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Eyelid disorders [keywords]
- In Vivo Confocal Evaluation of the Ocular Surface Morpho-Functional Unit in Dry Eye. [JOURNAL ARTICLE]
- Optom Vis Sci 2013 May 10.
PURPOSE:To study, by a new, integrated, laser scanning confocal microscopy approach, the ocular surface morpho-functional unit in patients with primary Sjogren syndrome (SSI), non-Sjogren syndrome dry eye (non-SSDE), and meibomian gland disease (MGD).
METHODS:Patients and age- and sex-matched control subjects (N = 60; 15 each) were consecutively enrolled in a prospective case-control study. Laser scanning confocal microscopy was used to obtain simultaneous optical sampling of the ocular surface components: cornea, bulbar and tarsal conjunctiva, MGs, and eyelid margin.
RESULTS:For all superficial epithelia, except eyelid margins, there were reduced cell densities in each group compared with that in controls (p < 0.001). The lowest cell densities were in the SSI group (p < 0.001). Eyelid margin superficial cell density was decreased only in MGD (p < 0.001). Basal epithelial cell density at the corneal apex was increased in both SSI and non-SSDE compared with that in controls (p < 0.01). In the conjunctiva, it was decreased in each group compared with that in controls (p < 0.01). Subbasal dendritic cell density was significantly increased in both SSI and MGD compared with that in controls (p < 0.01). Conjunctival inflammatory cell density and MG inflammation were increased in each group compared with those in controls (p < 0.001), with the highest values in SSI. Subbasal nerve plexi had fewer fibers and higher bead density in each group compared with those in controls (p < 0.001). There was increased tortuosity in both SSI and MGD (p < 0.001). Patients with MGD had the lowest MG acinar density, the largest diameter of acini and acinar orifices, and the highest secretion reflectivity (p < 0.001).
CONCLUSIONS:Laser scanning confocal microscopy can provide an in vivo, noninvasive, high-resolution overview of the ocular surface morpho-funcional unit. This confocal integrated approach may be useful in both research and clinical settings.
- Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. [JOURNAL ARTICLE]
- Neurology 2013 May 1.
OBJECTIVES:Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of the previous studies have been based on single case/family reports or series with few patients. The primary aim of this study was the characterization of a large cohort of patients with the 8344A>G mutation. The secondary aim was revision of the previously published data.
METHODS:Retrospective, database-based study (Nation-wide Italian Collaborative Network of Mitochondrial Diseases) and systematic revision.
RESULTS:Forty-two patients carrying the mutation were identified. The great majority did not have full-blown MERRF syndrome. Myoclonus was present in 1 of 5 patients, whereas myopathic signs and symptoms, generalized seizures, hearing loss, eyelid ptosis, and multiple lipomatosis represented the most common clinical features. Some asymptomatic mutation carriers have also been observed. Myoclonus was more strictly associated with ataxia than generalized seizures in adult 8344A>G subjects. Considering all of the 321 patients so far available, including our dataset and previously published cases, at the mean age of approximately 35 years, the clinical picture was characterized by the following signs/symptoms, in descending order: myoclonus, muscle weakness, ataxia (35%-45% of patients); generalized seizures, hearing loss (25%-34.9%); cognitive impairment, multiple lipomatosis, neuropathy, exercise intolerance (15%-24.9%); and increased creatine kinase levels, ptosis/ophthalmoparesis, optic atrophy, cardiomyopathy, muscle wasting, respiratory impairment, diabetes, muscle pain, tremor, migraine (5%-14.9%).
CONCLUSIONS:Our results showed higher clinical heterogeneity than commonly thought. Moreover, MERRF could be better defined as a myoclonic ataxia rather than a myoclonic epilepsy.
- Conjunctival extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in the fornix: do not overlook conjunctival lymphomas. [Journal Article]
- Clin Ophthalmol 2013.:663-6.
