PURPOSE: To report the clinical features and surgical management of aniridic fibrosis syndrome using the type I Boston Keratoprosthesis (KPro). DESIGN: Interventional case series. METHODS: Retrospective chart review of 9 eyes in 9 patients with congenital aniridia that developed aniridic fibrosis syndrome. RESULTS: All patients had clinical diagnosis of congenital ...

Sjogren's syndrome is an autoimmune disease that commonly presents to the ophthalmologist as a dry eye disease. We report an unusual presentation of a case of Sjogren's syndrome. A 33-year-old man presented with lid swelling, pseudomembraneous conjunctivitis with central corneal epithelial defect and history of limb weakness for past 2 ...

PURPOSE: To report a 16-year long-term follow-up of a patient with acute multifocal hemorrhagic retinal vasculitis (Blumenkranz syndrome). A 21-year old male was seen in 1994 with acute multifocal hemorrhagic retinal vasculitis (Blumenkranz syndrome), first in the left eye, and later in the right eye. He was treated with retinal ...

A 27-year-old woman was referred by the neurologist for ophthalmic examination. She had a history of headache, visual loss in her right eye, four-limb paresthesia, and behavioral changes over the previous 10 months. The patient complained of tinnitus and hearing loss for two weeks. The patient was initially diagnosed with ...

The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and ...

CASE REPORT: A twenty three year old woman was diagnosed of a morning glory papillary anomaly, then with normal visual acuity (VA). Nine years later, the VA decreased to 0.4, secondary to a serous macular detachment, confirmed by optical coherence tomography (OCT). After treatment with C2F6 gas injection, positioning, and ...

PURPOSE.: To describe clinical features and visual and therapeutic outcomes in a patient affected by Cogan's syndrome with retinal angiomatosis and cystoid macular edema (CMO). CASE REPORT.: A 46-year-old Caucasian man reported frequent episodes of eye redness and pain, conjunctivitis, xerophthalmia, photophobia, and progressive worsening of visual acuity. Slitlamp examination ...

Purpose: To report a case of antiphospholipid syndrome (APS) following toxoplasma retinochoroiditis. Design: Interventional case report. Method: The patient was a 24-year-old female with an attack of visual loss due to toxoplasma retinochoroiditis concomitant with branch retinal vein occlusion. Retinitis resolved with anti-toxoplasma treatment. However, a recurrent episode of BRVO ...

Introduction: Macular dystrophy is a cause of childhood and adult visual handicap and has been associated with multiple gene defects. Syndromic macular dystrophy is rare and a novel congenital form of syndromic macular dystrophy is presented. The authors report on a consanguineous family in which the 5-year-old female proband presented ...

Purpose: To report three cases of bilateral microbial keratitis in eyes with Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) induced by highly active antiretroviral therapy (HAART) in patients of acquired immune deficiency syndrome (AIDS). Methods: A case series. Results: A detailed clinical examination and systemic review of all the ...

Purpose: To report the effect of a single intravitreal bevacizumab injection on serous retinal detachment (SRD) in Sturge-Weber syndrome (SWS). Design: Interventional case report. Methods: A 15-year-old boy with history of SWS was referred with a complaint of sudden visual loss 2 days before, having choroidal hemangioma accompanied with SRD. ...

BACKGROUND:: Intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy is beneficial in treating choroidal neovascularization from age-related macular degeneration, but few long-term studies have shown its efficacy in choroidal neovascularization from ocular histoplasmosis syndrome. Intravitreal anti-VEGF therapy may be effective in cases of choroidal neovascularization because of ocular histoplasmosis syndrome. METHODS:: ...

Abstract Background: Retinal microvasculature provides a direct means to assess microvascular health in vivo. We examined whether retinal vessel caliber is associated with the presence of metabolic syndrome in Japanese adults in a health screening program. Methods: We examined 1,003 Japanese adults through the health screening program conducted at the ...

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder with an estimated worldwide prevalence of 10-20%. IBS can be associated with severe gastrointestinal symptoms, including abdominal pain, bloating, and altered bowel function. Although the causes of IBS remain undefined, recent research has increasingly suggested roles for gut flora in ...

OBJECTIVE: To review case reports of retinal detachment in women with pre-eclampsia/eclampsia. METHODS: Medline was searched for case reports of retinal detachment associated with pre-eclampsia/eclampsia. Articles written in English, Spanish, or Portuguese and published between 1990 and 2010 were reviewed. RESULTS: A total of 28 cases of retinal detachment were ...

Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report ...

Purpose: To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). Methods: Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single nucleotide insertion in the ...

