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PubMed2001

Final report on the safety assessment of trilaurin, triarachidin, tribehenin, tricaprin, tricaprylin, trierucin, triheptanoin, triheptylundecanoin, triisononanoin, triisopalmitin, triisostearin, trilinolein, trimyristin, trioctanoin, triolein, tripalmitin, tripalmitolein, triricinolein, tristearin, triundecanoin, glyceryl triacetyl hydroxystearate, glyceryl triacetyl ricinoleate, and glyceryl stearate diacetate.

Triesters of glycerin and aliphatic acids, known generically as glyceryl triesters and specifically as Trilaurin, etc., are used in cosmetic products as occlusive skin-conditioning agents and/or nonaqueous viscosity-increasing agents. Hundreds of glyceryl triesters are used in a wide variety of cosmetic products at concentrations ranging from a few tenths of a percent to 46%. Glyceryl triesters are also known as triglycerides; ingested triglycerides are metabolized to monoglycerides, free fatty acids, and glycerol, all of which are absorbed in the intestinal mucosa and undergo further metabolism. Dermal absorption of Triolein in mice was nil; the oil remained at the application site. Only slight absorption was seen in guinea pig skin. Tricaprylin and other glyceryl triesters have been shown to increase the skin penetration of drugs. Little or no acute, subchronic, or chronic oral toxicity was seen in animal studies unless levels approached a significant percentage of caloric intake. Subcutaneous injections of Tricaprylin in rats over a period of 5 weeks caused a granulomatous reaction characterized by oil deposits surrounded by macrophages. Dermal application was not associated with significant irritation in rabbit skin. Ocular exposures were, at most, mildly irritating to rabbit eyes. No evidence of sensitization or photosensitization was seen in a guinea pig maximization test. Most of the genotoxicity test systems were negative. Tricaprylin, Trioctanoin, and Triolein have historically been used as vehicles in carcinogenicity testing of other chemicals. In one study, subcutaneous injection of Tricaprylin in newborn mice produced more tumors in lymphoid tissue than were seen in untreated animals, whereas neither subcutaneous or intraperitoneal injection in 4- to 6-week-old female mice produced any tumors in another study. Trioctanoin injected subcutaneously in hamsters produced no tumors. Trioctanoin injected intraperitoneally in pregnant rats was associated with an increase in mammary tumors in the offspring compared to that seen in offspring of untreated animals, but similar studies in pregnant hamsters and rabbits showed no tumors in the offspring. One study of Triolein injected subcutaneously in rats showed no tumors at the injection site. As part of an effort to evaluate vehicles used in carcinogenicity studies, the National Toxicology Program conducted a 2-year carcinogenicity study in rats given Tricaprylin by gavage. This treatment was associated with a statistically significant dose-related increase in pancreatic acinar cell hyperplasia and adenoma, but there were no acinar carcinomas, the incidence of mononuclear leukemia was less, and nephropathy findings were reduced, all compared to corn oil controls. Overall, the study concluded that Tricaprylin did not offer significant advantages over corn oil as vehicles in carcinogenicity studies. Trilaurin was found to inhibit the formation of neoplasms initiated by dimethylbenzanthracene (DMBA) and promoted by croton oil. Tricaprylin was not teratogenic in mice or rats, but some reproductive effects were seen in rabbits. A low level of fetal eye abnormalities and a small percentage of abnormal sperm were reported in mice injected with Trioctanoin as a vehicle control. Clinical tests of Trilaurin at 36.3% in a commercial product applied to the skin produced no irritation reactions. Trilaurin, Tristearin, and Tribehenin at 40%, 1.68%, and 0.38%, respectively, in commercial products were also negative in repeated-insult patch tests. Tristearin at 0.32% in a commercial product induced transient, mild to moderate, ocular irritation after instillation into the eyes of human subjects. Based on the enhancement of penetration of other chemicals by skin treatment with glyceryl triesters, it is recommended that care be exercised in using them in cosmetic products. On the basis of the available data, the following 23 glyceryl triesters are considered safe as used in cosmetics: Trilaurin, Triarachidin, Tribehenin, Tricaprin, Tricaprylin, Trierucin, Triheptanoin, Triheptylundecanoin, Triisononanoin, Triisopalmitin, Triisostearin, Trilinolein, Trimyristin, Trioctanoin, Triolein, Tripalmitin, Tripalmitolein, Triricinolein, Tristearin, Triundecanoin, Glyceryl Triacetyl Hydroxystearate, Glyceryl Triacetyl Ricinoleate, and Glyceryl Stearate Diacetate. Some of these are not currently in use, but would be considered safe if used at concentrations similar to those glyceryl triesters that are in use as cosmetic ingredients.

