Custom Iris Prosthesis for Subtotal Traumatic Aniridia From Combat Ocular Trauma.

Traumatic aniridia from combat ocular trauma can cause visual disability. A 41-year-old male Army Veteran was referred for evaluation of light sensitivity and glare secondary to subtotal traumatic aniridia of his left eye from an improvised explosive device blast. A custom-made artificial iris prosthesis was implanted in the ciliary sulcus and secured using Gore-Tex sutures. After surgery, the patient reported improvement of his light sensitivity and quality of life. The custom iris prosthesis is a surgical option for visual disability resulting from traumatic aniridia from combat ocular trauma.

Keratoconus in two siblings with congenital distichiasis.

PURPOSE: To describe a previously unreported association of keratoconus in congenital distichiasis. METHODS: Observational case series of ocular findings in 2 siblings with congenital distichiasis. RESULTS: A 17-year-old male presented with tearing and photophobia in both eyes. His parents revealed that he was photophobic since birth. He had a lid surgery previously in both eyes. Clinical examination revealed a central scar with Descemet membrane tear suggestive of healed hydrops in the right eye. The left eye showed topographic features of keratoconus. His younger sibling, a 14-year-old female, also had similar symptoms of photophobia and tearing since birth. She had undergone electrolysis in both eyes. At the present visit, she had an epithelial defect with congestion in the right eye. Electrolysis of the distichiatic eyelashes was performed along with bandage contact lens application, which relieved her symptoms. Her topography revealed subclinical keratoconus in both eyes. The siblings' father also had complaints of photophobia since birth and had lid surgery and electrolysis in the second decade of his life. CONCLUSIONS: Patients with congenital distichiasis may have associated keratoconus. Chronic ocular irritation and subsequent eye rubbing in distichiasis could be the risk factor for keratoconus.

How Are Sicca Signs and Symptoms Associated With Depression Among Men Classified With and Without Sjögren Disease?

PURPOSE: Sjögren disease (SjD) cohorts represent rich resources to study associations between dry eye/mouth (sicca) signs/symptoms and depression. Because SjD affects mainly women, little is known about men with sicca signs/symptoms and associations with depression. The Sjögren's International Collaborative Clinical Alliance contained many men allowing for studying associations between sicca signs/symptoms and depression. We hypothesized that sicca symptoms would be positively associated with depression in males. DESIGN: Cross-sectional study. METHODS: At baseline, participants completed questionnaires and underwent ocular and oral examinations. Depression was assessed using the Patient Health Questionnaire-9. Logistic regression models were used to identify associations between depression and SjD diagnostic criteria and sicca symptoms. RESULTS: Of 309 males, 98 were classified as SjD, whereas 198 were classified as non-SjD. We found that having a labial salivary gland biopsy with focus score ≥1 foci/mm2 was associated with a lower odds of being classified as depressed (odds ratio [OR]: 0.36, 95% CI: 0.18-0.73, P = .01). Having positive anti-Sjögren syndrome antigen A antibody was associated with lower odds of being classified as depressed (OR: 0.44, 95% CI: 0.23-0.88, P = .02). Higher odds of depression were found with ocular burning (OR: 3.16, 95% CI: 1.74-5.73, P < .001), light sensitivity (OR: 2.59, 95% CI: 1.48-4.55, P = .001), and complaints of dry mouth (OR: 4.58, 95% CI: 1.54-13.63, P = .006). CONCLUSION: Ophthalmologists should be specific when inquiring about ocular discomfort (focusing on burning and light sensitivity) and consider querying about depression and/or providing mental health resources to those who endorse such qualities.

Photophobia in headache disorders: characteristics and potential mechanisms.

