Clinical and electrophysiological study of familial cortical myoclonic tremor with epilepsy with fixation-off sensitivity / 中华神经科杂志

Objective:To discuss the clinical and electrophysiological characteristics of familial cortical myoclonic tremor with epilepsy (FCMTE) with fixation-off sensitivity (FOS).Methods:The clinical and electrophysiological characteristics of four patients diagnosed as FCMTE with FOS in the Electroencephalography (EEG) Monitoring Center of Xijing Hospital from May 2016 to December 2017 were studied and followed up.Results:The four patients were all female. The age was ranged from 29 to 67 years. The course was from six to 30 years, and the follow-up time was at least two years. The tremors and jerks occurred to the four patients frequently when the eyes were closed, which prevented their falling a sleep, and three of them had generalized tonic-clonic seizure occasionally. The FOS was monitored in the all four patients, and the photosensitivity occured to the three of them.Conclusions:The fixation-off sensitive trail during EEG monitoring is helpful to find the FCMTE with FOS. It is necessary to determine the potential clinical significance of FOS and photosensitivity coexisting in patients with FCMTE.

Carcinoma epidermoide córneo-conjuntival. Presentación de un caso / Squamous cell, corneal-conjunctival carcinoma of. Case report

RESUMEN Se presentó el caso de un paciente masculino de 60 años, blanco, que fue atendido en la Consulta de Oftalmología, del Hospital "Dr. Mario Muñoz", del municipio de Colón, provincia de Matanzas. Refirió que llevaba aproximadamente 20 días, con sensación de cuerpo extraño en el ojo izquierdo, enrojecimiento, secreción constante, fotofobia y una lesión que le había aumentado de tamaño durante este período; la que se tornaba dolorosa durante el parpadeo. Se decidió realizar este trabajo con el objetivo de mostrar los beneficios obtenidos al concluir el tratamiento aplicado a este tipo de tumor (AU).

ABSTRACT The authors present the case of a white male patient, aged 60 years, who assisted the Consultation of Ophthalmology of the Hospital "Dr. Mario Muñoz", of the municipality of Colon. He referred feeling a foreign body in the left eye for already 20 days, presence of redness, constant secretion, photophobia and a lesion that had grown during that period, painful when blinking. The authors decided to write this article with the objective of showing the benefits obtained with the applied treatment in this kind of tumor (AU).

Erenumab aooe: a milestone for the preventive treatment of migraine

Migraine is a complex neurological condition, which can affect the whole body and can result in many symptoms as nausea, vomiting, photophobia (Increased sensitivity to light), phonobhobia (Increased sensitivity to sound) and osmophobia (Increased sensitivity to smell). Neurological symptoms that include visual disturbances such as blind spots, distorted vision, flashing lights or zigzag patterns. Other common symptoms includes- dizziness, vertigo, tingling sensations in the limbs, an inability to concentrate, confusion, difficulty in speaking, paralysis or loss of consciousness (in very rare cases). These symptoms, often called ‘aura’. Migraine attacks may differ in their frequency, duration and severity, although, normally they last between 4 and 72 hours, and most people are symptom-free between attacks. There are many drugs for the treatment of acute attack of migraine which can be divided into mild, moderate and severe attacks. In mild case NSAIDs like Paracetamol, Ibuprofen are prescribed. In moderate cases Anti-emetics like metoclopramide, domperidone can be prescribe with combinations of NSAIDs or triptans as sumatriptan. In case of severe cases triptans can be prescribed with ergot alkaloids and antiemetics. Following drugs are prescribed for the prophylaxis of migraine as sodium valproate, amitriptyline (Tricyclic antidepressant), propranolol and metoprolol (beta blockers). Erenumab-aooe is a calcitonin gene-related peptide receptor antagonist. It is specifically indicated for the preventative treatment of migraine in adults. Erenumab-aooe is supplied as an injection for subcutaneous use. The recommended dosage is 70 mg injected subcutaneously once monthly. Some patients may benefit from a dosage of 140 mg injected subcutaneously once monthly, which is administered as two consecutive subcutaneous injections of 70 mg each. Erenumab-aooe is a human monoclonal antibody that binds to the calcitonin gene-related peptide (CGRP) receptor and antagonizes CGRP receptor function.