Animals↗

PubMed1979

Rationale for a program in community ophthalmology.

The high incidence of eye abnormalities among blacks, coupled with the relative unavailability of ophthalmic services, has resulted in excessive rates of blindness otherwise preventable or curable. As a consequence, incidence rates for blindness are higher for the black population than the white population.Statistics show that black children requiring eyeglasses are less likely to receive eyeglasses than similar age-matched white children. In virtually every state surveyed, blacks were more frequently and severely afflicted with eye diseases and were less likely to receive treatment than whites. Yet, no programs exist in any state specifically targeted to promote eye care among blacks and reverse the ever-worsening trend. Additional data characterizing the scope of the problem shall be presented.An initial strategy for approaching the problem, namely, community ophthalmology, has been developed. Community ophthalmology represents a new discipline promoting eye health and blindness prevention through programs utilizing methodologies of public health, community medicine, and ophthalmology. Basically, the use of community ophthalmology strategies is critical to positive out-come, when given a population composed of blacks and other minorities who are chronically underserved with regard to all sectors of health.The evolution and rationale for these concepts are discussed from national, as well as international, perspectives.

Adolescent↗

PubMed1979

Mydriatic effect of anticholinergic drugs used during reversal of nondepolarizing muscle relaxants.

Large doses of anticholinergic drugs (atropine, glycopyrrolate) produced mydriasis in a group of adults with no eye abnormalities except strabismus, though the usual intramuscular and intravenous doses of these drugs do not have this tendency. Such large doses are often given intravenously during general anesthesia to prevent the side effects of neostigmine methylsulfate, which is used to reverse the effect of nondepolarizing muscle relaxants. Neostigmine methylsulfate (Prostigmin) reduced the mydriatic effect when given intravenously in conjunction with atropine or glycopyrrolate. Mydriasis was more likely to occur in lightly pigmented eyes than in eyes with dark irides. Pilocarpine eyedrops instilled at the beginning of anesthesia caused miosis that persisted after the large intravenous doses of atropine or glycopyrrolate were given. To prevent an attack of acute angle-closure glaucoma in any patient who is to receive large doses of anticholinergic drugs during general anesthesia, miotic drug therapy should be continued before, during, and after anesthesia at the same frequency as when awake.

Adolescent↗

PubMed1996

Extra-articular features of benign joint hypermobility syndrome.

To define the phenotype of patients with benign joint hypermobility syndrome (BJHS), we studied 58 consecutive patients (mean age 37 yr) presenting to a rheumatology clinic and 30 controls. Patients underwent rheumatological and ophthalmic examination, hypermobility scoring, echocardiography, measurement of bone mineral density (BMD), and skin thickness, elasticity and light transmissibility. The median hypermobility score was 5/9 Beighton and 31/56 Contompasis. Eighteen (31%) patients complained of significant arthralgia. Six (10%) patients and two (7%) controls had mitral valve prolapse (MVP) (chi(2) = 0.27, P = NS). Neither MVP nor aortic diameters showed a correlation with hypermobility score. There was no significant reduction in BMD. There was a significant correlation between hypermobility and light transmissibility of the skin (r = 0.71, P < 0.0001 Contompasis; r = 0.47, P < 0.05 Beighton) and skin stretchiness (r = 0.49, P < 0.05 Contompasis; r = 0.39, P < 0.05 Beighton). On ophthalmic examination, 14 (41%) patients had upper eyelid laxity. Thus, patients with BJHS do not have an increased prevalence of significant cardiac, bone, skin or eye abnormalities, helping differentiate BJHS from other more serious hereditary disorders of connective tissue.

Adolescent↗

PubMed2001

Posterior fossa and arterial abnormalities in patients with facial capillary haemangioma: presumed incomplete phenotypic expression of PHACES syndrome.

