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

A 38-year-old patient showed monocular nonprogressing pigmentary changes for 8 years, with nearly normal blood vessels and scarcely restricted dark-adaptation. ERG and VER were different from those of the other eye. The affected eye had full vision and an annular scotoma corresponding to the pigmentary changes. The other eye was amblyopic due to strabismus. Phenotypes, similar to retinitis pigmentosa, and chorioretinitis diffusa are discussed. This is probably a congenital anomaly.
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PMID:[A case of monocular retinitis pigmentosa (author's transl)]. 120 57

The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth, hypothyroidism and liver steatosis. Increased serum glycoprotein-deficient transferrin is a marker of the disease and confirms the diagnosis. We describe four Norwegian children with this syndrome. Olivopontocerebellar degeneration was found upon examination of the brain in two patients who died.
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PMID:[The carbohydrate deficient glycoprotein syndrome]. 1044 Oct 90

Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.
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PMID:Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. 209 58

The current status regarding genetic counseling in X-linked retinitis pigmentosa (XLRP) is reviewed. XLRP is the most severe form of retinitis pigmentosa (RP) and leads to blindness in the third or fourth decade of life. The biochemical basis of the disease is not known. Until now genetic counseling in this disease has been dependent on simple Mendelian laws of inheritance and the detection of carriers by clinical and electrodiagnostic means. The limitations with regard to carrier detection are discussed. With the recent advances made in recombinant DNA technology, genetic counseling has come to play an important part in the management of XLRP. The methods of DNA technology and their application to localizing the XLRP gene on the X chromosome are reviewed. The discovery of DNA linkage markers known as restriction fragment length polymorphisms (RFLPs) allow a marker closely linked to a disease gene to be followed through succeeding generations in an affected family. Since linkage studies suggest two XLRP loci, carrier detection and prenatal diagnosis of the disease still remain problematic.
J Pediatr Ophthalmol Strabismus
PMID:Genetic counseling in X-linked retinitis pigmentosa. 256 70

We report on five girls (including monozygotic twins) with a newly recognized disease comprising severe neurologic disturbances, variable hepatomegaly, abnormal subcutaneous fat distribution and skeletal anomalies. The neurologic picture was characterized by moderate to severe psychomotor retardation, alternating internal strabismus , hypotonia, hyporeflexia and ataxia. Biochemical investigations showed a number of abnormalities such as tubular proteinuria, slightly increased serum transaminases, hypoalbuminemia, hypo-beta-lipoproteinemia and decreased serum thyroxine-binding globulin. Moreover there was retinitis pigmentosa, cerebellar hypotrophy and electrophysiologic evidence for a peripheral neuropathy. However, histologic examination of a nerve biopsy in one of the patients failed to show myelin abnormalities. On the other hand, abnormal lamellar inclusions were found in the lysosomes of some Schwann cells and of liver tissue as well. Additional investigations in four patients revealed a deficiency of sialic acid, galactose and N-acetylglucosamine of plasma glycoproteins. Enzymatic analysis of serum suggested a deficiency of an N-acetyl-glucosaminyltransferase. Remarkably, the (healthy) fathers but not the mothers presented the same carbohydrate deficiencies of plasma glycoproteins albeit to a much lesser degree. The mode of hereditary transmission of this disease remains unclear; the possibility of X-linked inheritance is under investigation.
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PMID:[A not-previously described hereditary neurological disease with a deficiency of sialic acid, galactose and N-acetylglucosamine of plasma glycoproteins]. 260 46

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.
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PMID:Prevalence and mode of inheritance of major genetic eye diseases in China. 350 Mar 13

Rod ERGs were obtained over a broad range of stimulus intensities from young patients with retinitis pigmentosa and progressive cone-rod degeneration. Intensity-response functions suggest that children with retinitis pigmentosa have reductions in the number of functioning rods and that surviving rods generating the ERG have reduced sensitivity. Children with cone-rod degeneration also have reduced numbers of rods, but the remaining rods have normal sensitivity. These findings suggest that the underlying mechanisms of rod degeneration differ in these two forms of disease and demonstrate that insights into the pathogenesis of hereditary retinal degeneration can be obtained by testing children. The ability to distinguish between retinitis pigmentosa and cone-rod degeneration in children is also important because of differences in the rates of progression between the two classes of progressive retinal degeneration.
J Pediatr Ophthalmol Strabismus
PMID:Rod ERGs in children with hereditary retinal degeneration. 377 90

Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.
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PMID:Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. 382 12

The frequency of genetic eye diseases in a genetic counseling center: In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented. The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.
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PMID:The frequency of genetic eye diseases in a genetic counseling center. 877 20

We report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found. In addition, decreased vision, refractive errors, strabismus, and optic disc anomalies were reported in CFC patients. This observation suggests that NS and CFC are variable manifestations of the same entity.
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PMID:Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? 891 97


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