A case of ichthyosis follicularis, atrichia and photophobia syndrome caused by a novel mutation in the MBTPS2 gene / 中华皮肤科杂志

A case of ichthyosis follicularis,alopecia and photophobia syndrome caused by a novel mutation c.1165C＞T in the membrane-bound transcription factor protease site 2 (MBTPS2) gene was firstly reported.The proband presented with dry skin,congenital hairlessness,follicular keratotic papules,photophobia,epilepsy,and mental and motor retardation.Next-generation and Sanger sequencing analysis confirmed that the proband and his mother both had a c.1165C＞T (p.pro389Ser) mutation in exon 9 of the MBTPS2 gene.According to the clinical manifestations of the patient and genetic characteristics of the MBTPS2 gene mutation,the patient was diagnosed with ichthyosis follicularis,alopecia and photophobia syndrome.

Analysis of causative genes of tyrosinemia type Ⅱ in a pedigree / 中华皮肤科杂志

Objective To report a pedigree with tyrosinemia type Ⅱ,and to analyze its causative mutations.Methods Clinical data were obtained from a 10-year-old male proband with tyrosinemia type Ⅱ,and analyzed retrospectively.Blood and urine samples were collected from 19 persons in 3 generations of the pedigree,and the amino acid level was detected in these samples.Genomic DNA was extracted from all of the 19 family members,and mutations in the tyrosine aminotransferase (TAT) gene were detected.Results The patient developed photophobia at 2 months after birth,and the symptom was gradually aggravated after that.At the age of 6 years,ocular pain and photophobia occurred.At the age of 8 years,linear keratotic plaques occurred on his fingertips and soles of both feet,with obvious tenderness.Ophthalmic examination showed no obvious abnormalities in corneal staining or ocular fundus.Skin examination showed multiple linear keratotic plaques on the fingers and soles of both feet.The serum tyrosine level was 825.64 μmol/L,and the level of p-hydroxyphenyllactic acid in urine was 161.4 μmol/L.Genetic testing showed 2 novel mutations,including c.236G ＞ A at position 236 in exon 2 of the TAT gene causing the substitution of glycine by glutamic acid (p.Gly79Glu),and c.1141G ＞ T at position 1141 in exon 10 of the TAT gene leading to the formation of a premature termination codon instead of glutamic acid (p.Glu381*).The proband was the only patient in the family.Some members in the patrilineal family carried the mutation c.1141G ＞ T (p.Glu381*),and some in the maternal family carried the mutation c.236G ＞ A (p.Gly79Glu).Conclusion This is the first case of tyrosinemia type Ⅱ reported in the domestic population,and 2 novel heterozygous mutations were identified in the TAT gene,which may lead to the occurrence of tyrosinemia type Ⅱ in the patient.

A Patient Treated with Small-dose Strong Opioids Experienced Photophobia, Disturbance of Consciousness, and Miosis

Strong opioids are useful for managing cancer pain, and common side effects include nausea, vomiting, drowsiness, and constipation. Opioid overdose is known to cause respiratory depression and disturbance of consciousness. We observed a 79-year-old man with stage IVB hepatocellular carcinoma with metastasis to the rib and cancer-related pain being treated with strong opioids who, in spite of receiving a small dose and start volume, experienced strong nausea, photophobia, disturbance of consciousness, and miosis. Oxycodone was stopped to manage the strong nausea, and morphine was stopped to manage the photophobia. Furthermore, fentanyl patch was stopped to manage the disturbance of consciousness and miosis. He did not experience respiratory depression. Thus, photophobia, disturbance of consciousness, and miosis can appear as side effects even at small doses of strong opioids. The results reveal two important clinical issues: (1) photophobia can arise as a side effect of strong opioids, and (2) if photophobia, miosis, disturbance of consciousness arise in opioid-treated patients, they require careful monitoring.

Aura-like features and photophobia in sightless migraine patients / Características de fenômenos aura-relacionados e da fotofobia em enxaquecosos deficientes visuais

Migraine is a central nervous system disorder frequently expressed with paroxysmal visual dysfunctions. Objective To test the hypothesis that normal visual input is vital for the migrainous aura and photophobia. Method We studied the migraine-related visual disturbances in 8 sightless migraineurs identified among 200 visually impaired subjects. Results The main findings were the visual aura and photophobia disappearance along with blindness development, the oddness of aura – too short, colourful (e.g. blue or fire-like), auditory in nature or different in shape (round forms) – and the lack of photophobia. Conclusion We propose that the aura duration should be accepted as shorter in visually impaired subjects. The changes in aura phenotype observed in our patients may be the result of both cerebral plasticity induced by the visual impairment and/or the lack of visual input per se. Integrity of visual pathways plays a key role in migraine visual aura and photophobia. .

