Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and nystagmus in infancy heralds the development of keratitis, corneal vascularization, and lens cataracts. Repeated corneal transplants have failed. Red, periorificial mucosal lesions involving the above structures are noted by 1 year of age and may persist throughout life. Chronic rhinorrhea and repeated upper respiratory infections frequently progress to bilateral pneumonia accompanied by loss of hair, diarrhea, occasional melena, enuresis, pyuria, and hematuria. Spontaneous pneumothorax is frequent, terminating in fibrocystic-type lung disease and cor pulmonale. Women have had repeated abnormal vaginal PAP smears. Histologically the mucosal epithelium shows dyshesion, thinning of the epithelial layer, and dyskeratosis. Mucosal PAP smears show lack of epithelial maturation, cytoplasmic vacuoles and inclusions, and individual cell dyskeratosis. Histochemically there is a lack of cornification and keratinization. Ultrastructural studies show lack of keratohyalin granules, a paucity of desmosomes, intercellular accumulations, cytoplasmic vacuolization, and formation of bands and aggregates of filamentous fibers and structures in the cytoplasm resembling desmosomes and gap junctions. The condition is probably a panepithelial cell defect of desmosomal and gap junction structure most prominently affecting mucosal epithelia associated with an increased susceptibility to a variety of adventitious organisms.
 ...
PMID:Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 48 50

A retrospective study (coauthored with Geraldine Tillson) of 118 patients with the congenital esotropia syndrome is described. All patients were aligned with surgery and, in some cases, glasses as well, within 10 prism diopters of orthotropia before the age of 2 years and had remained so aligned for at least a year. A standardized final examination was performed on patients over the age of 6 years, after at least 5 years' follow up, to study the effect of significant refractive error, amblyopia, nystagmus, dissociated vertical divergence, and inferior oblique overaction on the sensory outcome. None of the patients obtained central fusion. Fifty-three of 118 obtained peripheral fusion with at least 5 delta of fusional amplitude. Twenty-eight of the 53 fusers had stereopsis. The findings did not show any factors to explain why 65 did not obtain fusion. A congenital lack of the potential to develop fusion is postulated. The development of fusion and suppression is discussed with relevant references. Evidence is presented that the anatomical location of the lesion in central fusion disruption is in the midbrain. Fusion may be lost, in visual adults, without developing suppression from prolonged sensory deprivation. Examples include unilateral cataract, uncorrected unilateral aphakia, and unilateral severe herpetic keratitis.
 ...
PMID:18th annual Frank Costenbader Lecture. Fusion and suppression: development and loss. 158 79

Crouzon's syndrome is an autosomal dominant disorder characterized by premature craniosynostosis leading to multiple ocular abnormalities and vision loss. Strabismus, optic atrophy, exposure keratitis, hypertelorism, nystagmus, and unexplained visual loss have been reported. Keratoconus has been described only once previously in a patient with other ocular abnormalities. This article reports bilateral keratoconus in a patient with Crouzon's syndrome without other ocular pathology. We emphasize the importance of early recognition and therapy of this treatable cause of decreased vision in Crouzon's syndrome.
 ...
PMID:Bilateral keratoconus in Crouzon's syndrome. 813 12

A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and tyrosine were 5 to 10 times higher than those of controls. Tyrosinemia II was diagnosed on the low level of cytosol tyrosine aminotransferase in biopsied liver. The cases of tyrosinemia II were reviewed on the symptoms of the central nervous system. Two of twelve cases had convulsions. Adult cases demonstrated nystagmus, tremor, ataxia, and convulsion. Hyperkeratosis and corneal lesions were characteristic in symptoms of tyrosinemia II, but attention should be paid to the symptoms of the central nervous system.
 ...
PMID:[A case of tyrosinemia type II with convulsion and EEG abnormality]. 826 Feb 11

The ophthalmic, neurologic, and neuro-ophthalmic literature over the past year have included a wide variety of interesting case reports, patient series, and reviews involving eye movement abnormalities. This review highlights some of the more important articles and how they contribute to our understanding, diagnosis, and treatment of these disorders. A few topics will receive particular emphasis. In patients with sixth nerve palsies, botulinum toxin injection of the ipsilateral medial rectus muscle has been advocated. Recent results suggest that this treatment has no beneficial effect in acute sixth nerve palsies, but it may have a role in chronic cases. Two groups of authors, each supplying retrobulbar botulinum toxin injection for patients with acquired nystagmus and debilitating oscillopsia, obtained mixed results. One group of patients was moderately satisfied, whereas in the other group, no patients elected to repeat the treatment because of side effects such as ptosis, diplopia, or discomfort from keratitis. Finally, skew deviation is becoming a more recognized cause of vertical double vision from a central or peripheral basis. Articles published recently showed that cyclodeviation may be seen in skew deviation, and that binocular cyclotorsion distinguishes this motility abnormality from a fourth nerve palsy, which exhibits monocular excyclotorsion.
 ...
PMID:Eye movement disorders. 1016 Apr 15

