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At least 73 records · Page 4Linked to original sources
PubMed2005

Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism.

Trisomy 8 mosaicism can present with a wide variety of systemic and ophthalmologic manifestations. We report a patient with an extinguished electroretinogram and diffuse retinal pigment epithelial abnormalities suggestive of a rod-cone dystrophy, which has not been previously reported in association with trisomy 8. A finding that has been described in several patients with trisomy 8 is a central corneal opacity, but there are no data regarding the natural history of this finding; the corneal opacity in our patient spontaneously improved. This case expands the clinical spectrum of this rare entity.

Chromosomes, Human, Pair 8↗
PubMed1995

Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.

We report a 12-year-old girl with an unusual phenotype of Gaucher disease type 3. Liver glucocerebrosidase activity was 20% of the normal. In addition to common manifestations such as hepatomegaly, she showed primary communicating hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, and clinodactyly of hands and feet. We suspect cardiomyopathy to be due to myocardiac infiltration with Gaucher cells, and corneal opacities to result from an accumulation of lipid-like inclusions into the posterior stromal keratinocytes. We were only able to find one previously published sibship disclosing similar features, which could allow the delineation of a new clinical variant of Gaucher disease.

Adolescent↗
PubMed2004

Automated superficial lamellar keratectomy augmented by excimer laser masked PTK in the management of severe superficial corneal opacities.

AIM: To assess superficial lamellar keratectomy augmented by excimer laser smoothening with sodium hyaluronate 0.25%, for the management of superficial corneal opacities. METHODS: Consecutive procedure performed in 14 eyes (13 patients) with an automated microkeratome and excimer laser phototherapeutic keratectomy (PTK) smoothening using sodium hyaluronate 0.25%. MAIN OUTCOME MEASURES: UCVA, BCVA, pachymetry, degree of haze, ray tracing analysis, and complications. Mean follow up was 12 (SD 1.6) months. RESULTS: Mean preoperative haze from previous corneal refractive surgeries was 3.5 (SD 0.5) (11/14 cases). In one case, opacity was caused by ocular trauma and in two by infectious keratitis. The mean preoperative UCVA was 0.7 logMAR (0.2 (SD 0.13) decimal value). BCVA was 0.4 logMAR (0.4 (SD 0.17) decimal value). Mean preoperative corneal pachymetry was 508 (SD 62.5) micro m and mean opacity depth measured by corneal confocal microscopy was 115.2 (SD 49.4) micro m. At 6 months, 71.4% of the eyes with previous corneal refractive surgery showed grade I haze or less. Mean postoperative corneal pachymetry at 6 months was 352.36 (SD 49.05) micro m. CONCLUSIONS: Automated superficial lamellar keratectomy combined with excimer laser PTK smoothening assisted by sodium hyaluronate 0.25% induces a significant improvement of corneal transparency and visual acuity in cases of corneal opacity caused by previous refractive surgery, ocular trauma, and keratitis.

Adult↗
PubMed1981

Oval corneal opacities in beagles. III. Histochemical demonstration of stromal lipids without hyperlipidemia.

We found oral stromal avascular corneal opacities in 128 eyes of 75 beagles from 497 studied. There were three morphologic types that progressed in severity with time; nebular, racetrack, and white arc. Histochemical study of the earliest morphologic type (nebular) revealed neutral fats, cholesterol, phospholipids, and sometimes fatty acids both intracellularly and extracellularly. We found no elevation of serum cholesterol or triglycerides except in dogs with the most advanced morphologic type (white arc) and no alteration in thyrometabolic function. We think that oval stromal opacities in beagle corneas are a primary disorder of corneal lipid metabolism closely resembling the central crystalline dystrophy of Schnyder and may be an animal model for this human disease.

Animals↗
PubMed2001

Prediction of ocular irritancy of prototype shampoo formulations by the isolated rabbit eye (IRE) test and bovine corneal opacity and permeability (BCOP) assay.

The isolated rabbit eye (IRE) test and bovine corneal opacity and permeability (BCOP) assay were evaluated for their ability to predict the eye irritation potential of a range of hair shampoo formulations, some containing a novel non-surfactant ingredient known to be an ocular irritant. The additional endpoints of corneal swelling and histological examination were incorporated into the standard BCOP protocol. Historic Draize data were available for several of the formulations and served as a reference. The standard BCOP assay (without histology) failed to distinguish between shampoos of low and high irritant potential, when exposure times of 10 and 60 min were employed (for undiluted and 10% dilution of the shampoos, respectively) and the in vitro score classified the majority of formulations as mild. The incorporation of the histological endpoint to the BCOP protocol allowed discrimination between formulations of differing irritancy, and should be included to augment the standard BCOP protocol. Corneal swelling values did not, however, correlate with the irritant potential of the shampoos tested. The IRE which includes the endpoints of corneal swelling and histopathological scoring produced classifications of irritancy that were fairly consistent with in vivo data and distinguished between the high and low irritant potential shampoos.