Here we report three cases of conjunctival lymphoma that were initially unnotified or misdiagnosed as other ocular diseases because of the small tumor size, peripheral tumor location (the tumor was hidden in the fornix), and nonspecific symptoms.Three patients diagnosed with conjunctivitis or nasolacrimal duct obstruction were referred to our clinic because they were unresponsive to standard medical treatments. Routine anterior segment examination did not reveal any lesions, but further careful examination with a strong eyelid draw revealed minimally elevated tumors in the peripheral fornix under the lid. Excisional biopsies were performed.Histopathologic and immunohistologic examinations indicated the presence of extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). All patients underwent additional radiation therapy. There was no evidence of recurrence in any patient during the follow-up period.Detection of conjunctival lymphoma can be challenging. If no apparent lesion is present and the patient has nonspecific symptoms, the inner surface of the eyelid should be carefully examined. Elaborate eyelid eversion, with eyeball movement, should be performed to avoid misdiagnosing or overlooking peripheral conjunctival lymphomas.
- Evaluation of cutaneous palpebral anthrax. [JOURNAL ARTICLE]
- Cutan Ocul Toxicol 2013 Apr 8.
Context:Anthrax is a rare disease caused by Bacillus anthracis. Antrax is zoonotic disease and is often encountered in persons engaged in animal husbandry. Cutaneous anthrax is approximately 95% of anthrax in humans. Palbebral involvement is rare.
Objective:In this study, we aimed to evaluate the clinical presentation, diagnosis and treatment of cases with cutaneous palpebral anthrax.
Methods:In this study, the patients diagnosed of cutaneous palpebral anthrax between January 2000 and December 2012, were investigated and evaluated, retrospectively. Cutaneous palpebral anthrax was diagnosed by the presence of typical anthrax lesion and/or observation of gram-positive encapsulated bacilli in gram prepations and/or culture positive of samples taken from lesions. In the cases who were culture-negative and without bacilli in gram-staining, the diagnosis was based on the presence of characteristic clinical presentation with a history of severe scarring formation, swelling, black eschar and positive response to the treatment.
Results:A total of 21 patients with cutaneous palpebral anthrax admitted to the two hospitals between January 2000 and December 2012. Eight patients were male (38.1%) and 13 patients were female (61.9%), and the mean age was 31 ± 21.2 (range 1-82 years). The most common symptoms on admission to the hospital were swelling and redness on the skin. Periorbital lesions were in the right eye in 14 cases and the most common eyelid involvement was seen in upper eyelid with 15 cases. The diagnosis was based on isolation of bacteria in five (23.8%) cases, detection of gram-positive bacilli in direct examination of characteristic lesion material in six (28.5%) cases. Ten (47.7%) cases were diagnosed by the characteristic appearance of the lesion. Malignant pustule was seen in all of our patients and seven cases (33.4%) had malignant edema. In the treatment, penicilin was used for 10 (47.7%) cases, ampicillin-sulbactam for five (23.8%) cases and, ciprofloxacin for three (14.3%) cases. Cicatricial ectropion was observed in 10 (47.7%) patients, lagophthalmos developed in four (19%) patients, and corneal scar in two (9.5%) patients. The distribution of the cases did not differ by the year but showed a density in the months from July to September (62.7%).
Conclusion:Early diagnosis and high dose antibiotic treatment can facilitate the treatment and prevent development of eyelid complications including cicatricial ectropion, corneal scars and palpebral symphysis. Prolonged follow-up is necessary in patients who develop complications and surgical intervention.
- Human facial dysostoses. [Journal Article]
- Clin Genet 2013 Jun; 83(6):499-510.
The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date.
- The popular fix for droopy eyes. When is surgery warranted? [Journal Article]
- Harv Health Lett 2013 Jan; 38(3):6.
- Training and oculoplastics: past, present and future. [Journal Article]
- Orbit 2013 Apr; 32(2):111-6.