A enxaqueca é doença neurológica frequentemente associada a anormalidades visuais transitórias. Objetivo Testar a hipótese de que a visão normal é importante para o fenótipo da aura e da fonofobia. Método Estudamos 8 enxaquecosos deficientes visuais identificados em uma população de 200 indivíduos com visão subnormal. Resultados Os principais achados foram: o desaparecimento da aura visual e da fotofobia com o início da cegueira; a ocorrência de aura atípica – muito curta, colorida (p. ex. azul ou cor de fogo) auditiva ou diferente na forma (arredondadas); e a ausência de fotofobia. Conclusão Propomos que a duração da aura possa ser admitida como mais curta em pessoas com deficiência visual. As mudanças no fenótipo da aura observadas nos nossos pacientes pode ser o resultado da plasticidade cerebral induzida pela deficiência visual e/ou a deficiência visual em si. A integridade da via visual desempenha um papel crucial na aura enxaquecosa e na fotofobia. .

Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome.

We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three‑year‑old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

Distrofia Retiniana Familiar. Reporte de dos casos / Retinal Dystrophy Family. Report of two cases

La distrofia de conos es un grupo de enfermedades retinianas hereditarias en forma monogenética que siguen los patrones de herencia mendeliana, se caracterizan por baja de agudeza visual por afectación macular, con poca o ninguna repercución en retina periférica y deben diferenciarse de otras patologías como las degenerativas o las tóxicas. Es muy poco frecuente encontrar esta afectación en la consulta, sobre todo en dos miembros de una familia de edades 11 y 13 años de edad respectivamente, que se presentan con baja de agudeza visual con largo tiempo de evolución, sin antecedentes personales ni patológicos de importancia, es por eso que vemos por conveniente la presentación de estos casos clínicos. Se realizó una revisión oftalmológica completa con los exámenes disponibles en Cochabamba entre los cuales no se incluyo Electroretinograma. De acuerdo a las características del cuadro clínico baja de visión, heme-ralopía y fotofobia, y los exámenes realizados, retinografía, campo visual, test de color de FM 100, los cuales se encontraron alterados y, se llega presunción diagnóstica de una presencia de distrofia de conos dominante,con mal pronóstico visual, al no existir actualmente un tratamiento efectivo para evitar la progresión de la enfermedad, y en éstos casos se recomienda ayudas visuales con anteojos y lupas.

The cone dystrophy is a group of hereditary retinal diseases in a single gene that follow Mendelian inheritance patterns are characterized by low visual acuity macula, with little or no repercussion in the peripheral retina and should be distinguished from other pathologies such as degenerative or toxic. It is very rare to find this involvement in the consultation, especially two family members ages 11 and 13 years respectively, presented with low visual acuity with long evolution, no personal or important pathological , that is why we see presenting appropriate clinical cases. We performed a complete ophthalmologic examination with in Cochabamba, including Elec-troretinogram was not included. According to the characteristics of clinical low vision, night blindness and photophobia, and previous tests, fundus, visual field, color test FM 100, which were found altered and will reach a presumptive diagnosis of Duchenne presence of dominant cones, with poor visual prognosis, as there currently an effective treatment to prevent disease progression, and in these cases it is recommended visual aids and magnifying glasses.

<b>A Case of Photophobia Post Cataract Surgery Successfully Treated </b><b>with the Kampo Formulation Ryokeikansoto </b> / 日本東洋医学雑誌

The number of senile eye cataract cases increases year by year. Recent developments in new operation techniques have brought more safety and ease i.e. ultrasonic phacoemulsication and lens replacement. However, some complications of these techniques result in troublesome outcomes. In this paper the authors report a female patient aged 74 years old who suffered from severe photophobia after cataract surgery, which was successfully treated with the Kampo formulation, ryokeikansoto. Such troublesome cases tend to be neglected to in medical journal publications when the background of the complaint is unknown.

Manejo a nivel primario de cuerpo extraño en ojo / Manage in primary care of foreign bodies in the eye

Los cuerpos extraños en ojo es quizás la forma más común de presentación del trauma ocular. En la consulta de emergencias es usual observar traumas oculares de los cuales la mayoría son asociados con cuerpos extraños en cornea o a nivel tarsal. Dada la dificultad de acceso de algunas zonas del país a los servicios especializados en oftalmología, en el Servicio de Emergencias de Valverde Vega nació la necesidad de redactar esta actualización con lo más reciente en manejo de cuerpos extraños, con el fin de brindar la mejor atención a los usuarios con este tipo de patologías. Durante este proceso hemos concluido que el manejo ha variado en relación a la enseñanza básica del médico general en las escuelas de medicina.

