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

Two brothers, the only two children of nonconsanguineous parents, have no perception of light, bilateral microphthalmos, and degenerative corneal opacities that just allow observation of shallow anterior chambers and cataracts. The right eye of the older was removed at the age of 6 weeks: "congenital retinal detachment" was found. The birth of a subsequent affected son suggests that recessive genes are responsible. An X-linked gene is calculated to be more likely than autosomal recessive genes. These two males may suffer from a form of Norrie's disease without mental deficiency, however, they may be examples of the severest form of "falciform retinal folds" (autosomal recessive) or they may represent the same end-result from a different inherited pathological process. After the birth of the first affected child, the parents had been reassured that this undiagnosed, and at that time unknown condition, would not affect future children. The tragedy of a second affected child followed. We suggest that recessive genes (autosomal or X-linked) be specifically considered--with literature search--in any sporadic case of a bilateral symmetrical condition of the eyes not hitherto well known, especially if congenital, and in the absence of consanguinity of parents affected males in previous maternal generations. The possibility of a dominant mutation when a single case occurs in a sibship should also be considered.
J Pediatr Ophthalmol Strabismus
PMID:Congenital hereditary bilateral nonattachment of retina: a sibship of two males. 52 77

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

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 differential diagnosis of leukocoria (pseudoglioma) in the neonate includes multiple conditions, including malformations with retinal dysplasia as a component. Typically bilateral, retinal dysplasia is characteristically seen in microphthalmic eyes. Certain chromosomal defects have been described. The case reported herein presented in the first month of life with an enlarged eye, elevated intraocular pressure, prominent iris vasculature, and leukocoria. Family history was positive in one respect: this is the second child of a Viet Nam veteran exposed to Agent Orange. The first child, from a different mother, also had birth defects. Other than his left eye, the child is completely normal. Ultrasonography showed posterior vitreous opacities of indeterminate configuration. CT scan suggested a posterior intraocular mass. Histologically, the principal features were an anomalous, largely unformed corneoscleral angle, intraocular hemorrhage, and retinal dysplasia. Light microscopic studies were performed. The corneoscleral angle revealed an anteriorly inserted iris with an absence of trabecular meshwork and Schlemm's canal. This case is considered unique on the basis of the association of retinal dysplasia with congenital glaucoma and larger-than-normal eye. The significance of reported paternal exposure to Agent Orange in this instance is unknown.
J Pediatr Ophthalmol Strabismus
PMID:Congenital glaucoma and retinal dysplasia. 404 44

Three children with histopathologically diagnosed sclerosing endophthalmitis presumably secondary to Toxocara canis were studied by orbital computed tomography. The diffuse increased intraocular density present in the CT scans was indistinguishable from that observed in Coats's disease and non-calcifying retinoblastoma. Although retinoblastoma constitutes the major life-threatening cause of leukocoria in children, a number of other simulating conditions (pseudoglioma) can cause diagnostic confusion. In some cases of leukocoria it is exceedingly difficult to exclude the possibility of retinoblastoma without having to resort to enucleation. The availability of new non-invasive tests may make the distinction between retinoblastoma and pseudogliomas more easily attainable. Computed tomography (CT) has been shown to be of particular value in this regard by demonstrating intraocular calcification within retinoblastoma and rarely in lesions that stimulate it. CT may also be used to more appropriately plan therapy for children with retinoblastoma by assessing the status of the optic nerve and orbit. The exact role of CT in the evaluation of children with leukocoria, however, has not been completely established, since the computed tomographic features of several lesions that simulate retinoblastoma have not been described. The three most common causes of pseudoglioma are persistent hyperplastic primary vitreous, Coats's disease and sclerosing endophthalmitis. The latter entity when associated with a characteristic granulomatous inflammation is considered to represent the sequela of Toxocara canis infection of the eye. This report describes the computed tomographic findings in three cases of histologically diagnosed sclerosing endophthalmitis, presumably due to Toxocara canis.
J Pediatr Ophthalmol Strabismus
PMID:Sclerosing endophthalmitis in children: computed tomography with histopathologic correlation. 660 22

We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.
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PMID:A new X-linked multiple congenital anomalies/mental retardation syndrome. 671 4

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

Focal dermal hypoplasia (Goltz Syndrome) is a rare congenital disorder resulting from ectodermal and mesodermal dysplasia. It involves ocular tissues in over 40% of cases. Considered to be X-linked dominant, the disorder characteristically occurs in females. This case represents, however, the ninth male affected by this disease to be reported in the literature. Ocular abnormalities included colobomatous microphthalmia, aniridia, and recurrent papillomas arising from the conjunctiva and lid margins. Both light and electron microscopic studies performed on papillomatous tissue failed to demonstrate the presence of viral particles. Prometaphase chromosome analysis performed on peripheral blood cells, and on papilloma cells grown in tissue culture, showed a normal male karyotype of 46, XY.
J Pediatr Ophthalmol Strabismus
PMID:Focal dermal hypoplasia: ocular manifestations in a male. 715 24

Visual acuity, refractive error, and binocular status were determined in 43 autosomal recessive (AR) and 15 X-linked (XL) congenital achromats. The achromats were classified by color matching and spectral sensitivity data. Large interindividual variation in refractive error and visual acuity was present within each achromat group (complete AR, incomplete AR, and XL). However, the number of individuals with significant interocular acuity differences is very small. Most XLs are myopic; ARs show a wide range of refractive error from high myopia to high hyperopia. Acuity of the AR and XL groups was very similar. With-the-rule astigmatism of large amount is very common in achromats, particularly ARs. There is a close association between strabismus and interocular acuity differences in the ARs, with the fixating eye having better than average acuity. The large overlap of acuity and refractive error of XL and AR achromats suggests that these measures are less useful for differential diagnosis than generally indicated by the clinical literature.
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PMID:Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status. 884 24


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