Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year-old female manifested bilateral prominent Schwalbe's line, iridal adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors. Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye. Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 11-year-old female and discusses the pertinent clinical features of this condition.
J Pediatr Ophthalmol Strabismus
PMID:Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case. 10 18

A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.
J Pediatr Ophthalmol Strabismus
PMID:Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome. 143 5

Incontinentia pigmenti achromians is a multisystem hereditary disorder characterized specifically by a whorled or streaked cutaneous hypopigmentation and frequently characterized by numerous neurologic, musculoskeletal, and ocular abnormalities. We present a patient with incontinentia pigmenti achromians in whom the ocular abnormalities included the commonly reported exotropia, myopia, small optic nerve, and hypopigmentation of the fundus, as well as rarely reported corneal asymmetry, pannus, and atropic irides with irregular pupillary margins. The patient also had a cataract in the right eye and a retinal detachment in the left eye.
J Pediatr Ophthalmol Strabismus
PMID:The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). 189 May 74

Three infant boys with a bilateral congenital retinopathy characterized by retinal vascular hypoplasia and persistence of the primary vitreous are described. The infants were healthy and had no non-ocular physical abnormalities. None had histories of prematurity or low birth weight. Family histories were negative to similar retinopathy, and the fundi of all examined blood relatives were normal. The described congenital retinopathy is compared and contrasted with persistent hyperplastic primary vitreous, Norrie's disease, idiopathic retinal dysplasia, familial exudative vitreoretinopathy, retinopathy of prematurity, and incontinentia pigmenti.
J Pediatr Ophthalmol Strabismus
PMID:Bilateral retinal vascular hypoplasia associated with persistence of the primary vitreous: a new clinical entity? 328 58

A case is reported of a five-month-old female with incontinentia pigmenti associated with nasolacrimal duct obstruction. Ocular manifestations of incontinentia pigmenti have previously been described to include persistent hyperplastic primary vitreous, retinal dysplasia, retrolental fibroplasia, corneal opacities, cataract, optic atrophy, and strabismus. This case is believed to be the first reported instance of incontinentia pigmenti associated with nasolacrimal duct obstruction. The management of this patient is also discussed.
 ...
PMID:Incontinentia pigmenti associated with nasolacrimal duct obstruction. 652 80

Incontinentia pigmenti is a component of the Bloch-Sulzberger syndrome, which consists also of several major anomalies involving the central nervous system, skeleton, teeth, and the eye. Important manifestations include seizures, mental retardation, microcephaly, deformities of the skull and vertebrae, cleft palate, dystrophy of the nails, and abnormal or missing teeth. Although usually listed as a disease with which congenital cataract is associated, the more important ocular findings are those of the posterior segment, resembling lesions that enter into the differential diagnosis of the white pupil. The skin disturbance is characteristic and occurs very early in life; it may disappear entirely, obscuring the diagnosis if the ocular lesions are discovered later. The Bloch-Sulzberger syndrome usually is inherited as an X-linked dominant with lethality for males. It is a rare but important entity to the pediatric ophthalmologist.
J Pediatr Ophthalmol Strabismus
PMID:Ocular lesions in incontinentia pigmenti. 686 15

This report describes a young girl with ocular and dermatologic manifestations of incontinentia pigmenti. Fortunately, she has thus far been spared the more severe systemic problems, as well as any vision-threatening complications. However, a unique finding of sector stromal hypoplasia of the iris in her left eye was noted. It is interesting to speculate that this iris pigmentary disturbance may in some way relate to the underlying pigmentary disturbance seen in the skin and in the retinal pigment epithelium.
J Pediatr Ophthalmol Strabismus
PMID:Iris hypoplasia in incontinentia pigmenti. 717 27

Incontinentia pigmenti is a rare genodermatosis that most commonly involves the skin, eyes, teeth, and central nervous system. We describe it in two generations. Two twin girls were observed at birth with a characteristic whorling pattern of erythema, patch, and plaques, and were later found to have dental anomalies and eye findings consisting of black pigment granules around the macula and optic nerve head. One child also had strabismus, the most common eye change, and an atrial septal defect. A scarring scalp alopecia was evident in both twins and their mother, who also had typical dental findings.
 ...
PMID:Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. 893 72

Incontinentia Pigmenti is a rare, X-linked, dominant disorder in which affected female infants develop characteristic abnormalities of the skin, central nervous system, hair, teeth, and eyes. Ocular abnormalities occur in about 35% of patients and consist of proliferative vitreoretinopathy, retinal detachment, strabismus, cataract, microphthalmia, optic nerve atrophy, and iris hypoplasia. Retinal vascular abnormalities, ranging from peripheral retinal avascularity to neovascular and fibrous proliferation with traction retinal detachment, are the primary cause of severe visual dysfunction in patients. Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. We report a case in which laser photocoagulation was used at the onset of retinopathy with subsequent resolution of the vasculopathy.
 ...
PMID:Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti. 1150 87

Incontinentia pigmenti is a rare, X-linked dominant, genodermatosis and is almost always lethal in males. It is characterized by cutaneous, ocular, dental, and central nervous system (CNS) abnormalities and about 35% of patients develop some form of ocular abnormality, which may include retinal vascular abnormalities, ischemic retinal infarctions, retinal detachments, cataracts, uveitis, strabismus, and nystagmus. Incontinentia pigmenti has been linked to the NEMO gene, which is mapped to Xq28.
 ...
PMID:Fluorescein angiographic findings in a male infant with incontinentia pigmenti. 1749 89


1 2 Next >>