Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present, with a minimal follow up of six months, the results of 118 silicone oil removals following successful treatment of retinal detachment by pars plana vitrectomy and silicone oil injection. A recurrent retinal detachment occurred in 8.5% of cases, 13% of the 61 phakic eyes at the time of silicone oil removal maintained a clear lens, 29.6% of the eyes had a raised intraocular pressure and 6.8% had a keratopathy. The visual acuity improved in 72.8% of eyes after silicone oil removal. The main reasons for a late decrease in visual acuity were recurrence of the detachment, hypertonia, chronic hypotonia and keratopathy. All the eyes with late complications after silicone oil removal had a clinically significant droplet dispersion in the anterior chamber. Only complete and early silicone oil removal seems to decrease the complication rate.
 ...
PMID:[Long-term results of successful surgical treatment of retinal detachment by vitrectomy and silicone oil injection. Effect of removal of the tamponade on further complications]. 143 Aug 11

A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in addition to pachygyria on CT. At the age of 3 years, retinal detachment developed in both eyes. Another sibling exhibited at birth such characteristic features as pachygyria, cephalocele, hydrocephalus, retinal detachment in both eyes, elevated serum creatine kinase activity and arthrogryposis multiplex congenita. We consider these findings to be more consistent with Walker-Warburg syndrome (WWS) than with FCMD. Anencephaly found in the third sibling was regarded as WWS with extreme brain abnormality. The appearance of two syndromes (FCMD and WWS) in the three members of the same family suggests that these syndromes could be allelic with variable phenotypes.
 ...
PMID:Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. 145 90

Sulfur hexafluoride (SF6) is used for internal tamponade during retinal detachment surgery. It is usually injected into the eye by a plastic syringe either with a sharp needle or by using the infusion system during pars plana vitrectomy. Although several suggestions exist for the appropriate application of intraocular SF6 and other perfluocarbons, a sudden postoperative rise in tension or hypotonia has been observed repeatedly. We simulated the preparation and application of mixtures of sulfur hexafluoride and air and analyzed possible mistakes. SF6 was quantitatively analyzed by infrared spectroscopy. SF6 does not rapidly diffuse out of capped plastic syringes made of polypropylene, as commonly employed in the Federal Republic of Germany. SF6 and air mix completely during aspiration. If the volume of microporefilters or tubes being used for preparation and instillation of mixtures of SF6 and air is ignored, this may result in a 20% deviation in SF6 concentration. Silicone tubes, which are widely used for the influsion during pars plana vitrectomy, are not recommended for the application of SF6. SF6 and fluorcarbones diffuse through silicone tubes and absorb and desorbe in the tube. Infusion lines made of polyethylene or polyvinylchloride, e.g. butterflies, should be preferred.
 ...
PMID:[Dosage errors and their prevention in intraocular SF6 injection for endotamponade in pneumatic retinopexy and after vitrectomy]. 179 81

Performing early vitrectomy with primary silicone oil filling in 11 severely injured eyes (large or multiple intraocular foreign bodies, double perforations, ruptures - all with vitreous hemorrhage and retinal detachment), the authors succeeded in treating the posterior segment trauma with adequate hemostasis in ten cases. During postoperative follow-up of between 12 and 39 months there were no recurrences of hemorrhage. Primary retinal reattachment was achieved in seven eyes. A traction detachment due to proliferative vitreoretinopathy developed in three eyes at a relatively late stage (6-19 months postoperatively): reoperation was successful in two cases. With regard to functional results, six eyes had a visual acuity of between 1/25 and 0.6, and in four it was in the range between perception of light projection and hand movements. There were three cases with keratopathy encouraged by aniridia or hypotonia. One eye with emulsification of the silicone oil developed a secondary glaucoma which responded to topical treatment. In three cases the silicone oil was removed without complications. In one eye there was an expulsive choroidal hemorrhage which could not be managed intraoperatively and which led to phthisis and amaurosis postoperatively.
 ...
PMID:[Early vitrectomy with primary silicone oil injection in very severely injured eyes]. 322 56

Tearing of the retinal pigment epithelium following trabeculectomy for chronic open-angle glaucoma in two patients is reported. In one patient, the tear was diagnosed on the 4th postoperative day. It started a few disc diameters above the temporal vascular arcade, crossed the temporal part of the macula and extended to the equator in the lower temporal periphery. At the acute stage, hypotonia and exudative retinal detachment were found. In the other patient, the tear was equatorial extending from the upper nasal to the lower nasal quadrant. At the acute stage, hypotonia and choroidal detachment, but no exudative retinal detachment, were present. After 1 year, the retina was flat in both eyes and no further complications were noted.
 ...
PMID:Tearing of retinal pigment epithelium after glaucoma surgery. 365 29