Abstract Purpose: We report our experience in treating 2 patients of idiopathic retinal vasculitis, aneurysm, and neuroretinitis (IRVAN) syndrome with antitumor necrosis factor agent, infliximab, who showed a very favorable response to treatment. Methods: Two patients with clinical diagnosis of IRVAN syndrome were included in the study. The visual acuity ...

Sturge-Weber syndrome (SWS) belongs to a group of disorders known as the phakomatoses. It is characterized by congenital hamartomatous malformations involving the eye, skin, and central nervous system. Several ocular complications are associated with SWS, including glaucoma. A 66-year-old black man presented with a history of SWS and previously diagnosed ...

An 18-year-old woman was referred with late sequelae of chloroquine-induced Steven-Johnson syndrome. At the time of presentation, the symblepharon was involving the upper lids to almost the whole of the cornea, and part of the lower bulbar conjunctiva with the lower lid bilaterally. Other ocular examinations were not possible due ...

An 8-year-old patient with genetically confirmed chronic infantile neurological cutaneous and articular syndrome was treated with interleukin-1 receptor antagonist, anakinra. She initially presented with recurrent episodes of fever, rash, chronic fatigue, frequent headaches, ocular involvement (corneal infiltrate and papillary edema), and permanent increased biologic inflammatory markers. Following treatment with anakinra, ...

Introduction: Irritable bowel syndrome is a common disorder that is associated with a significant impact on both affected individuals and society. While the pathophysiology of irritable bowel syndrome remains unknown, knowledge regarding the normal and abnormal functions of the gut and its complex interaction with the body's nervous systems continues ...

PURPOSE: The diagnosis of irritable bowel syndrome is symptom based, and colonoscopy is the most direct way to rule out organic colonic diseases. It is controversial on the necessity of colonoscopy for patients with suspected irritable bowel syndrome and lacking alarm features. This study was designed to verify the organic ...

We report a patient with numerous abnormal electrocardiograms (ECGs) in both inpatient and outpatient settings. Our patient both simulated and stimulated her arrhythmias with an ECG rhythm generator and intentional caffeine intoxication. To our knowledge, this is the first report of caffeine overdose for arrhythmogenesis.

Several recent observations have raised the possibility that disturbances in the gut microbiota and/or a low-grade inflammatory state may contribute to symptomatology and the etiology of irritable bowel syndrome (IBS). Consequent on these hypotheses, several therapeutic categories have found their way into the armamentarium of those who care for IBS ...

Abstract objectives: Besides general pathological findings characteristic for Goldenhar's syndrome, we report ocular findings in a 22-week-old fetus with hemifacial microsomia endorsing this diagnosis. methods: After abortion the fetus was examined by a standard paidopathological autopsy including ophthalmopathologic macroscopic and microscopic examination of both eyes.principal results: Post mortem findings included ...

BACKGROUND: Extreme stool forms (1 and 2, or 6 and 7 of the Bristol stool scale) are frequent in patients with irritable bowel syndrome and are associated with colonic transit, but it is not known whether these alterations influence rectal reservoir function. AIMS: To investigate rectal reservoir function by assessing ...

Rather than being a diagnosis of exclusion, irritable bowel syndrome (IBS) is a diagnosis that can be identified by symptom-based criteria. The collection of these criteria by a meticulous history can be enhanced by using various tools. Once a positive diagnosis is made, using clinical criteria for diagnosis, one should ...

Lenalidomide and azacitidine are active in MDS patients, and may complement each other by targeting the bone marrow microenvironment and the malignant clone. A recent Phase I trial testing the lenalidomide and azacitidine combination yielded encouraging results; however, lenalidomide’s contribution was unclear. In this study, 18 higher-risk MDS patients were ...

Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. ...

concurrent toxoplasmosis infection of the brain, spinal cord, and muscle has never been reported together in a patient antemortem. Toxoplasma gondii is the most common focal central nervous system opportunistic infection in the acquired immune deficiency syndrome (AIDS) population. Despite this fact, isolated toxoplasmosis infection in the spinal cord is ...

McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive disorder. Less than one hundred cases have been reported in the English literature to date. We report three different aged children with a large hydrometrocolpos and postaxial polydactyl. These children had various degrees of associated renal disorders. Bardet Biedl syndrome (BBS) is ...

A thick cornea is a constant ocular finding in the mesodermal dysmorphodystrophy (Weill-Marchesani Syndrome). In this study we investigated with confocal microscopy, the corneal structure in vivo in the patient affected by Weill-Marchesani Syndrome (WMS) in an attempt to explain the thickness increment. The corneal study showed in both eyes ...

To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. Case report. A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations ...