Probably the most frequent presentation of ocular trauma is foreign bodies in the eye; it is a usual consultation in the emergency service, and most are associated to foreign bodies in the cornea or at the tarsus. SincetheaccesstoophthalmologicconsultationinCostaRica is limited, the Emergency Service in Valverde Vega needed to update procedures for a correct management of foreign bodies in the eye, in order to give the best attention possible to those pathologies. During this process we concluded that the management of the foreign bodies has evolved from the basic training the physicians had in medical school.

Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment / Síndrome de ictiose folicular, alopécia e fotofobia (IFAP): relato do primeiro caso com acometimento ocular e cutâneo do Brasil e da resposta favorável ao tratamento

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. After three months using systemic retinoid (Acitretina) and posterior amniotic membrane transplantation in the left eye, there was a significant improvement of photophobia, corneal erosions and neuropsychomotor development.

A síndrome de ictiose folicular, alopecia e fotofobia (IFAP) é uma doença rara, com possível modo de herança ligado ao cromossomo X. O paciente apresentou achados oftalmológicos de fotofobia, cicatrizes e erosão corneanas, neovascularização superficial e profunda da córnea e miopia. Foi iniciado uso de lubrificantes e oclusão do ponto lacrimal com discreta melhora da fotofobia. Após uso de retinóide sistêmico (Acitretina) por três meses e posterior transplante de membrana amniótica no olho esquerdo apresentou melhora importante da fotofobia, das erosões corneanas e do desenvolvimento neuropsicomotor.

Ultraviolet A induces the apoptosis of epidermal cells in mice injected with anti-Ro/SAA-postive sera / 中华皮肤科杂志

Objective To investigate the susceptibility ofepidermal cells to ultraviolet A(UVA)-induced apoptosis in dopachrome tautomerase knockout Dct~(-/-) mice versus wildtype C57BL/6J mice.Methods High titer of anti-Ro/SSA-positive sera collected from three patients with SLE and typical cutaneous phntosensitivity were intraperitoneally injected into both Dct~(-/-) and wildtype mice,which were then chronically exposed to UVA irradiation at a single dose of 10 J/cm~2 three times a week for two weeks.Then,UVA-irradiated tail skin was excised from each mouse,embedded with paraffin,cut into 4 to 5-μm sections followed by hematoxylin/eosin staining and terminal deoxynucleotidyl transferase nick end labeling(TUNEL),respectively,for the counting of sunburn cells(SBC) and apoptotie cells.Results After chronic UVA exposure,the number of SBC and TUNEL-positive cells per 100 epithelial cells was significantly higher in serum-injected Dct~(-/-) mice than in serum-injected wildtype mice(14±1.0 vs 7±-0.6,62±2.7 vs 30 ±1.6,both P<0.05).A significant decrease was also observed in the number of SBC (6 ±0.9 per 1 00 epithelial cells)and TUNEL-positive cells (42±2.5 per 100 epithelial cells)in uninjected Dct~(-/-) mice compared with those of serum-injcoted Dct~(-/-) mice(both P<0.05).Conclusions The deficiency of Dct gene increases the susceptibility of epidermal cells to UVA-induced apoptosis under the presence of anti-Ro/SSA antibody,which potentially contributes to the develop-ment of anti-Ro/SSA antibody-mediated photosensitivity in SLE.

Ichthyosis follicularis with atrichia and photophobia syndrome: the first case in China / 中华皮肤科杂志

The patient is an 11-year old boy, who was born with universe alopecia as well as dry and coarse skin. When he was 3 months old, photophobia was noticed, and since then, upper respiratory tract infection had occurred twice a month complicated by frequent diarrhea. He had short stature with slight conjunc- rival congestion, corneal vascularization, opacity, coarseness and poor vision. No abnormality was found in the teeth, sweating ability, or hearing. He had universal alopecia; his skin was dry and rough with generalized rhombus- or polygon-shaped scaly patches. Particularly thick brown scales were observed on the upper limbs. Moreover, there were spiny follicular papules on the abdomen and axillae, hyperkeratosis of palm and sole, and dystrophic nails. Hyperextensibility of proximal interphalangeal joints of the third, fourth and fifth fingers was noticed. He also suffered from mental retardation, the verbal intelligence quotient being 52, performance intelligence quotient lower than 40, full intelligence quotient lower than 40, but no abnormality was found in the heart, lung, liver or spleen. Histopathology of skin on the abdomen suggested a change characteristic of ichthyosis. Chromosome analysis revealed a karyotype of 46, XY. This is the first diagnosed case of ichthyosis follicularis with atrichia and photophobia syndrome in China.

