviews of pediatric orbital tumors in the literature. Most of the series originated from the tumor registries of large pathology referral centers, whereas others are from large medical institutions and pediatric hospitals. The distribution of types of tumors reported in each series are unavoidably bias...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/00002341-198903000-00002
更新日期:1989-01-01 00:00:00
abstract:PURPOSE:To describe a novel surgical technique for lower eyelid ectropion repair that avoids canthotomy and cantholysis and can be used in combination with external levator repair and/or in combination with blepharoplasty. METHODS:A retrospective analysis of lower eyelid procedures with the use of the canthus-sparing ...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/00002341-200105000-00003
更新日期:2001-05-01 00:00:00
abstract:PURPOSE:To determine the correlation between lacrimal scintigraphy and a modified Jones primary dye drainage test combined with the fluorescein dye disappearance test (DDT) and Jones secondary dye test, in diagnosing the cause of epiphora. METHODS:A prospective, consecutive clinical trial was conducted. All patients p...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 临床试验,杂志文章
doi:10.1097/IOP.0b013e3181c8ab70
更新日期:2011-03-01 00:00:00
abstract::A 15-month-old boy with left congenital proptosis presented to the emergency department with melena. Upper GI endoscopy and magnetic resonance angiography revealed vascular lesions, consistent with gastrointestinal tract manifestations of blue rubber bleb nevus syndrome. MRI revealed vascular malformations in both orb...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000692
更新日期:2017-05-01 00:00:00
abstract::A total of 145 patients with orbital dermoid cysts examined at the Orbital Clinic, Institute of Ophthalmology, School of Medicine, University of Naples "Federico II" over a period of 16 years were reviewed. The orbital cysts were classified as exophytic and endophytic, according to their site of attachment in relation...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/00002341-199509000-00005
更新日期:1995-09-01 00:00:00
abstract:PURPOSE:To determine incidence and distribution of conjunctival epithelial involvement by eyelid sebaceous carcinoma and to make recommendations regarding its management. METHODS:The medical records were reviewed retrospectively on patients with histopathologically confirmed sebaceous carcinoma of the eyelids managed ...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type:
doi:10.1097/01.iop.0000152494.47038.0e
更新日期:2005-03-01 00:00:00
abstract:PURPOSE:To describe four patients with an enlarging orbital mass from a swollen MIRAgel scleral buckle that simulated an orbital neoplasm. METHODS:In a retrospective, single-center case series at the Ocular Oncology Service at Wills Eye Hospital of Thomas Jefferson University, 4 eyes of 4 patients were referred for ev...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/01.iop.0000148409.31127.f5
更新日期:2005-01-01 00:00:00
abstract::To describe eyelid changes in ocular leprosy, 74 patients (148 eyes or 296 eyelids) were examined, focusing on eyelid abnormalities. The adnexal examination included evaluation of the upper eyelid crease pattern, qualitative assessment of the orbicularis oculi muscle function, measurement of the distance between the c...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/00002341-199807000-00003
更新日期:1998-07-01 00:00:00
abstract::Pilomatrix carcinoma is an uncommon malignant neoplasm originating from the hair follicle matrix. It occurs more frequently in head and neck region and rarely on the eyelid and eyebrow. It is often clinically misdiagnosed. The diagnosis is confirmed by excision biopsy and histopathological examination. A 68-year-old w...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000021
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:To compare the rate of fibrovascularization of wrapped versus unwrapped hydroxyapatite (HA) spheres in an animal model and to investigate how drilling small-diameter access holes at the time of implantation affects the rate of fibrovascular ingrowth in wrapped implants. METHODS:The right eyes of 20 New Zealand...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/00002341-200207000-00008
更新日期:2002-07-01 00:00:00
abstract:PURPOSE:Identify a reproducible measure of axial globe position (AGP) for multicenter studies on patients with thyroid eye disease (TED). METHODS:This is a prospective, international, multicenter, observational study in which 3 types of AGP evaluation were examined: radiologic, clinical, and photographic. In this stud...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章,多中心研究
doi:10.1097/IOP.0000000000000437
更新日期:2016-03-01 00:00:00
abstract:INTRODUCTION:Many reports have suggested that upper eyelid position and brow height can be interdependent; however, the relation is not universally observed. This study aims to understand the prevalence of this phenomenon and examine the utility of phenylephrine testing in predicting brow height change after surgery. ...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000458
更新日期:2016-05-01 00:00:00
abstract:PURPOSE:To assess for alterations in the microscopic anatomy that occur as a result of the Müller muscle-conjunctival resection (MMCR) ptosis procedure and to better understand the mechanisms by which MMCR elevates the eyelid. METHODS:Sixteen orbits from 8 fresh frozen Caucasian cadaver heads, ranging from 38 to 100 y...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e3181cb79a2
更新日期:2010-09-01 00:00:00
abstract:PURPOSE:Canalicular stenosis is a frequent cause of epiphora. Patients with canalicular stenosis often require timely insertion of bicanalicular silicone stents to prevent permanent and complete closure of the canaliculi. This study reports the use of balloon canaliculoplasty in conjunction with silicone tube intubatio...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0b013e3181eea303
更新日期:2010-11-01 00:00:00
abstract::The authors describe a spindle cell lipoma that occurred in the anterior lamellae of the eyelid in a 47-year-old man. This benign tumor was reported previously only once within that location and poses histologic challenges when a "low fat" or "fat free" variant is present. ...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章
doi:10.1097/IOP.0000000000000492
更新日期:2017-05-01 00:00:00
abstract:PURPOSE:To compare the results of 2 methods of upper eyelid sling placement with autogenous fascia lata in the treatment of congenital ptosis. METHODS:In a randomized clinical trial, patients with congenital upper eyelid ptosis and poor levator function (<4 mm) were randomly assigned to either of 2 methods of upper ey...
journal_title:Ophthalmic plastic and reconstructive surgery
pub_type: 杂志文章,随机对照试验
doi:10.1097/IOP.0b013e3180557479
更新日期:2007-05-01 00:00:00