OBJECTIVETo explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS).

METHODThe clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed.

RESULTThe age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%).

CONCLUSIONJoubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Abnormalities, Multiple ; Cerebellar Diseases ; diagnosis ; physiopathology ; Cerebellum ; abnormalities ; Child ; Eye Abnormalities ; diagnosis ; physiopathology ; Female ; Humans ; Kidney Diseases, Cystic ; diagnosis ; physiopathology ; Male ; Retina ; abnormalities ; physiopathology

Six patients with exfoliation syndrome were seen in our glaucoma clinic. Four patients presented unilateral ocular involvement and the other 2 patients were bilaterally involved. Eight eyes had exfoliation material on the anterior surface of the lens and pupillary border, and 7 eyes exhibited it on the anterior chamber angle. Sampaolesi`s line was detected in 4 eyes. Five patients (6 eyes) of 6 patients (8 eyes) with exfoliation exhbited an elevated intraocular pressure (IOP) exceeding 21 mmHg. Among them, 3 patients (3 eyes) had an extremely high maximum IOP over 47 mmHg, and 2 patients (3 eyes) had a slightly elevated IOP less than 26 mmHg during the follow-up period. Argon laser trabeculoplasty (ALT) was performed twice on each unilateral eye of the 2 patients on whom the inital trabeculectomy failed. However, longterm IOP control after laser treatment was not obtained in either case, which might be due to the extremely high prelaser lOP level, in exoess of 40 mmHg.
Aged ; Anterior Eye Segment/*physiopathology/surgery ; Eye Diseases/diagnosis/*physiopathology/surgery ; Female ; Glaucoma/physiopathology/surgery ; Humans ; Intraocular Pressure ; Korea ; Laser Therapy ; Male ; Middle Aged ; Trabeculectomy

BACKGROUNDDry eye patients suffer from all kinds of symptoms. Sometimes, the clinical signs evaluation does not disclose any obvious difference in routine examination; in vivo confocal microscopy (IVCM) is a powerful tool for ocular surface disease. This study aimed to clarify meibomian gland (MG) alterations in dry eye patients with different symptoms and to compare the findings using IVCM.

METHODSA total of sixty patients were recruited, all subjected to Ocular Surface Disease Index (OSDI) and Salisbury Eye Evaluation Questionnaire (SEEQ), and questionnaires for the assessment of dry eye symptoms before clinical sign examinations were given to the patients. Finally, IVCM was applied to observe MG's structure. Statistical analysis was performed using the t-test, Mann-Whitney U-test and Spearman correlation analysis. The differences were statistically significant when P< 0.05.

RESULTSIn the severe symptom group, OSDI and SEEQ scores were significantly higher (P< 0.05) compared with the mild symptoms group. All other clinical sign examinations had no statistical difference in the two groups (P> 0.05). However, all the IVCM-observed data showed that patients with severe symptoms had more significant fibrosis in MG (acinar unit area 691.87 ± 182.01 μm2 for the severe, 992.17 ± 170.84 μm2 for the mild; P< 0.05) and severer decrease in the size of MG acinar units than those observed in patients with mild symptoms (MG acinar unit density [MGAUD] 70.08 ± 18.78 glands/mm2, MG acinar unit longest diameter [MGALD] 51.50 ± 15.51 μm, MG acinar unit shortest diameter [MGASD] 20.30 ± 11.85 μm for the severe, MGAUD 89.53 ± 39.88 glands/mm2, MGALD 81.57 ± 21.14 μm, MGASD 42.37 ± 14.55 μm for the mild;P< 0.05). Dry eye symptoms were negatively correlated with MG confocal microscopic parameters and positively correlated with conjunctival inflammatory cells and Langerhans cells (P< 0.05).

CONCLUSIONSIVCM application provides a strong support to differentiate dry eye patients with different symptoms: meibomian gland dysfunction (MGD) plays a pivotal role in dry eye aggravation, and using IVCM to observe MG fibrosis, changes in size and density of MG as well as status of inflammation cells can help not only correctly diagnose the type and severity of dry eye, but also possibly prognosticate in routine eye examination in the occurrence of MGD.