Animal Testing Alternatives↗
PubMed1991

A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

Epidemiologic data of recent years have identified an important role of HDL deficiency in the etiology of atherosclerosis. Biochemical data suggest that some of these deficiencies may be a consequence of defects in the structural genes of HDL apolipoproteins or of plasma enzymes that modify HDL. We analyzed the genetic defect in a 42-yr-old patient suffering from corneal opacities and complete absence of HDL cholesterol but not of coronary artery disease, thus clinically resembling fish eye disease. The observation of an abnormal immunoblot banding pattern of apolipoprotein A-I (apo A-I) and of reduced lecithin: cholesterol acyltransferase (LCAT) activity in plasma led to sequence analysis of the genes for apo A-I and LCAT in this patient and his family. Direct sequencing of polymerase chain reaction amplified DNA segments containing the exons of the candidate genes, resulted in the identification of a frameshift mutation in apo A-I while the LCAT sequence was identical to the wild type. The apo A-I mutation was predictive for an extensive alteration of the COOH-terminal sequence of the encoded protein. Evidence for the release of this mutant protein into the plasma compartment and for the absence of normal apo A-I was derived from ultraviolet laser desorption/ionization mass spectrometry analysis. Our results suggest that a defective apo A-I is the causative defect in this case of HDL deficiency with corneal opacities.

Adult↗
PubMedDate not supplied

[Microcephaly, bilateral corneal opacity and congenital lobar holoprosencephaly with subsequent development of a rhabdomyosarcoma in a patient exposed to prenatal radiation].

INTRODUCTION: Most congenital malformations of which the cause is known are due to genetic or multifactorial causes or are secondary to a teratogen. Many congenital malformations are of unknown origin. However, the association of different malformations allows us to define the moment in which the noxous agent affected embryonic or foetal development. CLINICAL CASE: We present the case of a baby born after 40 weeks gestation, who had been exposed to ionising radiation before birth. Prenatal echography showed microcephaly and the karyotype was normal. The newborn baby had corneal opacities, microcephaly and complex encephalic malformations. The corneal opacity together with congenital glaucoma constitute Peters syndrome which leads to blindness, and is treated by trabeculectomy and bilateral corneal transplants. The microcephaly and lobar holoprosencephaly with agenesis of the corpus callosum led to reduced psychomotor development, hypertonia and epilepsy with an electroencephalogram recording of hemihypsarrythmia which was unsuccessfully treated with valproate and vigabatrine. At the age of 21 months the patient developed an embryonic rhabdomyosarcoma of the base of the tongue. He died with systemic infection whilst being treated with chemotherapy. CONCLUSIONS: The association of the malformations described has not previously been reported in the international data bases. Although it was not possible to prove that prenatal exposure to radiation caused the clinical condition described, the possibility of teratogenesis and carcinogenesis following such exposure means that pregnant women or those who may be pregnant should not be in places where radiodiagnosis is carried out.

Abnormalities, Multiple↗
PubMed1992

Bovine corneal opacity and permeability test: an in vitro assay of ocular irritancy.

Most of the published in vitro tests of ocular irritancy investigate a single parameter, generally cytotoxicity, using different cell types in culture. Although good correlations with in vivo data have been reported by some investigators, many of these studies examined only limited classes of products, mainly surfactants and cosmetic ingredients. To predict the irritant potential of compounds in development and process intermediates (which include a wide variety of chemical classes with variable physical characteristics), an assay which would allow great flexibility was needed. A recently published model of corneal opacity was appropriate for this purpose and therefore investigated. The method was substantially modified and extended to study, in the same assay, two important components of irritation, i.e., opacity and permeability. For opacity alone, values obtained for 44 common chemicals showed a correlation of r = 0.73 with published in vivo data. However, compounds like sodium lauryl sulfate and some medium-chain alcohols gave false-negative results, apparently because they produced destruction of corneal epithelium. Such an effect was quantified by the measure of corneal permeability to fluorescein, and changes observed were found to be consistent with the known irritant potential of the compounds. In combination, the measurement of these two endpoints thus appeared to be sufficient to accurately predict ocular irritancy. This was further verified with 15 process intermediates. In short, the bovine corneal opacity and permeability assay allows investigation of two important components of eye irritation, in a one-day experiment, using an ocular tissue. It represents a useful approach to assess ocular irritation at least for our needs.

Animals↗
PubMed1985

[Corneal opacity].

A case with bilateral corneal opacification in the form of a half-ring is described. Routine laboratory tests revealed no abnormalities, and serum lipoprotein composition was normal. The authors suspect that this was a case of primary lipoidal keratopathy.