Photophobia is present in multiple types of headache disorders. The coexistence of photophobia and headache suggested the potential reciprocal interactions between visual and pain pathways. In this review, we summarized the photophobic characteristics in different types of headache disorders in the context of the three diagnostic categories of headache disorders: (1) primary headaches: migraine, tension-type headache, and trigeminal autonomic cephalalgias; (2) secondary headaches: headaches attributed to traumatic brain injury, meningitis, non-traumatic subarachnoid hemorrhage and disorder of the eyes; (3) painful cranial neuropathies: trigeminal neuralgia and painful optic neuritis. We then discussed potential mechanisms for the coexistence of photophobia and headache. In conclusion, the characteristics of photophobia are different among these headache disorders. The coexistence of photophobia and headache is associated with the interactions between visual and pain pathway at retina, midbrain, thalamus, hypothalamus and visual cortex. The communication between these pathways may depend on calcitonin gene-related peptide and pituitary cyclase-activating polypeptide transmission. Moreover, cortical spreading depression, an upstream trigger of headache, also plays an important role in photophobia by increased nociceptive input to the thalamus.

Pain Following Endoscopic Foreheadplasty Surgery in Women.

BACKGROUND: Endoscopic foreheadplasty surgery (EFS) is a common procedure; however, little has been reported about the nature or treatment of postoperative headache pain and associated symptoms. OBJECTIVES: The objective of this study was to describe the intensity, quality, location, and duration of headache pain in women following EFS. We also compared post-EFS symptoms with migraine, described medication use and efficacy, and measured emotional and functional outcomes. METHODS: This descriptive study used an observational repeated-measures design. Forty-two women (mean [standard deviation] age, 59.0 [7.9] years) undergoing EFS were prospectively recruited from 12 private cosmetic practices in 3 California counties. Telephone interviews with the Acute Short-Form 12v2 and the Headache Pain Questionnaire were conducted on postoperative days (POD) 1, 3, 7, and 30. RESULTS: On POD 1, 93% reported at least moderate pain and 64% severe pain. Severe pain was characterized as throbbing (71%), sharp (53%), dull (76%), exploding (41%), imploding (53%), continuous (53%), or intermittent (41%) on POD 1. Moderate pain was most frequent on POD 3 (21%) compared to POD 1 (19%), 7 (12%) and 30 (12%). Mild pain predominated on POD 3 (40%) and 7 (40%), with 20% remaining on POD 30. The majority (79%) of post-EFS symptoms included light sensitivity and nausea, and therefore met most International Classification of Headache Disorders criteria for migraine. Analgesic use provided inconsistent relief. Functional and emotional status did not return to baseline throughout the 30-day postoperative period. CONCLUSIONS: Immediately following EFS, most women experience moderate to severe headache pain, despite use of medications. Pain persists in many patients for up to 1 month. Headache is associated with migraine symptoms, including light sensitivity and nausea.

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).

Biochemical Modulation and Pathophysiology of Migraine.

BACKGROUND: Migraine is a common disabling neurological disorder where attacks have been recognized to consist of more than headache. The premonitory, headache, and postdromal phases are the various phases of the migraine cycle, where aura can occur before, during, or after the onset of pain. Migraine is also associated with photosensitivity and cranial autonomic symptoms, which includes lacrimation, conjunctival injection, periorbital edema, ptosis, nasal congestion, and rhinorrhoea. This review will present the current understanding of migraine pathophysiology and the relationship to the observed symptoms. EVIDENCE ACQUISITION: The literature was reviewed with specific focus on clinical, neurophysiological, functional imaging, and preclinical studies in migraine including the studies on the role of calcitonin gene-related peptide (CGRP) and pituitary adenylate cyclase activating polypeptide (PACAP). RESULTS: The phases of the migraine cycle have been delineated by several studies. The observations of clinical symptoms help develop hypotheses of the key structures involved and the biochemical and neuronal pathways through which the effects are mediated. Preclinical studies and functional imaging studies have provided evidence for the role of multiple cortical areas, the diencephalon, especially the hypothalamus, and certain brainstem nuclei in the modulation of nociceptive processing, symptoms of the premonitory phase, aura, and photophobia. CGRP and PACAP have been found to be involved in nociceptive modulation and through exploration of CGRP mechanisms, new successful treatments have been developed. CONCLUSIONS: Migraine is a complex neural disorder and is important to understand when seeing patients who present to neuro-ophthalmology, especially with the successful translation from preclinical and clinical research leading to successful advances in migraine management.

Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature.

