Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The differential diagnosis between the diseases which cause leucocoria is discussed. Among them congenital cataract, persistence of the primary vitreous, retrolental fibroplasia, retinoblastoma, Coats' disease, von Hippel's disease, inflammatory pseudoglioma, Norrie's disease, and organized intraocular haemorrhage are mentioned.
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PMID:Neonatal or juvenile leucocoria. 54 49

The differential diagnosis between the diseases, which cause leukokoria, is discussed. Among them congenital cataract, persistence of the primary vitreous, retrolental fibroplasia, retinoblastoma, Coats' disease, von Hippel's disease, inflammatory pseudoglima, Norrie's disease, and organized intraocular hemorrhage are mentioned.
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PMID:Differential diagnosis of leukokoria in children. 56 7

We report on a 46-year old white male with Norrie disease. In the right eye he had a keratotorus with non vascularized corneal scars and mature cataract. After penetrating keratoplasty a pseudoglioma with irreversible total retinal detachment was found. The left eye had phthisis bulbi with corneal pannus and band keratopathy, shallow anterior chamber, posterior synechia and mature cataract.
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PMID:Keratotorus in Norrie disease. 196 Sep 30

Norrie's disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of the blind males. Carriers are clinically unaffected. The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked cataract and congenital retinal detachment.
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PMID:Norrie's disease. 500 36

Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness. The salient clinical feature early in life is a dense, white, vascularized mass behind each lens due to maldeveloped retina. Cataracts and corneal opacities are developed in young childhood, followed by bulbar atrophies. Histopathologic examination suggests primary vitreoretinal dysplasia because of developmental arrest of the retina in the middle embryonic stage. Occasional patients show psychomotor retardation or progressive hearing loss as part of a multisystem disorder. The disease is transmitted by an X-linked recessive form of inheritance, with sons of female carriers having a 50% risk for expressing the disease. In recent years, a candidate gene for Norrie disease has been isolated and characterized, which encompasses 27 kilobases and consists of three exons interspersed by two introns. Microdeletions and a variety of point mutations in the disease gene were identified in Norrie patients, although the genotype-phenotype correlation remains to be defined, and molecular diagnosis is now available for Norrie disease. The encoded protein has homology to a protein domain involving mucins and TGF beta, which may play an essential role in targeting of retinal/neural connections.
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PMID:[A literature review of Norrie disease]. 885 Nov 48

Persistent hyperplastic primary vitreous (PHPV) is a common congenital developmental anomaly of the eye that results following failure of the embryological, primary vitreous and hyaloid vasculature to regress. It typically presents unilaterally without associated systemic findings. Although the etiology is assumed to be identical in each of its three variants, PHPV is still subclassified into three presentations. The purely anterior presentation of PHPV is also known as persistent tunica vasculosa lentis and persistent posterior fetal fibrovascular sheath of the lens. It occurs in eyes with pathology of the anterior segment. This form typically involves cataract, glaucoma and a retrolenticular membrane. The purely posterior presentation of PHPV is termed falciform retinal septum and ablatio falcicormis congentia. It occurs in eyes with abnormalities confined to the posterior segment such as retinal folds, vitreal stalk, vitreal membranes, macular abnormalities and optic disc abnormalities. A combination of anterior and posterior presentations is the most commonly seen clinical presentation. Case report. We present a case in which an 11-year old male was referred to our office for reevaluation of a large angle esotropia, strabismic and deprivational amblyopia and previously diagnosed PHPV, OD. Conclusion. Without treatment, PHPV can produce recurrent intraocular hemorrhage, secondary glaucoma and eventually require enucleation. Early surgical intervention is necessary to prevent progressive pathologic changes and to obtain the best visual results. Finally, while PHPV is a documented source of leukocoria, clinicians should be aware of differential diagnoses which involve the white pupil (congenital cataract, retinoblastoma, Norrie's disease, retinopathy of prematurity, retinal detachment and Coat's disease).
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PMID:Persistent hyperplastic primary vitreous. 1113 27