We report on the neuroradiological studies performed on three infants with capillary haemangioma (CH) of the head and neck with associated posterior fossa and arterial abnormalities. Posterior fossa malformations were represented by cerebellar hemispheric and vermian hypoplasia and cerebellar cortical dysgenesis, whereas arterial anomalies included bilateral agenesis, kinking, and looping of the internal carotid arteries. One patient had marked exophthalmos due to intraorbital CH. We suggest that these patients had an incomplete phenotypic expression of PHACES syndrome, a vascular phakomatosis characterised by the variable association of posterior fossa malformations, CH, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal and medioventral defects. Evidence suggests that PHACES syndrome is not a random association but a true phakomatosis; further studies are awaited to shed light on a possible genetic background. The phenotypic spectrum is broad and still largely unexplored, and precise diagnostic criteria have not yet been identified. A causal teratogenic influence, possibly related to anomalous expression of vascular growth factors and their modulators, is suggested to occur between gestational weeks 3 and 5.5

Brain↗

PubMed2006

Autosomal dominant Alport's syndrome: study of a large Tunisian family.

Alport's syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport's syndrome is often associated with sensorineural deafness and/or ocular abnormalities. In contrast with the well-known X-linked phenotype, very little is known about the autosomal dominant form caused by mutations in COL4A3 and COL4A4 in the chromosome region 2q35-q37. We describe a Tunisian family with autosomal dominant Alport's syndrome in which males and females were equally affected. Two members reached ESRD at age 40 and 53 years, respectively. Three members experienced isolated microhematuria and one member experienced sensorineural deafness. No eye abnormalities were observed. Immunohistochemical studies showed a normal distribution of the alpha5 (type IV collagen) chain in the epidermal basement membrane. Genetic analysis demonstrated that a common haplotype co-segregated with the disease in the heterozygous state in all affected patients, thereby, confirming an autosomal dominant mode of inheritance. The same haplotype was observed in two asymptomatic children. We conclude that autosomal dominant Alport's syndrome, follows a rare mode of inheritance and exhibits a milder phenotype than usually observed in classic X-linked Alport's syndrome. The frequency of this mode of inheritance should be confirmed by a larger study.

Adolescent↗

PubMed1991

[Subclinical eye movements as an indicator for inheritance of congenital nystagmus and central nervous system disease].

Clinically unaffected relatives of families with a history of either inherited congenital nystagmus or inherited neurogenic muscular and cerebellar atrophy underwent electrooculographic examination under three distinct test conditions. We found an increase in the number of square wave jerks, a higher than normal intensity score (defined in terms of frequency X amplitude of an involuntary saccade, unit: o/s) and nystagmus as compared with 110 normal individuals ranging in age from 21 to 89 years. These findings suggest a possible autosomal dominant mode of inheritance in the case study of congenital nystagmus presented. The results show abnormal eye movements in some family members from a family with inherited cerebellar degeneration with acquired nystagmus, suggesting that these family members are affected with the disorder. This study documents the rarely described observation of a connection between inherited cerebellar degeneration with inherited distal neurogenic muscular atrophy.

Adult↗

PubMed1999

Hemifacial spasm or subcortical epilepsy?

A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous.

Adolescent↗

PubMed2004

Degree of tectal beaking correlates to the presence of nystagmus in children with Chiari II malformation.

INTRODUCTION: Tectal beaking is a common finding in children born with a myelomeningocele. Quantitation of the presence or absence of this finding correlated with normal or abnormal eye movements is lacking in the medical literature. MATERIALS AND METHODS: We prospectively evaluated 50 children in our multidisciplinary spina bifida clinic. Each child was observed for the presence or absence of nystagmus at rest or with extraocular movement. Grades of nystagmus and severity of tectal beaking (Types I-III) on MRI were then correlated. RESULTS: Overwhelmingly, children with greater dysmorphology of the mesencephalic tectum were most likely to have nystagmus. Higher grades of nystagmus were associated with Type III tectal beaking. CONCLUSIONS: We have demonstrated that there is a correlation between the presence and severity of nystagmus and the severity of tectal beaking and have quantified this association in patients with the Chiari II malformation. This information may act as a guide in predicting which children with the Chiari II malformation will have significant nystagmus. These data may aid the clinician in the interpretation of oculomotor abnormalities in this cohort of patients.

Adolescent↗

PubMed2001

The sensitivity and specificity of scanning laser polarimetry in the detection of glaucoma in a clinical setting.