We report choroidal findings by means of enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT) in a patient with idiopathic uveal effusion syndrome (IUES). A 41-year-old man was referred to us with ciliochoroidal and non-rhegmatogenous retinal detachments. Sclerectomies and sclerostomies were performed at the equator in the lower quadrants, resulting ...

Recent studies support the hypothesis that postinfectious irritable bowel syndrome and some irritable bowel syndrome patients display persistent signs of minor mucosal inflammation. Mesalazine has intestinal anti-inflammatory properties including cyclooxygenase and prostaglandin inhibition. The effects of mesalazine on postinfectious irritable bowel syndrome and noninfective irritable bowel syndrome patients are still ...

Ichthyosis follicular, alopecia, and photophobia (IFAP) syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, superficial and deep corneal vascularization and myopia. He was treated with artificial tears and punctal occlusion with small improvement of photophobia. ...

To determine anesthetic considerations for patients with de Barsy syndrome, a rare complex whose hallmark findings include cutis laxa, progeria, and multiple orthopedic and ophthalmologic abnormalities. Retrospective chart review. Medical center. A search of Mayo Clinic medical records from 1968 to 2007 identified two patients with de Barsy syndrome who ...

Neuropsychiatric symptoms are common in patients with Alzheimer disease (AD). Treatment for both AD and psychiatric disturbances may affect the clinical observed pattern and comorbidity. The authors aimed to identify whether particular neuropsychiatric syndromes occur in untreated patients with AD, establish the severity of syndromes, and investigate the relationship between ...

Patients with clinical features of MEN 1 without mutations in the menin gene fulfill the criteria of MEN1-like syndrome. Primary hyperparathyroidism (PHP) is the most frequent clinical finding in both syndromes and is usually treated by surgery. However, PHP has been reported to respond to somatostatin analogues (SSA) in MEN ...

To determine whether omega-3 (n-3) increases saliva production in patients with Sjögren's syndrome, 61 patients with Sjögren's received either wheat germ oil (n = 23) or n-3 supplement (TheraTears Nutrition®) (n = 38) in a prospective, randomized, double-masked trial. The outcomes assessed were salivary secretion and markers for oral inflammation. ...

As MRI becomes ever easier to access, it is clear that there is a group of patients, scanned for a wide range of symptoms, where the imaging looks inflammatory, despite the discordance with the clinical presentation. This is the so-called radiologically isolated syndrome, which can be a source of anxiety ...

Studies to assess the hemodynamic status of patients with moyamoya syndrome are often done to determine the need for surgical revascularization. These studies, including transcranial Doppler (TCD) ultrasonography to assess vasomotor reactivity (VMR) to CO(2), are generally considered safe. We describe a patient with moyamoya syndrome who experienced a subarachnoid ...

Tolosa-Hunt syndrome is a steroid responsive painful opthalmoplegia due to a nonspecific inflammation of the cavernous sinus. Autoimmune hemolytic anemia is caused by antibodies directed against unmodified autologous red cells. They are both rare conditions. Here we describe the simultaneous occurrence of Tolosa-Hunt syndrome and severe hemolytic crisis in the ...

A 63-year-old patient with Holmes-Adie syndrome presented an altered peripheral chemoreflex and suffered from high altitude pulmonary edema, suggesting an alteration of sensitive afferent fibers from the peripheral chemoreceptors. Chemo-responsiveness to hypoxia should be explored before any exposure to moderate altitude in Holmes-Adie patients.

The parkinsonian complex of Guam is an endemic neurodegenerative condition, which has been described only in the islands of the Guam archipelago and at the Kii peninsula of Japan. Up to now, only one "sporadic" case has been described (including the autopsy) in Japan. To describe the clinical, laboratory and ...

OBJECTIVE: The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. STUDY DESIGN: Case series. PLACE AND DURATION OF STUDY: The study was conducted over a period of 8 years, ...

Refeeding syndrome describes a pattern of electrolyte disturbances occurring after the reintroduction of nutrition to the malnourished patient; it is often associated with delirium. The authors investigated whether hospitalized elderly patients who develop delirium are more likely to have laboratory findings consistent with refeeding syndrome. The authors conducted a retrospective ...

PHACE syndrome describes a spectrum of anomalies associated with large facial infantile hemangiomas and characterized by posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. With improved recognition and imaging practices of infants with PHACE syndrome, additional associations have been identified. To our ...

Triple A syndrome is named after the main symptoms of alacrima, achalasia, and adrenal insufficiency but also presents with a variety of neurological impairments. To investigate the causes of progressive neurodegeneration, we examined the oxidative status of fibroblast cultures derived from triple A syndrome patients in comparison to control cells. ...