The IFAP syndrome is a rare X-linked recessive inheritance disorder with defect of the MBTPS2 gene defined by the triad of follicular ichthyosis, alopecia, and photophobia. A total of 40 cases has been reported, but no correlation with Hodgkin lymphoma has been reported yet. A 3.5-year-old boy was diagnosed with IFAP syndrome confirmed by Next Generation Sequencing. He was on regular follow-up when he developed prolonged fever and lymphadenopathy. His lymph node biopsy showed Hodgkin lymphoma with mixed cellularity subtype. This case is the first report on IFAP syndrome associated with malignancy. IFAP syndrome could be a risk factor in developing malignancy.

A presumptive case of Kindler syndrome with a new clinical finding.

Herein we present a 9-year-old boy with a constellation of clinical findings most consistent with Kindler syndrome, and report a new finding, severe corneal ectasia, which resulted in exposure keratitis requiring enucleation.

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

We report a boy, born to healthy first cousin parents, with diffuse hyperpigmentation of the skin and guttate hypomelanotic lesions, photophobia, abnormal hair, developmental delay, and recurrent bronchitis. Skin histology showed pigmentation incontinence with numerous melanophages. Electron microscopy showed a very high number of melanosomes and some degenerating keratinocytes. These features correspond to a rare genodermatosis, the X-linked reticulate pigmentary disorder with systemic manifestations. Skewed X-inactivation patterns were detected in the mother's lymphocytes.

X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.

Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene.

Dry eye syndrome and cataract as ocular manifestations of Crohn's disease.

PURPOSE: Crohn's disease is disorder classified under inflammatory bowel disease. Apart from the classic features of the inflamed bowel, patients may develop widespread systemic manifestations, including ocular changes. The authors present a case of ocular complaints in patient with Crohn's disease. MATERIAL AND METHODS: Case report of 11-year-old girl with Crohn's disease. We perform complete ophthalmologic examination and dry eye syndrome tests. RESULTS: A female patient with symptoms of dry eye syndrome and cataract in the both eyes was reported. CONCLUSIONS: Crohn's disease may be associated with ocular findings, such dry eye syndrome and cataract. Evaluation of the eye should be a routine component in the care of patients with Crohn's disease.

Perioperative care of the patient with nephropathic cystinosis.

Cystinosis is an autosomal recessive disease that results in a defective integral membrane protein responsible for the transport of cystine out of lysosomes. This results in the accumulation of cystine in the lysosomes of almost every tissue, with subsequent formation of damaging crystals. The cystinotic process may affect every system of the body, but is particularly damaging to the kidneys and eyes. We discuss the perioperative care of a cystinotic patient with renal insufficiency, Fanconi's syndrome, and photophobia. Other organ systems affected by the cystinotic process are also discussed, with suggestions for the perioperative management of each. Issues of primary concern during perioperative care include preservation of renal function and maintenance of fluid and electrolyte homeostasis.

Action spectrum for photophobia.

Thresholds for photophobia (light-induced discomfort) were determined at wavelengths from 440 to 640 nm for three subjects. Photophobia was assessed by means of electromyography, which was used to measure subjects' level of squinting. After correction for absorption by macular pigment and the ocular media, subjects' functions displayed a trend of increasing sensitivity with decreasing wavelength. We propose that the corrected function is indicative of increased sensitivity to potential retinal damage by short-wavelength light. It is therefore suggested that photophobia serves a function of biological protection. Results also suggest that photophobia is significantly mitigated by macular pigment in the short wavelengths.

Two siblings with tyrosinaemia type 2.

UNLABELLED: We report on two siblings with tyrosinaemia type 2, a 6-year-old girl and her 3.5-year-old brother with a main complaint of painful palmo-plantar hyperkeratosis. The boy presented also conjunctival injection, photophobia, lacrimation and conjunctivitis. Blood tyrosine levels were increased in both patients, 150.6 and 202.3 micro mol/dl, respectively (reference value: 5.8+/-2.2 micro mol/dl). After 1 month of dietary treatment with low protein, low phenylalanine and tyrosine, tyrosine levels decreased to 37.7 and 65.6 micro mol/dl, respectively; the cutaneous lesions improved in both of them, and conjunctivitis disappeared. CONCLUSION: the association of bilateral ulcero-conjunctivitis with photophobia and palmo-plantar hyperkeratosis since early infancy is the clue to the diagnosis of tyrosinaemia type 2.