OBJECTIVE: A study was conducted to determine the sensitivity and specificity of masked experts in classifying results obtained from normal eyes, glaucomatous eyes, and eyes suspicious for glaucoma using the Nerve Fiber Analyzer GDx (Laser Diagnostic Technologies, San Diego, CA), a scanning polarimeter. DESIGN: Retrospective consecutive case series. METHODS: Consecutive subjects seen in a glaucoma clinic were imaged with the GDX: The masked printouts were distributed to nine experienced users of the machine, who were asked to classify the scan from each eye as normal, suspicious for glaucoma, or consistent with glaucoma. No specific guidelines for interpretation were used. The interpretations were compared with the known diagnoses obtained from review of the subjects' medical records. The number of correct diagnoses, false-positive answers (specificity), and false-negative answers (sensitivity) were noted for each observer and averaged for all nine. Interobserver agreement was calculated by use of the kappa statistic. MAIN OUTCOME MEASURES: False-positive and false-negative responses from reviewers' assessments compared with known diagnoses from chart review. RESULTS: A total of 104 eyes was included: 29 normal eyes, 33 eyes from glaucoma suspects, and 42 eyes with glaucoma. Interobserver agreement was moderate for normals (kappa = 0.42, P = 0.00) and glaucoma (kappa = 0.48, P = 0.00), but slight for glaucoma suspects (kappa = 0.09, P = 0.00). Overall, the average sensitivity was 74% and the specificity was 74%. If only considering whether or not the scan represented glaucoma (i.e., reviewer assessment of "suspect" meant "not glaucoma"), the average sensitivity was 86% and the specificity 83%. If only considering whether a scan was normal or not (i.e., reviewer assessment of "suspect" meant "abnormal"), the sensitivity was 83% and the specificity 86%. Eliminating glaucoma suspects (but allowing the assessment of "suspect") increased overall sensitivity to 80% and specificity to 79%. With suspects eliminated, sensitivity was 80% and specificity 91% for determination of glaucoma, and sensitivity was 93% and specificity 79% for determination of abnormality. CONCLUSIONS: Scanning laser polarimetry may have good sensitivity and specificity for separating normal from abnormal eyes, but it is not as good for classifying unknown subjects when glaucoma suspects are included. Evaluation of new parameters and continued clinical experience may help develop guidelines for interpretation and/or specific indicators for glaucomatous damage to increase the sensitivity and specificity.

Diagnostic Techniques, Ophthalmological↗

PubMed2003

The eye as a window to inborn errors of metabolism.

Ocular manifestations in inborn errors of metabolism occur in many diseases and may be associated with any part of all eye components. In a minority of diseases it is possible to attribute the eye symptoms to a single hereditary pathogenetic mechanism. More often the aetiological relationship of the ocular defects to the metabolic disease is unknown. Diverse pathogenetic mechanisms may act via a common pathological pathway inducing ocular damage. The occurrence of eye abnormalities in metabolic disorders suggests that they are associated with direct toxic actions, errors of synthetic pathways or deficient energy metabolism. In this review, metabolic disorders with major abnormalities in the cornea, lens, retina and optic nerve are presented. In all cases, an appropriate combined approach by the ophthalmologist, paediatrician/neurologist, geneticist and clinical biochemist is the only way to diagnostic success.

Animals↗

PubMed2003

[Clinical characteristics of alternating hemiplegia of childhood in 13 patients].

OBJECTIVE: To summarize the clinical characteristics of alternating hemiplegia of childhood (AHC). METHODS: The clinical data of 13 children with AHC were analyzed. Cranial MRI, EEG, analysis of serum amino acids and urinary organic acids, measurement of plasma lactate and pyruvate levels were done in all patients. Other laboratory examinations such as magnetic resonance angio-imaging (MRA), digital subtraction arteriography (DSA) and Video-EEG were also performed in some patients. RESULTS: Of the 13 patients, 12 were male, and 1 was female. The age of onset was from 2 days to 55 months (average 13.1 months). The initial symptoms were abnormal ocular movements (AOMs) consisting of ocular deviation, gaze or nystagmus in 2 cases, AOMs and dystonic posturing in 9 cases, hemiplegia in 2 cases. All patients had recurrent alternating hemiplegic episodes. The hemiplegic attacks lasted from a few minutes to 10 days. The occurrence of the attacks ranged from 8 times daily to one time every 2 months. In 10 patients the abnormal eye movements or dystonic posturing, at times, recurred intermittently during the hemiplegic attack. Choreoathetosis was present in 2 cases. Ataxia was present in 1 case; 7 patients also had the episodes of quadriplegia. During the episodes of quadriplegia, dysarthria or aphasia was present in 4 cases, dyspnea and dysphagia was present in 2 cases, respectively. Sleep could relieve both weakness and associated paroxysmal symptoms. Mental retardation was present in 9 cases, seizures in 3 cases. Except for EEG or Video-EEG was abnormal in 3 patients, other laboratory investigations were normal in all patients. Twelve patients received flunarizine therapy. Flunarizine reduced the severity, duration, or frequency of hemiplegic attacks in 8 patients. CONCLUSION: The results suggest that AHC is characterized by frequent episodes of alternating hemiplegia with extrapyramidal symptoms and mental retardation, flunarizine is effective in treating some AHC patients.

