A Case of Presumed Dyskeratosis Congenita Causing Severe Retinal Vascular Occlusion.

Dyskeratosis congenita (DKC) is a rare, multisystem, bone marrow failure disease characterized by abnormalities such as in the skin, mucosa, nervous system, and lungs. Here we report a rare case of presumed DKC causing total retinal detachment in the right eye and severe peripheral retinal vascular occlusion in the left eye. A 3-year-old boy was presented with vitreous hemorrhage and total retinal detachment in the right eye and was scheduled to undergo vitreous surgery in the right eye and detailed ophthalmologic examination of the left eye under general anesthesia.

Compressive optic neuropathy (CON) in Graves' disease caused by hypertrophy of levator and superior rectus muscles: A case report.

Rationale: Enlargemento of the medial rectus is the most predominant factor of compressive optic neuropathy (CON) in Graves' disease. This case report indicates that CON could develop only from the hypertrophic superior levator and superior rectus (SL/SR) muscle in a patient with poorly controlled Graves' disease, and described the possible risk of FT3-thyrotoxicosis with a prominent goiter to develop the current rare case with a review of the literature.

Patient Concerns: A 66-year-old woman undergoing endocrine management of hyperthyroidism with prominent goiter visited the Department of Ophthalmology due to right-eye upper-eyelid retraction.

A Case of Giant Pituitary Adenoma Associated with a Postoperative Mental Disorder That Ultimately Resulted in Bilateral Blindness.

Purpose: To report the case of a patient with adrenocorticotropic hormone (ACTH)-producing pituitary adenoma who developed a mental disorder after initial surgery that kept him from undergoing scheduled follow-up visits and who ultimately had a giant recurrent tumor that resulted in blindness.

Case Report: A 37-year-old male presented with the primary complaint of decreased visual acuity (VA) in both eyes and visual field defects. Visual field examination revealed bitemporal hemianopia.

Convergent strabismus fixus after bilateral abducens nerve palsies due to aneurysms: A case report.

Rationale: Convergent strabismus fixus is an ocular motor abnormality in which the eye is fixed in adduction. This condition is mostly associated with high myopia and is caused by a displacement of the extraocular muscles. We report a nonmyopic woman with convergent strabismus fixus due to aneurysms.

Ocular findings in Japanese children with Down syndrome: the course of visual acuity and refraction, and systemic and ocular anomalies.

Purpose: To investigate the age-related development of refractive errors and changes of visual acuity (VA), and the systemic and ocular anomalies in Japanese children and young adults with Down syndrome (DS).

Design: Retrospective cohort study.

Subjects And Methods: This study involved 222 Japanese children and young adults with DS (age range: 3 months to 19 years) seen at the Department of Ophthalmology, Shiga Medical Center for Children, Shiga, Japan.

C-reactive protein may be useful to differentiate idiopathic orbital inflammation and orbital cellulitis in cases with acute eyelid erythema and edema.

Purpose: Idiopathic orbital inflammation (IOI) and orbital cellulitis can present similar clinical features, and the diagnoses of these two disorders are sometimes confused. The purpose of the present study was to determine whether or not inflammatory markers in the blood can be useful to differentiate between IOI and orbital cellulitis in cases with acute eyelid erythema and edema.

Subjects And Methods: In this retrospective single-institute study, we reviewed the medical records spanning the past 10 years at the Department of Ophthalmology, Osaka Medical College Hospital, Takatsuki, Osaka, Japan, and found 45 cases, with patients >15 years of age, with presumed IOI.

A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing.

Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing.

Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause.

A Case of Childhood-Onset Giant Cell Tumor that Caused Optic Nerve Atrophy in Both Eyes.

Purpose: The purpose of this study was to report the case of a female patient who had a giant cell tumor in the paranasal sinus during childhood, and while undergoing multiple resection surgeries experienced optic atrophy in both eyes.

Case Presentation: This study involved a 35-year-old woman who was previously diagnosed with a giant cell tumor of the paranasal sinus bone at age 13. A CT scan revealed a large tumor extending from the sphenoid sinus to the ethmoid sinus.

Complete Recovery from Blindness in Case of Compressive Optic Neuropathy due to Unruptured Anterior Cerebral Artery Aneurysm.

It is not common for an isolated visual symptom to be the first indication of an aneurysm compressing the optic nerve. The compression can lead to blindness, and a recovery from the blindness is rare. We report a female with a left painless optic neuropathy caused by an unruptured anterior cerebral artery aneurysm.

A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.

Purpose: We performed ophthalmic examinations, including optical coherence tomography (OCT), on a case diagnosed with hydranencephaly.