Adult↗
PubMed1987

[Congenital corneal opacity caused by thickening of Bowman's membrane].

Congenital corneal opacifications are rare, yet their causes are manifold. Only a few cases have been described in which the most striking histopathological feature is a thickening of Bowman's membrane. The authors found an isolated thickening of this membrane in the corneas of a baby who, shortly after birth, presented with corneal opacifications in both eyes. Only a few months after penetrating keratoplasty was performed the condition recurred. Bowman's membrane was found to be thickened in the graft as well.

Child, Preschool↗
PubMed2006

The association between epilation and corneal opacity among eyes with trachomatous trichiasis.

AIM: To examine the association between epilation and corneal opacity (CO) among trichiasis patients presenting for surgery. METHODS: Cross sectional data from the STAR trial were utilised. Patients presenting for trichiasis surgery in Wolayta Zone, Ethiopia, were evaluated for current trichiasis status. Number of inturned lashes, evidence of epilation, level of entropion, trichiasis duration, and CO were collected. The primary outcome was prevalence of CO, stratified by entropion and epilation status. RESULTS: Approximately 10% of eyes with mild entropion had CO, regardless of epilation status. Among eyes with moderate entropion, epilated eyes were less likely to have CO than non-epilated eyes (21% v 34% p = 0.002). The same association was seen in eyes with severe entropion: 43% of epilated eyes while 74% of non-epilated eyes had CO (p<0.0001). Presence of CO increased with age. Adjusted models showed a protective effect of epilation in eyes with moderate or severe entropion (OR: 0.51; 95% CI: 0.32 to 0.83 and OR: 0.24; 95% CI: 0.13 to 0.45, respectively). Among eyes with mild entropion there was no difference in the prevalence of CO comparing eyes that were epilated with those that were not epilated. CONCLUSION: Entropion was the most significant predictor of CO. Cross sectional associations suggest that epilation may not be helpful for eyes with mild entropion, but may offer protection against CO in eyes with moderate to severe entropion. Epilation should not be a substitute for trichiasis surgery, however, as 43% of eyes with severe entropion that were epilated still had CO.

Corneal Opacity↗
PubMed1994

Posterior lenticonus, corneal opacity, glaucoma and preretinal membrane in a young woman.

A case of posterior lenticonus with corneal opacity, glaucoma and preretinal membrane is presented. Gonioscopic findings and slit-lamp examination suggested that angle closure due to a large volume of the lens may have caused high intraocular pressure levels. Also, refractive error, exotropia and bilateral nystagmus were accompanied by posterior lenticonus in this case. Our case demonstrates a rare combination of abnormalities involving various ocular structures.

Adolescent↗
PubMed1991

Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.

We report on 5-year-old girl with essential osteolysis, nephropathy, corneal opacity, and valvular pulmonary stenosis. The patient was initially seen for evaluation of flexion contractures at wrists, elbows, and knees. Radiographic examination showed osteolytic changes primarily involving the hands and feet. She had persistent proteinuria; renal biopsy disclosed focal glomerulosclerosis in 1/3 of glomeruli. Electron microscopic study of skin fibroblast showed dilated and vacuolated rough endoplasmic reticulum. To our knowledge essential osteolysis associated with the aforementioned disorders has not been previously reported.

Child, Preschool↗
PubMed1983

Oval lipid corneal opacities in beagles: VI. Quantitation of excess stromal cholesterol and phospholipid.

We identified and quantitated the following lipids in corneas of normolipemic beagles that had oval corneal opacities: total lipids, cholesterol esters, free cholesterol, total phospholipids, phosphatidyl choline, phosphatidyl ethanolamine, sphingomyelin and total triacylglycerols. All except the total triacylglycerols were significantly higher in the 20 affected corneas than in ten normal age and sex-matched controls (P less than 0.005 for each). Few long-chain unsaturated fatty acids were detected. This lipid analysis and the previously reported natural history, ultrastructure, and histochemistry indicate that these opacities result from a primary disorder of corneal lipid metabolism that closely resembles central crystalline corneal dystrophy in man.

Animals↗
PubMed1994

Corneal opacities in spondyloepiphyseal dysplasia tarda.

Spondyloepiphyseal dysplasia tarda is an inherited skeletal dysplasia involving the spine and epiphyses of long bones with onset in childhood, giving rise to disproportionate short stature and degenerative spine and hip disease. Associated ocular disease is not commonly recognized. We report a patient with spondyloepiphyseal dysplasia tarda and a unique pattern of corneal opacities. Bilateral, irregularly shaped, nodular, deeply posterior opacities confined to the peripheral cornea were noted in this patient. A central stromal granularity was also seen. Minimal visual loss was associated with these findings. An X-linked inheritance pattern is presumed but could not be confirmed.

Aged↗