Adult ; Aged ; Dry Eye Syndromes ; diagnosis ; physiopathology ; Eyelid Diseases ; diagnosis ; physiopathology ; Female ; Humans ; Male ; Meibomian Glands ; pathology ; physiopathology ; Microscopy, Confocal ; methods ; Middle Aged

Child, Preschool ; Diagnosis, Differential ; Electroencephalography ; Electroretinography ; Eye Movements ; Head Movements ; Humans ; Infant ; Infant, Newborn ; Nystagmus, Pathologic ; diagnosis ; etiology ; physiopathology ; Retinal Diseases ; diagnosis ; physiopathology ; Risk Factors ; Spasms, Infantile ; diagnosis ; etiology ; physiopathology ; Torticollis ; etiology ; physiopathology

Examination of a 36-year-old man with naked visual acuity of 20/20 revealed a floating, conspicuous cyst of Cysticercus cellulosae in the vitreous cavity of the right eye. A vitreous traction band from the vitreous base and the optic disc was connected to the lodging bulb of the cyst. In the superonasal area, an ovoid retinal break surrounded by a white retinal lesion with two elliptical retinal hemorrhages was found, and this seems to be the previous lodging site of the cyst. A pars plana vitrectomy was performed to remove the parasite, and laser photocoagulation was carried out around the retinal break. Four months after the operation, the patient was satisfied with naked visual acuity of 25/20 without any complication in the affected eye.
Adult ; Animals ; Cysticercosis/*diagnosis/physiopathology/surgery ; Cysticercus/*isolation & purification ; Eye Diseases/diagnosis ; Eye Infections, Parasitic/*diagnosis/physiopathology/surgery ; Humans ; Laser Coagulation ; Male ; Retinal Hemorrhage/etiology/surgery ; Retinal Perforations/etiology/surgery ; Visual Acuity ; Vitrectomy ; Vitreous Body/*parasitology/surgery

Retinoblastoma, the most common primary intraocular malignancy of childhood, usually presents in the first three years of life. Atypical presentation of retinoblastoma can masquerade as virtually any ocular or orbital pathology, which may lead to diagnostic dilemmas especially in the presence of other systemic diseases. We report a 20-month-old boy who was diagnosed with coronary aneurysm as a complication of Kawasaki disease, and presented with sudden left eye redness. His mother noticed the presence of white pupillary reflex three months earlier. Atypical acute ocular presentation secondary to Kawasaki disease was initially suspected, but the presence of multiple calcification and mild proptosis on imaging suggested characteristics of advanced retinoblastoma. Histopathological examination of the enucleated eye, which revealed a classical rosette pattern appearance, confirmed the diagnosis. Atypical presentations of retinoblastoma are usually associated with advanced disease. The presence of other systemic conditions further complicates the diagnosis. Early diagnosis is important to reduce the mortality and morbidity.
Coronary Aneurysm ; complications ; diagnosis ; Diagnosis, Differential ; Eye ; diagnostic imaging ; physiopathology ; Eye Diseases ; diagnosis ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; diagnosis ; Retinal Neoplasms ; complications ; diagnosis ; diagnostic imaging ; Retinoblastoma ; complications ; diagnosis ; diagnostic imaging ; Treatment Outcome ; Ultrasonography

Sjogren's syndrome (SS) describes xeropthalmia and xerostomia due to lymphocytic infiltrates of lacrimal and salivary glands. SS may occur alone (primary SS) or in association with several other autoimmune diseases (secondary SS). The clinical features involve a wide variety of organs, including skin, eyes, oral cavity and salivary glands, and systems, including nervous, musculoskeletal, genitourinary and vascular. Sicca symptoms can be found in a number of other disorders including rheumatoid arthritis, systemic lupus erythematosus, scleroderma, primary biliary cirrhosis, and other rheumatic disorders.
Eye Diseases/etiology ; History of Medicine, 20th Cent. ; Human ; Mouth Diseases/etiology ; *Sjogren's Syndrome/complications/diagnosis/history/physiopathology/therapy ; Skin Diseases/etiology ; Sweden