Evaluation of Clinical Usability and Effects of Photochromic Lenses

PURPOSE: To evaluate stability and effects of photochromic lenses in light-sensitive patients. METHODS: Analyzing 65 patients, this research employed a standardized survey, fundus examination, and slit-lamp biomicroscopy to evaluate the changes in photophobia, tears, asthenopia, and the deterioration of outdoor visual acuity after wearing photochromic lenses for one month. Measurement of visual acuity was performed outdoors at noon on a bright day using Dr. Hahn's standard test chart for 3 m. RESULTS: Photochromic lenses, considerably decreased photophobia, tears, and asthenopia. The "normal" visual acuity of 38 patients was established without photochromic lenses. Re-examination after the lenses had been worn for a specified period of time showed that 29 subjects could discern at least one line higher than their "normal" acuity. CONCLUSIONS: Photochromic lenses reduced photophobia and the disabling effect of bright light such that comfort was increased. Not only did the lenses improve vision, they also enhanced the overall quality of vision.

The Photophobia Incidence, Stereopsis and Suppression in Intermittent Exotropia

Intermittent exotropia is the most common form of strabismus in Korea. Though monocular photophobia is considered as a typical finding in patients with intermittent exotropia, its incidence is still not precisely reported. We consecutively examined 110 patients with intermittent exotropia ages 3~28 years, and monocular photophobia was reported in 72 (65.5%)of them. In statistical study, the occurrence of photophobia has no significant relationship with sex, amount of deviation, distant stereoacuity or presence of suppression.

The Clinical Characteristics of Intermittent Exotropia and Their Relationship

Intermittent exotropia occurs commonly in Korea and its clinical characteristics are relatively well known. We analyzed the clinical characteristics of intermittent exotropia and studied the relationship among them. We examined 229 patients(92 males and 137 females( who first visited three strabismic clinics. The age of onset, frequency, family history and symptoms of intermittent exotropia were examined. The angle and type of deviation were studied and sensory tests were done. The mean age of onset was 32.4 months and frequency ws 39.1% and family history was 8.7%. Photophobia was the most common symptom of intermittent exotropia. The distant angle of deviation was 26.7 prism diopters in average and the near angle was 25.3 prism diopters in average. The most common type of intermittent exotropia was basic type. followed by simulated divergence excess type, convergence insufficiency type, and divergence excess type. In statistical study, there was no significant relationship among clinical characteristics of intermittent exotroia.

Comparison of Color and Contrast Sensitivities Between UVCY(Non-Cyanoptic) and Conventional UV-AB IOLs

The non-cyanoptic, yellow colored posterior chamber intraocular lens (UVCY-IOL, HOYA, Japan) was specially designed to reduce the penetration of ultraviolet (UV) and short wave length visible light(400-500 nm) by adding yellow coloring dye(monomethin) for the pervention of aphakic or pseudophakic cyanopsia, and the obtaining closer color sensitivity and contrast sensitivity to the normal phakic eyes. In this study, we implanted both yellow colored IOLs in 16 eyes and conventional clear UV absorbing IOLs in 12 eyes. They were prospectively followed up for 6 months with questionairs asking subjective symptoms and with contrast s~nsitivity test in order to evaluate the color sensitivity and contrast sensitivity. The subjective symptoms of cyanopsia, photophobia, and glare were signi ficantly reduced in the UVCY-IOL group comparing to the conventional UVAB-IOL group. But in few cases of UVCY-IOL implantation(18.8%) were in episode transiently on xanthopsia with some dim state in early postop periods. The contrast sensitivity pattern of UVCY-IOL group was very similar to that of normal phakic group. The decrement of contrast sensitivity was less in UVCY-IOL group than in conventional UVAB-PCL group. The amount of decreased contrast sensitivity of UVCY-IOL group in scotopic condition was similar to that of conventional UVAB-IOL group. The result of this study suggests that yellow colored IOL is effective in decre asing cyanopsia and photophobia and in improving contrast sensitivity after cataract surgery especially in the early postoperative period. And also we recommend patients would receive UVCY-IOL implantations in both eyes if you have cataract on both eyes.