A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other specific symptoms or signs. The use of phenobarbital could relieve the symptoms of jaundice. Multiple examinations showed increased indirect bilirubin levels, and the results of aminotransferases and liver imaging were normal. There was no evidence of hemolysis. The analysis of UGT1A1 gene in her family found that this child had double homozygous mutation of c.211G>A(G71R) and c.1456T>G(Y486D), which had been reported as the pathogenic mutation for Gilbert syndrome. Her parents carried double heterozygous mutation of G71R and Y486D and had no symptom of jaundice. The child was diagnosed as having Gilbert syndrome. It is concluded that as for patients with unconjugated hyperbilirubinemia which cannot be explained by liver damage and hemolysis, their family history should be investigated in detail and gene analysis should be performed as early as possible, in order to identify congenital bilirubin metabolic disorders.
Child, Preschool ; Female ; Gilbert Disease ; diagnosis ; Glucuronosyltransferase ; genetics ; Humans ; Mutation ; Sclera ; pathology ; Skin ; pathology

Here, we present the case of a patient with bilateral choroidal metastases with extraocular extension in one eye. Metastasis of papillary thyroid carcinoma to the uvea is extremely rare, with only 6 patients reported in the literature. A 62-year-old man with a prior history of papillary thyroid carcinoma suffered the rapid loss of vision in his right eye. He had neovascular glaucoma, total retinal detachment, and a solitary choroidal mass. A month later, his left visual acuity also decreased because of a small macular choroidal mass. The right eye was enucleated and a nodular lesion over the sclera representing extraocular extension was observed. This tumor and the intraocular lesion were composed of papillary excrescences and cystic spaces and stained positively for thyroid transcription factor 1 and thyroglobulin, all confirming the diagnosis of metastatic papillary thyroid carcinoma. The tumor in the left eye was successfully treated with diode laser transpupillary thermotherapy. The patient expired within a month as a result of widespread pulmonary metastases. Papillary thyroid carcinoma may metastasize to the uvea bilaterally, cause rapid visual function loss, erode the sclera, and may extend outside the globe similar to choroidal melanoma. This aggressive ocular involvement was associated with a dismal prognosis in our patient.
Carcinoma/*pathology/therapy ; Choroid/*pathology ; Choroid Neoplasms/*secondary/therapy ; Humans ; Hyperthermia, Induced ; Lung Neoplasms/secondary ; Male ; Middle Aged ; Sclera/*pathology ; Thyroid Neoplasms/*pathology/therapy

A 68-year-old woman presented with pain in her left eye. Necrosis with calcium plaques was observed on the medial part of the sclera. Aspergillus fumigatus was isolated from the culture of the necrotic area. On systemic work-up including serum and urine electrophoresis studies, the serum monoclonal protein of immunoglobulin G was detected. The patient was diagnosed with monoclonal gammopathy of undetermined significance and fungal scleritis. Despite intensive treatment with topical and oral antifungal agents, scleral inflammation and ulceration progressed, and scleral perforation and endophthalmitis developed. Debridement, antifungal irrigation, and tectonic scleral grafting were performed. The patient underwent a combined pars plana vitrectomy with an intravitreal injection of an antifungal agent. However, scleral and intraocular inflammation progressed, and the eye was enucleated. Aspergillus fumigatus was isolated from the cultures of the eviscerated materials. Giemsa staining of the excised sclera showed numerous fungal hyphae.
Aged ; Amphotericin B/administration & dosage ; Antifungal Agents/administration & dosage ; *Aspergillosis/therapy ; *Aspergillus fumigatus ; Disease Progression ; Eye Enucleation ; Female ; Humans ; Injections, Intraocular ; Paraproteinemias/*complications ; Sclera/pathology/ultrasonography ; Scleritis/*complications/diagnosis/*microbiology/physiopathology ; Vitrectomy

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.
*Abnormalities, Multiple ; Anterior Eye Segment/*abnormalities ; Child, Preschool ; Eye Abnormalities/*diagnosis/surgery ; Eye Movements ; Female ; Follow-Up Studies ; Humans ; Oculomotor Muscles/*abnormalities/surgery ; Ophthalmologic Surgical Procedures/*adverse effects ; Optic Nerve/abnormalities ; Postoperative Complications ; Sclera/*pathology/surgery ; Syndrome ; Tooth Abnormalities/*genetics

OBJECTIVETo investigate the expression of 5 muscarinic receptor subtypes in the scleral tissue of immature guinea pigs.