PURPOSE: To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up. METHODS: The medical records of 120 eyes from 60 patients with congenital aniridia were retrospectively reviewed. The prevalence and clinical course of ophthalmic characteristics, systemic disease, refractive errors, and visual acuity were assessed. Prognostic factors for final visual outcomes were analyzed. RESULTS: Aniridic keratopathy developed in 82 (69%) of 119 eyes. Macular hypoplasia was observed in 70 eyes of 35 patients (91%). Cataract was observed in 63 of 120 eyes (53%). Nystagmus was present in 41 patients (68% of 60 patients) at the initial visit but decreased in five patients (8% of 60 patients). Ocular hypertension was detected in 19 eyes (20% of 93 eyes), six (32% of 19 eyes) of which developed secondarily after cataract surgery. The mean changes in spherical equivalent and astigmatism during the follow-up period were -1.10 and 1.53 diopter, respectively. The mean final visual acuity was 1.028 logarithm of minimal angle of resolution. Nystagmus and ocular hypertension were identified as prognostic factors for poor visual outcome. CONCLUSIONS: Identification of nystagmus and ocular hypertension was important to predict final visual outcome. Based on the high rate of secondary ocular hypertension after cataract surgery, careful management is needed.
Adolescent ; Adult ; Aniridia/*diagnosis/physiopathology ; Cataract/diagnosis ; Child ; Child, Preschool ; Corneal Diseases/diagnosis ; Eye Abnormalities/diagnosis ; Eye Diseases/*diagnosis/physiopathology ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Nystagmus, Pathologic/diagnosis ; Ocular Hypertension/diagnosis ; Prognosis ; Retina/abnormalities ; Retrospective Studies ; Visual Acuity/*physiology ; Young Adult

Recently, the association of Th-17 cells or IL-17 with ocular inflammatory diseases such as uveitis, scleritis and dry eye syndrome was discovered. We assessed whether interleukin (IL)-17 was present in the tears of various ocular surface inflammatory diseases and the tear IL-17 concentrations were clinically correlated with various ocular surface inflammatory diseases. We measured concentrations of IL-17 in tears of normal subjects (n = 28) and patients (n = 141) with meibomian gland dysfunction (MGD), dry eye syndrome (DES), Sjogren syndrome (SS), Stevens-Johnson syndrome (SJS), graft-versus-host disease (GVHD), filamentary keratitis, and autoimmune keratitis associated with rheumatoid arthritis or systemic lupus erythematosus. Clinical epitheliopathy scores were based on the surface area of corneal and conjunctival fluorescein staining. The mean concentrations of IL-17 in tears of patients with filamentary keratitis, GVHD, autoimmune keratitis, SS, DES, MGD, SJS were significantly higher in order than that in normal subjects. Tear IL-17 concentration was significantly correlated with clinical epitheilopathy scores in the patients with systemic inflammatory disease, while tear IL-17 was not correlated with clinical severity of the cornea and conjunctiva in the dry eye patients without any systemic inflammatory disease. Tear IL-17 is likely to correlate clinically with corneal disease severity only in the patients with systemic inflammatory disease.
Adult ; Aged ; Dry Eye Syndromes/*metabolism ; Eye Diseases/diagnosis/*metabolism ; Eyelid Diseases/metabolism ; Female ; Graft vs Host Disease/metabolism ; Humans ; Interleukin-17/*analysis ; Keratitis/metabolism ; Male ; Meibomian Glands/physiopathology ; Middle Aged ; Severity of Illness Index ; Sjogren's Syndrome/metabolism ; Stevens-Johnson Syndrome/metabolism ; Tears/metabolism

No abstract available.
Anterior Chamber/drug effects/*pathology ; Eye Diseases/*chemically induced/physiopathology ; Female ; Glucocorticoids/administration & dosage/*adverse effects ; Humans ; Injections, Intraocular ; Lens Implantation, Intraocular ; Middle Aged ; Phacoemulsification/*adverse effects ; Posterior Capsular Rupture, Ocular/*diagnosis/etiology ; Prolapse ; Suppuration/*chemically induced/physiopathology ; Triamcinolone Acetonide/administration & dosage/*adverse effects ; Vitrectomy ; Vitreous Body