Treatments used for several neurological conditions may adversely affect the eye. Vigabatrin-related retinal toxicity leads to a visual field defect. Optic neuropathy may result from ethambutol and isoniazid, and from radiation therapy. Posterior subcapsular cataract is associated with systemic corticosteroids. Transient refractive error changes may follow treatment with acetazolamide or topiramate, and corneal deposits and keratitis with amandatine. Intraocular pressure can be elevated in susceptible individuals by anticholinergic drugs, including oxybutynin, tolterodine, benzhexol, propantheline, atropine and amitriptyline, and also by systemic corticosteroids and by topiramate. Nystagmus, diplopia and extraocular muscle palsies can occur with antiepileptic drugs, particularly phenytoin and carbamazepine. Ocular neuromyotonia can follow parasellar radiation. Congenital ocular malformations can result from in utero exposure to maternally prescribed sodium valproate, phenytoin and carbamazepine. Neurologists must be aware of potential ocular toxicity of these drugs, and appropriately monitor for potential adverse events.
 ...
PMID:Ocular complications of neurological therapy. 1595 88

We report five children with previously unrecognized vestibular dysfunction detected by clinical examination and confirmed by quantitative vestibular testing. Patient 1 presented with fluctuating visual acuity and intermittent nystagmus. Patient 2 had congenital hearing loss associated with imbalance, delayed motor development, and cyclic vomiting. Patient 3 had neurotrophic keratitis with an intermittent head tilt, imbalance, and motor delays. Patient 4 showed ataxia and eye movement abnormalities following traumatic brain injury and had reading difficulties. Patient 5 had episodic vertigo and eye movement abnormalities from infancy. Clinical vestibular testing emphasized spontaneous nystagmus, rapid head thrust, and assessment of post-rotatory nystagmus. Quantitative vestibular testing included the sinusoidal chair rotation and velocity step tests, measurement of dynamic visual acuity, post-head-shake nystagmus, and computerized platform posturography. Pediatric neurologists encounter children with congenital and compensated vestibular dysfunction, which can be recognized on the basis of relevant history and clinical abnormalities of the ocular-ocular reflex.
 ...
PMID:Congenital and compensated vestibular dysfunction in childhood: an overlooked entity. 1697 Aug 46

Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before. Here we report a Chinese family with these phenotypes and a novel PAX6 mutation. Microphthalmia, late-onset keratitis, iris coloboma, and nystagmus were present in the proband. His son had microphthalmia, aniridia, foveal hypoplasia, and nystagmus. A novel c.649C>T (p.Arg217X) mutation in PAX6 was detected in the proband and his affected son. This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis.
 ...
PMID:Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. 2217 86

Aniridia classically presents with a bilateral congenital absence or malformation of the irides, foveal hypoplasia, and nystagmus, and patients tend to develop visually significant pre-senile cataracts and keratopathy. Additionally, they are at high risk for developing glaucoma. Classic aniridia can be genetically defined as the presence of a PAX6 gene deletion or loss-of-function mutation that results in haploinsufficiency. Variants of aniridia, which include a condition previously referred to as autosomal dominant keratitis, are likely due to PAX6 mutations that lead to partial loss of PAX6 function. Aniridia-associated keratopathy (AAK) is a progressive and potentially debilitating problem affecting aniridic patients. The current treatments for AAK are to replace the limbal stem cells through keratolimbal allograft (KLAL) with or without subsequent keratoplasty for visual rehabilitation, or to implant a Boston type 1 keratoprosthesis. Future therapies for AAK may be aimed at the genetic modification of corneal limbal stem cells.
 ...
PMID:A review of the clinical and genetic aspects of aniridia. 2413 39

Although visual function is thought to be preserved in patients with locked-in syndrome (LIS), enabling them to communicate through vertical or lateral eye movements or blinking of the upper eyelid, nothing is known about the actual visual function of patients with LIS. The goal of this study is to evaluate the visual function of patients with LIS which may enable better evaluation of the state of consciousness of these patients. Patients with LIS seen in a single neurovascular unit of a tertiary center between 1997 and 2013 were retrospectively reviewed. Each patient had a specialized neuro-ophthalmological evaluation under optimal environmental conditions (light, contrast, examination distance, head position, best ergonomic adaptation, and establishment of a means of communication with help from the patient's friends/family). Visual acuity, extraocular eye movements, confrontational visual field, slit lamp and fundus examination were performed. Thirteen patients (6M/7F) were included in this study. Mean visual acuity was 20/60. Oculomotor examination was abnormal in 77%. Forty-six percent of patients presented binocular diplopia mainly related to a VIth nerve palsy. One patient presented complete ophthalmoplegia. Forty-six percent of patients had nystagmus responsible for oscillopsia (oculopalatal tremor). An abnormal visual field was observed in 17% of patients, and abnormal pupillary light response leading to photophobia was present in 22% of patients. Keratitis or dry eye syndrome was present in most patients and was a major cause of pain and visual impairment. Our results suggest that the visual function is impaired in all patients with LIS. This impairment is multifactorial including mostly binocular diplopia or oscillopsia but also refractive errors, dry eye syndrome, keratitis or visual field defect. This altered visual function may alter the ability of the patient to interact with his environment and lead to underestimation of their state of consciousness. An ophthalmologic evaluation would allow for improvement of these patients' comfort, their ability to communicate, and the assessment of their state of consciousness.
...
PMID:Evaluation of the visual function of patients with locked-in syndrome: Report of 13 cases. 2715 1


1