Anticonvulsants↗

PubMed2006

Unilateral reverse ocular bobbing caused by tuberous sclerosis.

A female aged 12 months with developmental delay and left-sided reverse ocular bobbing (rapid deviation of the eye upward and a slow return to the horizontal position) was observed. At birth, an upper left gingival mass, pathologically diagnosed as a benign granular cell tumour, was removed. On computed tomography (CT), left middle cerebral pedincular and midpontine lesions were seen. Magnetic resonance imaging revealed additional white matter hamartomas, corticosubcortical tubers, and subependymal nodules. The patient was re-examined at 36 months. Her general developmental quotient was equivalent to 23 months of age. Third cranial nerve functions and auditory brainstem response were normal. Her abnormal eye movements were still present. Reverse bobbing is usually observed in patients who are unconscious and who have significant pontine pathology and disruption of the reticular formation. This case is the first tuberous sclerosis-related ocular bobbing case to our knowledge and is interesting as the causative lesion was relatively mild, and ocular horizontal movements were preserved.

Brain Stem↗

PubMed2003

Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes.

Classic lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations in the transglutaminase 1 gene. Pseudoainhum is characterized by the appearance of a constricting band around a digit which may lead to spontaneous amputation. We describe a 41-year-old man with classic lamellar ichthyosis with unusual eye changes and pseudoainhum of both the fifth and the third right toes. Eye abnormalities included bilateral ectropion of the lower eyelids, chronic blepharitis, and nuclear cataract. A radiometric assay revealed greatly reduced skin transglutaminase activity. To the best of our knowledge, this report is unique as classic lamellar ichthyosis with deficient transglutaminase activity has never been associated with pseudoainhum of the toes and the early development of nuclear cataract.

Adult↗

PubMed1980

[Joubert syndrome. Report of a new case and review of literature (author's transl)].

A two-month old male with episodic hyperpnea, facial hemispasms, abnormal eye movements and mental retardation is presented. Pneumoencephalography and C.T. showed an occipital encephalocele and partial defects of the cerebellar vermis. The case agrees with the few cases reported like Joubert syndrom" At present he is three years old. Episodic hyperpnea and facial hemispasms have disappeared but his motor and mental development is obviously retarded.

Abnormalities, Multiple↗

PubMed2004

Joubert syndrome: long-term follow-up.

Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from ophthalmology, neurology, and genetic databases covering a 15-year period at Great Ormond Street Hospital, London. Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died. Scans and notes were available for 22 patients, and 18 cases were clinically reviewed. The median age was 10 years 10 months (range 3mo to 19y) and the median follow-up was 8 years 5 months (range 3mo to 19y, with one new patient seen at 3mo of age). Cerebellar vermis hypoplasia/aplasia with 'molar tooth sign' in the axial plane was present in 22 of 22 patients, coloboma in 6 of 22, and polydactyly in 6 of 22. In the 18 clinically reviewed, apnoea occurred in 13 patients. Five had renal problems with cysts and 4 of 5 had abnormal electroretinograms (ERGs). Visual electrophysiology was abnormal in 14 of 18 patients, and in 6 there was evidence of deterioration in the ERG. Blood investigations of organic acids, phytanic acid, very-long-chain fatty acid, and transferrin were normal in 12 patients tested. Developmental assessment showed that 6 of 15 patients aged more than 5 years were at mainstream school, and 12 of 18 had started walking between 22 months and 10 years. Speech difficulties and behavioural problems were prominent.

Achilles Tendon↗

PubMedDate not supplied

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child.

We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy. Infantile spasms were seen in the second year of life. Arrest of psychomotor development and blindness were noticed early in childhood. Serial magnetic resonance imaging revealed progressive infratentorial atrophy with association of cortical atrophy and corpus callosum hypoplasia. This is an additional case of PEHO syndrome, to our knowledge the first such case from Turkey.

Abnormalities, Multiple↗

PubMed2000

Joubert syndrome: an affected female with bilateral colobomata.

Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.

Abnormalities, Multiple↗