METHODSThe scleral tissue was collected from six 2-week-old pigmented guinea pigs to determine mRNA expressions of the muscarinic receptors with RT-PCR. Immunofluorescence was used to observe the protein expressions of the 5 muscarinic receptor subtypes.

RESULTSThe mRNAs of the 5 muscarinic receptor subtypes were all detected in the scleral tissue, and the mRNA expression was the highest for M1 subtype. Green fluorescence of M1 to M5 subtypes surrounding the fibroblast nuclei were found in the scleral matrix using laser confocal microscopy.

CONCLUSIONFive muscarinic receptor subtypes are present in the scleral tissues of immature guinea pigs, indicating the involvement of the muscarinic receptors in eye growth regulation.

Animals ; Female ; Gene Expression Regulation ; Guinea Pigs ; Immunohistochemistry ; Male ; Myopia ; metabolism ; pathology ; RNA, Messenger ; genetics ; metabolism ; Receptors, Muscarinic ; genetics ; metabolism ; Sclera ; cytology ; metabolism

PURPOSE: To evaluate the change of axial length (AL), intraocular pressure (IOP), and corneal astigmatism after scleral shortening with scleral invagination in the rabbit eye. METHODS: The authors performed scleral shortening (3 mm) with scleral invagination in two groups of 6 eyes each: 180 degrees (group 1) and 360 degrees (group 2). RESULTS: Average AL shortening was more prominent in group 2 (0.5 +/- 0.17 mm) than in group 1 (0.37 +/- 0.29 mm), but the difference was not statistically significant. IOP increased immediately after the procedure and was maintained at a high level through 2 months postoperatively. Induced corneal astigmatism was more prominent in group 1 than in group 2. The difference was statistically significant in group 1 (p< 0.05) but not in group 2. CONCLUSIONS: In the scleral shortening with scleral invagination procedure, a large amount of scleral invagination resulted in more shortening of axial length, but there was more corneal astigmatism in 180-degree invagination of the sclera than in 360-degree. Further research is required to determine the effect of the extent of scleral invagination on the change of these values.
Animals ; Astigmatism/*etiology ; Corneal Diseases/*etiology ; Eye/*pathology ; *Intraocular Pressure ; Postoperative Period ; Rabbits ; Sclera/*surgery

Glaucoma is characterized by loss of retinal ganglion cells (RGCs) and their axons. Retrograde axoplasmic transport blockade and excitotoxicity were proposed to be a major cause of RGC apoptosis. We conducted this study to characterize the episcleral vessel cauterization glaucoma model in the rat with respect to decreased retrograde axoplasmic flow and subsequent apoptotic RGC death. After episcleral vessels were cauterized in Sprague-Dawley rats, Fluorogold was injected into their superior colliculi by stereotactic method. Retrograde axoplasmic flow and TUNEL-stained apoptotic dead cells were observed microscopically. Elevated intraocular pressure was maintained for up to 6 weeks during follow-up. Retrograde axoplasmic flow to the rat retina was significantly decreased. Apoptotic RGC was selectively TUNELstained in the retina, especially at the ganglion cell layers. We concluded that elevated intraocular pressure caused apoptotic RGC death through retrograde axoplasmic flow blockage. Further studies will elucidate the neuroprotection strategies in glaucoma patients.
Animals ; *Apoptosis ; Axonal Transport ; Disease Models, Animal ; In Situ Nick-End Labeling ; *Intraocular Pressure ; Male ; Ocular Hypertension/*complications ; Rats ; Rats, Sprague-Dawley ; Retinal Ganglion Cells/*pathology ; Retrograde Degeneration/etiology ; Sclera/blood supply

BACKGROUNDPax-6 gene plays an important role in the process of eye development. This study was to determine the role of pax-6 in the axial myopia produced by hyperopic optical defocus and form deprivation in infant monkeys.

