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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report describes an unusual case of a neonate with giant congenital melanocytic nevi covering more than 80% of the body surface area, with cutis verticis gyrata and abnormal lacrimal glandular tissue rests in the epibulbar area. The patient's mother had pigmented lesions in the periorbital region and sclera.
J Pediatr Ophthalmol Strabismus 2010 May 21
PMID:Ectopic lacrimal glandular tissue in a neonate with giant congenital melanocytic nevi and cutis verticis gyrata. 2104 52

A 3-year-old girl was diagnosed as having linear nevus sebaceous syndrome. The nevus sebaceous was located on the left side of the face and neck. An unusually large lacrimal gland was completely ectopic below the entire left conjunctiva, with secondary ectropion of the left upper eyelid. The patient had the unusual finding of dentigerous cysts in both maxillary sinuses. Computed tomography scan showed atrophy of the left cerebral hemisphere, accompanied by a history of seizures; furthermore, the patient was mentally retarded. This phenotypic pattern of linear nevus sebaceous syndrome is typical for patients with multiple associated abnormalities.
J Pediatr Ophthalmol Strabismus 2010 May 21
PMID:Linear nevus sebaceous syndrome in a patient with atypical associated abnormalities. 2121 57

Congenital absence or hypoplasia of some or all major salivary or lacrimal glands, nasolacrimal ducts, and puncta is a rare autosomal dominant disorder. Phenotypical expression may show great variability, and the diagnosis may be difficult. Only a few cases have been reported in the literature. This report describes a patient who has all of the essential features suggestive of aplasia of the lacrimal and salivary glands, as well as retardation of growth and development. Although the characteristic features of aplasia of the lacrimal and salivary glands have been described, an association with development and growth retardation has not been reported in the literature.
J Pediatr Ophthalmol Strabismus 2010 May 21
PMID:Congenital absence of salivary and lacrimal glands accompanied by growth and development retardation. 2121 58

From May 1988, an endoscopically controlled endonasal orbital decompression was performed in 17 patients with malignant ophthalmopathy. Indications were exclusively acute loss of visual acuity or visual field defects, when medical and radiation therapy had failed. The new minimal invasive technique proceeds in three steps. First, an endonasal, endoscopically controlled ethmoidectomy with resection of the middle turbinate is done and the medial wall of the maxillary sinus is widely opened. Second, the medial and inferior orbital walls are removed, preserving the infraorbital nerve. In the last step, the periorbita is incised and the orbital fat herniates. The advantages of this procedure consist of the absence of exterior scars, the avoidance of lacrimal duct stenosis and bony defects in the maxilla and the prevention of the known morbidity of a Caldwell-Luc antrotomy with hypesthesia, dysesthesia and oro-antral fistula. The results were documented by computerized tomographic scans (CT), magnetic resonance imaging (MRI), Hertel measurements, evaluation of ocular motility and ophthalmoscopy. All patients had a postoperative improvement of visual acuity. An average of 3-4 mm improvement in Hertel measurements was reached. Four patients who had a diplopia before the interventions developed a more significant diplopia postoperatively, whereas in all other patients ocular motility either improved (five patients) or remained the same. In conclusion, the endoscopically controlled endonasal procedure enables greater preservation of normal structures and provides results comparable with the common extranasal and transantral procedures without the disadvantages of the latter.
Strabismus 1993
PMID:Endoscopically controlled surgical decompression of the orbit in malignant ophthalmopathy. 2131 60

Strabismus surgery can lead to successful eye alignment but may cause scarring and distortion of conjunctiva and adjacent structures in some cases. We report two patients who developed epiphora when the lacrimal caruncles became distorted after strabismus surgery. Both cases followed successful medial rectus muscle resections for exotropia. A simple excision of the caruncles improved the epiphora and produced a satisfactory appearance.
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PMID:Surgical correction of caruncular distortion after medial rectus resection. 2190 28

Corneal abrasions are a known complication of lacrimal intubation. The authors describe two consecutive patients in which this occurred using the JEDMED (St. Louis, MO) mono-canalicular tube, and propose a mechanism, based on the flange design, as an explanation.
J Pediatr Ophthalmol Strabismus 2011 Oct 11
PMID:Corneal abrasions associated with Crawford mono-canalicular tubes. 2198 31

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes.
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PMID:Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. 2472 73

A new technique to obtain patency of the lacrimal drainage system was used in three children with bilateral congenital obstruction of the lacrimonasal duct (six cases) and upper canalicular abnormalities (five cases). The upper canalicular abnormalities prevented bicanaliculonasal intubation.A silicone tube was passed through the lower canaliculus, traversing the lacrimal drainage system and into the nasal fossa. The proximal end of the tube was placed subconjunctival in the inferior fornix and secured. The distal end of the tube was passed through the subcartilaginous nasal septum to the contralateral nasal fossa and tied to a tube similarly passed through the opposite lacrimal system.The procedure was successful in all six cases, with all tubes remaining in place the desired length of time. Postoperative identification and removal of the tubes offered no difficulties and was followed by permanent patency of the lacrimal drainage system in all six cases.
J Pediatr Ophthalmol Strabismus
PMID:Monocanalicular lacrimonasal intubation. 2488 Jan 66

The authors retrospectively evaluated the use of botulinum toxin injections to treat epiphora in children secondary to proximal obstruction of the nasolacrimal drainage system. Three patients (ages 8, 9, and 16 years) received botulinum toxin injections in the palpebral portion of the lacrimal gland. Two patients experienced symptomatic relief immediately following botulinum toxin injection. Both required subsequent injections, with an average symptomatic relief lasting 7 months. The only noted side effect was papillary conjunctivitis in one patient that resolved without treatment. The third patient was lost to follow-up. Although conjunctival dacryocystorhinostomy with Jones tube is the surgical procedure of choice for treating proximal lacrimal system obstruction, complication rates in children are high. Botulinum toxin injections provide a safe and effective alternative.
J Pediatr Ophthalmol Strabismus 2014 Dec 01
PMID:Botulinum toxin injection into the lacrimal gland for treatment of proximal nasolacrimal duct obstructions in children. 2542 40

NGLY1-related disorder is a newly described autosomal recessive condition characterized by neurological, hepatic, ophthalmological findings and associated with dysmorphic features, constipation and scoliosis. It is caused by mutations in NGLY1, which encodes an enzyme, N-glycanase 1, involved in deglycosylation of glycoproteins, an essential step in the endoplasmic reticulum-associated degradation (ERAD) pathway. The disorder has been described in eight patients. We investigated the molecular basis and phenotype of NGLY1-related disorder in an additional patient. The proband is a 14-year-old who presented in early infancy with profound hypotonia and elevated transaminases. Liver biopsy showed lipid accumulation with dilated endoplasmic reticulum. He exhibited global developmental delay, acquired microcephaly, seizures, involuntary body movements, muscle atrophy, absent reflexes, and poor growth. He had multiple procedures for lacrimal duct stenosis and strabismus and had intractable blepharitis. He had severe osteopenia and persistent hypocholesterolemia. Whole exome sequencing revealed two novel variants in NGLY1: a truncating mutation, c.347C > G (p.S116X), and a splicing mutation, c.881 + 5G (p.IVS5 + 5G>T), predicted to abolish the splice donor site of exon 5. This study, along with previously reported cases, suggests that mutations in NGLY1 cause a recognizable phenotype and targeted sequencing should be considered in patients with typical presentation. This study expands the molecular spectrum of NGLY1-related condition and suggests that osteopenia and hypocholesterolemia may be part of the phenotype.
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PMID:Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations. 2570 56


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