At the Second Ophthalmological Clinic in Prague the authors operated between January 1991 and November 1993 50 patients, 33 men and 17 women. The mean age of the patients was 43.6 years, the minimum observation period 5 months. In all patients pars plana vitrectomy was performed (PPV) and at the end of the operation or subsequently into the vitreous space the expansive gas SF6 (hexafluorosulphide) or C3F8 (perfluoropropane) was insufflated. In all instances the authors indicated the expansive gas for treatment or prevention of retinal detachment and with regard to this they divided the patients into two groups: 1. From the total number of 50 patients the authors operated in the first group 31 patients with complicated retinal detachment (RD). In 17 patient RD with large postequatorial tears and traces of blood in the vitreous space were involved. In 7 patients the cause of RD was a severe eye injury. In five patients the authors found a macular opening, in one patient a large postequatorial tear in the temporal half and in one patient a circumscribed tractional RD associated with diabetic proliferative retinopathy was involved. 2. In the second group of 19 patients the gas was used as prevention of RD. In 5 patients after transvitreal extraction of a foreign intraocular body with suspected or obvious retinal defect. In two patients after extraction of a posterior lenticular luxation following severe contusion of the eye. In the remaining 12 patients the expansive gas was used after removal of silicone oil (SO) and the gas was used at the same time to prevent hypotonia of the eye. Anatomical results of surgery. 1. In the group of 31 patients with complicated RD after PPV and gas insufflation the retina adhered anatomically in 23 patients (74%). In the group with PVR C1-C3 in 13 patients after gas insufflation the retina became attached in 10 patients (76.9%). In one of these patients after three months accentuated cerclage was performed because of a new fissure. 2. In the group of 19 patients where gas was used for preventive reasons the retina became detached only after removal of SO in 5 of 12 patients (42%). Functional results of operation. To assess final vision the authors evaluated in the first group a total of 39 patients only after gas insufflation and in the second group another 11 patients after reoperation with implantation of SO.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:[Personal experience with expanding gases in pars plana vitrectomy]. 780 15

We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.
 ...
PMID:Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome. 1126 Feb 10

Incontinentia pigmenti (IP) is a rare, X-linked dominant disorder that presents at or soon after birth with characteristic cutaneous signs. The eyes and central nervous system are the next most commonly affected systems. We aimed to describe the ophthalmological, neurological and radiodiagnostic findings of a patient with IP and bilateral retinal detachment. Clinical and laboratory findings of a four-month-old female baby who did not have light fixation and had neurological maturation retardation are presented. Characteristic skin lesions of IP were noted especially at the extremities, bilaterally. On neurological examination, motor and mental maturation were retarded and axial hypotonia was noted. Bilateral retinal detachment was the cause of absent eye fixation noted during ophthalmologic examination, and the detachments were also documented by ultrasonography and magnetic resonance imaging (MRI). Otologic examination was normal. Focal left frontal lobe atrophy, corpus callosum hypoplasia and prominence of right hemisphere were also noted on MRI. MR spectroscopy revealed negative lactate peak at the involved left frontal lobe. Bilateral retinal detachment is a probable finding in IP and patients with neurological symptoms should be investigated for associated sight-threatening ocular pathologies.
 ...
PMID:Incontinentia pigmenti: a case report and literature review. 1948 Mar 36

Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant alpha-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.
 ...
PMID:An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 1967 78

Walker-Warburg syndrome (WWS) is a disorder characterized by ocular and brain malformations, and congenital muscular dystrophy. Retinal malformations are common in WWS; however, bilateral retinal detachment is a rare occurrence. We present a case of a newborn baby delivered at 36+3 weeks, who was the first living child of consanguineous parents of Turkish origin. On antenatal anomaly scans, the fetus had hydrocephalus that had increased throughout pregnancy, and a diagnosis of hydrancephaly was made at 36 weeks of gestation. Hypotonia, cleft lip and palate, poor suck and absent gag reflex were noted at birth. Ophthalmic examination at the age of 2 days revealed bilateral funnel retinal detachment. B-scan ultrasonography confirmed these findings, and magnetic resonance imaging (MRI) of the brain was performed at the age of 13 days to establish a diagnosis. The MRI showed lissencephaly, hydrocephalus and thin rim of brain parenchyma, with a cobblestone appearance of the cortex and pontine and cerebellar hypoplasia, consistent with the diagnosis of WWS. The infant deteriorated and died at 39 days of age from complications associated with the brain anomalies. In summary, bilateral retinal detachment is extremely rare and in association with hydrocephalus and posterior fossa anomalies strongly suggests the diagnosis of WWS.
 ...
PMID:Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. 2938 18


1 2 Next >>