Cases reported "Eye Abnormalities"

Filter by keywords:



Filtering documents. Please wait...

1/373. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.

    Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.
- - - - - - - - - -
ranking = 1
keywords = congenita, defect
(Clic here for more details about this article)

2/373. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

    Two male relatives with fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. fabry disease is an X-linked inborn error of glycosphingolipid metabolism resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A) enzyme. The alpha-Gal A gene is located at Xq22.1. Efforts to establish genotype-phenotype correlations have been limited because most patients have private mutations. In previous clinical studies performed in families with fabry disease, marked differences in phenotype are described between affected relatives. This family also demonstrates the difficulty in predicting the clinical phenotype in patients and relatives with the same alpha-Gal A mutation. Furthermore, in the absence of a family history, the diagnosis may be easily missed.
- - - - - - - - - -
ranking = 23.675235276613
keywords = dysplasia
(Clic here for more details about this article)

3/373. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.

    PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.
- - - - - - - - - -
ranking = 1.6331275883326
keywords = defect
(Clic here for more details about this article)

4/373. Ophthalmic findings in GAPO syndrome.

    BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.
- - - - - - - - - -
ranking = 264.88849669536
keywords = ectodermal dysplasia, dysplasia, defect
(Clic here for more details about this article)

5/373. A patient with VACTERL association, amelia and hemifacial microsomia.

    We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias.
- - - - - - - - - -
ranking = 48.560917931363
keywords = dysplasia, aplasia, defect
(Clic here for more details about this article)

6/373. Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome.

    ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eyes showed a posterior staphyloma. Histopathologically, bilateral centrally located subepithelial avascular corneal scarring with secondary corneal amyloid deposition was found. In addition to already described ocular abnormalities in IFAP syndrome we demonstrate ultrastructural anomalies of desmosomes and tonofilaments in corneal epithelium; defects of basement membrane, Bowman layer, and anchoring fibrils; secondary corneal amyloid deposition; and keratocyte degeneration. A defective tear film, recurrent atopic keratoconjunctival inflammations, or a primary anomaly of corneal epithelial adhesion are potential causes for the corneal defects. photophobia is most likely due to corneal abnormalities.
- - - - - - - - - -
ranking = 0.81656379416632
keywords = defect
(Clic here for more details about this article)

7/373. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

    Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. The combined deficiency has been found to result from a defect in protective protein/cathepsin a (PPCA), an intralysosomal protein which protects these enzymes from premature proteolytic processing. The most severe form of GS, the early-infantile form, results in early onset of edema, ascites, visceromegaly, and skeletal dysplasia. We report a case of early-infantile GS in a male infant who presented with nonimmune fetal hydrops (NIH), "coarse" facial appearance, massive fluid-filled inguinal hernias, multiple telangiectasia, and diffuse hypopigmentation; he subsequently developed visceromegaly. The diagnosis of GS was confirmed biochemically and the defect in PPCA characterized at the protein level. Examination of fetal peripheral blood smears sampled at 30 weeks gestation demonstrated vacuolation of lymphocytes, suggesting blood film examination may be a useful screening tool for cases of NIH where a metabolic disorder is suspected. Skeletal radiography at birth demonstrated punctate epiphyses of the femora, calcanei, and sacrum. We present a discussion of and differential diagnosis for this radiographic finding. To the best of our knowledge, this is the first case of early-infantile GS presenting with stippled epiphyses.
- - - - - - - - - -
ranking = 24.219611139391
keywords = dysplasia, defect
(Clic here for more details about this article)

8/373. Anaesthesia for sturge-weber syndrome.

    A 6-month-old boy with sturge-weber syndrome was scheduled for congenital glaucoma and left buphthalmus surgery. physical examination revealed haemangioma throughout the right trigeminal nerve, congenital glaucoma, left megalocornea and bilateral buphthalmus. Examination of the eye was performed under general anaesthesia, was followed 2 days later by trabeculotomy. No premedication was given to the patient. After induction of anaesthesia with halothane, O2 and N2O muscle relaxation was achieved with atracurium and he was intubated gently. No difference was observed in vital signs during surgery. At the end of the operation he was given oxygen 100% and extubated, muscle relaxant reversal was with atropine and neostigmine. No complication was observed in the post-operative period.
- - - - - - - - - -
ranking = 0.9112482744449
keywords = congenita
(Clic here for more details about this article)

9/373. Clinical features of congenital absence of the superior oblique muscle as demonstrated by orbital imaging.

    INTRODUCTION: Absence of an extraocular muscle was considered rare when demonstrable only by surgical exploration or necropsy. This study presents advances in orbital imaging to correlate clinical findings with absence of the superior oblique (SO) muscle. methods: We performed high-resolution coronal orbital imaging by magnetic resonance imaging (222 orbits) or computerized radiographic tomography (32 orbits) in 127 patients with strabismus. We reviewed the histories and ocular motility examinations in patients who had absence of 1 or both SO muscles. Findings were compared with patients who were clinically diagnosed with SO palsy but had demonstrable SO muscles on orbital imaging. RESULTS: SO muscles were absent in 6 patients. All had histories suggesting congenital strabismus. In patients old enough for quantitative testing who had unilateral SO muscle absence, visual acuity was a least 20/25 in all and stereopsis was better than 80 arc/s in one. Three patients were orthotropic in primary position. Five patients with unilateral SO muscle absence had clinical findings variably consistent with SO palsy, whereas a sixth patient with Duane syndrome had clinically unsuspected bilateral SO muscle absence. Versions and patterns of hypertropia in patients with SO muscle absence overlapped findings of 20 patients with SO palsy but demonstrable SO muscles. CONCLUSIONS: Imaging can frequently demonstrate absence of the SO muscle in patients with SO palsy. Such patients may have good vision and stereopsis and clinical findings indistinguishable from SO palsy without absence of the SO muscle. Orbital imaging should be considered in the evaluation of congenital SO palsy to facilitate planning of effective surgical correction.
- - - - - - - - - -
ranking = 2.7337448233347
keywords = congenita
(Clic here for more details about this article)

10/373. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

    The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-type dna-binding domain. The paired domain is composed of two distinct dna-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus dna sequences. The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain. The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the dna-binding activity of the NTS and unmasks the dna-binding ability of the CTS. Thus, exon 5a appears to function as a molecular switch that specifies target genes. We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region. A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region. Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.
- - - - - - - - - -
ranking = 0.9112482744449
keywords = congenita
(Clic here for more details about this article)
| Next ->


Leave a message about 'Eye Abnormalities'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.