Case Report: This case involved a female infant born at the gestational age of 35 weeks and 4 days, with the birth weight of 2,152 g, who was one of monochorionic diamniotic twins, and the identical twin died in utero at the gestational age of 24 weeks. After that, examination by fetal echo indicated that she had microcephaly and ventriculomegaly.

A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism.

Purpose: To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC) was indicated in utero.

Case Report: This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI) at a nearby clinic during the fetal period.

A Case of Uveal Colobomas Showing Marked Left-Right Difference in Diabetic Retinopathy.

Purpose: Congenital uveal colobomas, including inferior iris and choroidal colobomas, are associated with microcornea and microphthalmia and often show left-right differences (laterality). The purpose of this study was to report a case of choroidal coloboma associated with left-right differences in diabetic retinopathy (DR).

Case: This study reports a 59-year-old male with bilateral iris and choroidal colobomas.

Changes in expression of aquaporin-4 and aquaporin-9 in optic nerve after crushing in rats.

The purpose of this study was to determine the temporal and spatial changes in the expression of AQP4 and AQP9 in the optic nerve after it is crushed. The left optic nerves of rats were either crushed (crushed group) or sham operated (sham group), and they were excised before, and at 1, 2, 4, 7, and 14 days later. Four optic nerves were pooled for each time point in both groups.

Systemic simvastatin rescues retinal ganglion cells from optic nerve injury possibly through suppression of astroglial NF-κB activation.

Neuroinflammation is involved in the death of retinal ganglion cells (RGCs) after optic nerve injury. The purpose of this study was to determine whether systemic simvastatin can suppress neuroinflammation in the optic nerve and rescue RGCs after the optic nerve is crushed. Simvastatin or its vehicle was given through an osmotic minipump beginning one week prior to the crushing.

Immunoglobulin G4-positive Sclerosing Idiopathic Orbital Inflammation: New Neuro-ophthalmological Presentations.

We report two rare cases of biopsy proven Immunoglobulin G4-related sclerosing orbital inflammation (IgG4SOI). The first case had intracranial involvement which, to our knowledge, is the first IgG4SOI case with serum cerebrospinal fluid abnormalities and the second case had an unusual presentation of a compressive optic neuropathy and systemic lymphadenopathy.

Blocking endothelin-B receptors rescues retinal ganglion cells from optic nerve injury through suppression of neuroinflammation.

Purpose: The endothelins (ETs) cause reactive astrogliosis, which involves neuroinflammation and neurodegeneration in the central nervous system. The purpose of this study was to determine whether blocking the ET signals will protect retinal ganglion cells (RGCs) from optic nerve injury.

Methods: We studied the effect of pretreatment with BQ-123, an antagonist of ETA receptors, and BQ-788, an antagonist of ETB receptors, on the survival of RGCs after the optic nerve of rats was crushed.

Orbital apex syndrome associated with herpes zoster ophthalmicus.

We report our findings for a patient with orbital apex syndrome associated with herpes zoster ophthalmicus. Our patient was initially admitted to a neighborhood hospital because of nausea and loss of appetite of 10 days' duration. The day after hospitalization, she developed skin vesicles along the first division of the trigeminal nerve, with severe lid swelling and conjunctival injection.

Central retinal artery occlusion resembling Purtscher-like retinopathy.

This paper reports three cases of central retinal artery occlusion (CRAO) with Purtscher-like retinopathy and good recovery of visual function. The three cases of CRAO had similar fundus changes, ie, cotton wool patches surrounding the optic disc and whitening of the retina surrounding the fovea with a cherry red spot. Fluorescein angiography showed a delay of arm-to-retina circulation time and a partial defect of choroid circulation.

A case of eosinophilic chronic rhinosinusitis associated with optic neuropathy.

We report a case of eosinophilic chronic rhinosinusitis (ECRS) associated with optic neuropathy. The visual acuity in the right eye was suddenly reduced to no light perception on awakening in the morning. Fundus examination of both eyes on the same day showed no remarkable changes.

Effects of fasudil, a Rho-associated protein kinase inhibitor, on optic nerve head blood flow in rabbits.

Purpose: To investigate the effects of fasudil, a Rho-associated coiled coil-forming protein kinase (ROCK) inhibitor, on normal or impaired optic nerve head (ONH) blood flow in a rabbit model.

Methods: ONH blood flow was measured by laser speckle flowgraphy. Changes in ONH blood flow were examined during a continuous intravenous infusion of fasudil with and without the application of N(G)-nitro-L-arginine methyl ester (L-NAME), a nitric oxide synthase inhibitor.