To describe the evolution of ophthalmic plastic surgical training since the establishment of an oculoplastic subspecialty.A systematic search and consultation was undertaken, involving various oculoplastic societies and selected members, to better define the previous and currently evolving training paradigms in oculoplastics. The salient events along with variances that exist in programs across the world today are analysed.Oculoplastics emerged as a distillation of expertise from other specialties following World War 2 where a high rate of ophthalmic and oculoplastic trauma had occurred. Following this, learned individuals began aggregating on a regular basis resulting in the formation of dedicated oculoplastic forums, initially in the United States (ASOPRS) and then emerging in Europe (ESOPRS), the UK (BOPSS), South America (SOPANOC), the Far East (APSOPRS), Australia and New Zealand (ANZSOPS), the Middle East and Africa (MEAOPS) and South Africa (SASOPS). More structured and specialist training programmes which were dedicated to clinical and surgical management of adnexal disorders began to develop in parallel. This has resulted in the emergence of specialist adnexal fellowships with regional variation, differences in duration and the opportunity for further subspecialisation.Oculoplastic surgery has evolved as a highly specific and rapidly growing sub-specialty dedicated to eyelid, lacrimal and orbital care. Its ever increasing popularity has been mirrored by progressively more structured and recognised training programmes globally.
- [Diplopia following subcutaneous injections of botulinum toxin for cosmetic or medical use]. [Case Reports, English Abstract, Journal Article]
- Harefuah 2013 Feb; 152(2):98-100, 123, 122.
BotuLinum toxin A (Botox, Allegan) is a potent neurotoxin that blocks the release of acetylcholine at the neuromuscular junction of cholinergic nerves. Botulinum toxin was introduced to clinical medicine in 1980. Since then it has become a major therapeutic drug in many medical sub-specialties and its use for facial rejuvenation has become increasingly popular. Diplopia after botulinum toxin injection for facial rejuvenation is a rare and transient complication which is related to chemodenervation of adjacent muscle groups. We would like to report 3 cases of double vision related to extra-ocular muscle paresis after an injection of botulinum toxin for facial rejuvenation and blepharospasm. In all 3 cases recovery occurred, without any treatment, over 3 to 4 months (apparently from regeneration of inactivated proteins necessary for degranulation of acetylcholine vesicles). The clinicians engaged in botulinum toxin injections for facial rejuvenation or blepharospasm, should be aware of the possible complications, and inform the patients about the risk of developing double vision. The clinicians should take into account and ask about Botox when treating patients complaining of diplopia.
- [Neuro-ophthalmology: the eye as a window to the brain]. [English Abstract, Journal Article]
- Harefuah 2013 Feb; 152(2):66-8, 124.
Neuro-ophthalmology focuses on the diagnosis and treatment of visual disorders related to the neurological system rather than the globe itself. Being a subspecialty of both neurology and ophthalmology, it requires specialized training and expertise in diseases of the eye, brain, nerves and muscles. Commonly encountered pathologies in neuro-ophthalmology include: optic neuropathies (such as optic neuritis and ischemic optic neuropathy), visual field loss (transient, constant, unexplained), transient visual loss, unspecified visual disturbances, diplopia, abnormal eye movements, thyroid eye disease, myasthenia gravis, anisocoria, and eyelid abnormalities. The current issue of "Harefuah" is dedicated to contemporary knowledge in neuro-opthalmology, and spans from studies of neuromyelitis optica (NMO), ischemic optic neuropathies, and optic neuropathies induced by phosphodiesterase inhibitors, to the management of sight-threatening carotid-cavernous fistulas, and more. These studies emphasize the importance of an interdisciplinary treatment team consisting of a neuro-ophthalmologist, a neuro-radiologist, and sometimes, even a neuro-surgeon. Such an approach may prove to be beneficial to the patient, by optimizing follow-up and treatment decisions. This issue emphasizes how a correct and timely diagnosis is of paramount significance in patients with neuro-ophthalmological disorders.