METHODSAmong seven normal infant rhesus monkeys (aged 1 to 1.5 months), five wore -3.00 D spectacle lenses over their right eyes and zero-powered lenses over their left eyes. Monocular form deprivation was produced by eyelid fusion in two monkeys. Ten weeks later, the monkeys were sacrificed by an overdose of barbiturates and their eyes were removed immediately. A 5 mm x 5 mm button of retina and sclera was taken from the posterior poles along with a 4-mm optic nerve. RNA was isolated separately from each of these three types of tissues. After that, reverse transcription polymerase chain reaction (RT-PCR) was used for determining gene expression in the retina, sclera and optic nerve. Semi-quantitative analyses were performed on the PCR products.

RESULTSAs expected, the optically induced hyperopic defocus and the form deprivation produced myopic growth. For the lens-treatment monkeys, pax-6 gene expression in the retinas of the defocused eyes was significantly higher than in the retinas of the left eyes (t = 5.703, P = 0.005). However, there were no analogous significant differences between pax-6 expression in the scleras or the optic nerves. For the two form-deprived monkeys, there were no obvious differences in pax-6 gene expression in the retinas or the optic nerves.

CONCLUSIONThe result that the expression of pax-6 was enhanced by hyperopic defocus in the infant monkey retina suggests that pax-6 may be involved in vision-dependent eye growth and emmetropization.

Animals ; Eye Proteins ; Gene Expression Regulation ; Homeodomain Proteins ; genetics ; Macaca mulatta ; Myopia ; metabolism ; Optic Nerve ; metabolism ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Repressor Proteins ; Retina ; metabolism ; pathology ; Reverse Transcriptase Polymerase Chain Reaction ; Sclera ; metabolism

OBJECTIVEUse xenologous sclera (pig sclera) as wrapping materials for hydroxyapatite (HA) ocular implants in enucleated New Zealand white rabbits.

METHODSTen rabbits were unilaterally enucleated and the sockets implanted with 10 mm HA spherical implants. All implants were wrapped with pig sclera. The rabbits were killed 4 weeks later and the sockets were examined clinically for inflammation and implant exposure. Exenterated specimens were assessed histopathologically for inflammation and vascularization.

RESULTSNo clinical evidence of implant exposure or extrusion was detected in rabbits receiving pig sclera wrapped implants. Histopathologically the xenologous (pig) sclera displayed moderate inflammation, as well as maintain its lamellar arrangement without disruption. Fibrovascular ingrowth was complete in all implants.

CONCLUSIONXenologous (pig) sclera behaves similar clinically to homologous sclera as a wrapping material for spherical HA ocular implants in a rabbit model, and may represent a reasonable alternative to sclera in such procedures in humans.

Animals ; Durapatite ; Neovascularization, Pathologic ; Orbital Implants ; Prosthesis Implantation ; methods ; Rabbits ; Sclera ; blood supply ; pathology ; transplantation ; Swine ; Transplantation, Heterologous

The eyeball can be divided into the anterior and posterior compartment bordering on the lens. The ocular wallis composed of three layers, namely the sclera, choroid and retina. Different pathologic conditions can occur,depending on the anatomic location. This paper illustrates the anatomical features of normal eyeball, as seen onMRI, and a variety of pathologic conditions of the compartments. An understanding of the MR features of variousintraocular lesions is thus facilitated
Choroid ; Magnetic Resonance Imaging* ; Pathology* ; Retina ; Sclera