Joseph Sowka

Tilted disc syndrome

BACKGROUND Tilted disc syndrome (TDS) has a varied morphological appearance which can be difficult to differentiate from acquired optic nerve pathology. In addition, there are visual deficits and potential complications associated with this syndrome. Failure to recognize features of the TDS frequently leads to unnecessary medical evaluation or improper examination for possible associated ocular complications. METHODS The literature is reviewed to examine the embryonic developmental defects that create TDS. Characteristic ophthalmoscopic features of the disc, visual field deficits, electrofunctional abnormalities, retinal pigment epithelial and choroidal hypoplasia, refractive error, and choroidal neovascular development are examined from a clinical standpoint. RESULTS The literature clearly identifies visual deficits and ocular complications, which must be understood in the context of TDS. CONCLUSIONS TDS is a congenital anomaly that has visual deficits and an appearance that can mimic serious neurological disease. Also, there are potential vision-threatening complications that are typically not associated with a congenital anomaly.

Pigment dispersion syndrome and pigmentary glaucoma

BACKGROUND Pigmentary glaucoma is a common secondary glaucoma that results from pigment being liberated from the posterior iris with subsequent buildup in the trabecular mesh-work. Following this, there is a decrease in aqueous outflow and resultant rise in intraocular pressure. PURPOSE While this presentation typically occurs in white myopic males, there is a distinct subtype that occurs in patients of African descent. While there are similarities between the races, there are also significant differences in the clinical presentation of pigmentary glaucoma in white patients and patients of African descent. Iris transillumination defects, corneal endothelial pigment accumulation, and a concave iris-common in whites-are typically absent in patients of African descent. METHOD The literature is reviewed in order to summarize pigment dispersion syndrome and pigmentary glaucoma.

Sturge-Weber syndrome and glaucoma

BACKGROUND Sturge-Weber syndrome (SWS) belongs to a group of disorders known as the phakomatoses. It is characterized by congenital hamartomatous malformations involving the eye, skin, and central nervous system. Several ocular complications are associated with SWS, including glaucoma. CASE A 66-year-old black man presented with a history of SWS and previously diagnosed glaucoma. CONCLUSION Clinicians need to be aware of cutaneous, neurologic, and ocular complications of this condition. However, glaucoma is the most common ocular complication of SWS.

Hemorrhagic complications of optic disc drusen and available treatment options.

BACKGROUND Optic disc drusen typically are considered benign findings. However, optic disc drusen can manifest with hemorrhagic complications. CASE REPORT A dilated fundus examination on a 27-year-old visually asymptomatic optometry student found a juxtapapillary hemorrhage one quarter of a disc diameter in size in the right eye, immediately off the superior nasal aspect of the disc. Bilateral disc drusen, confirmed by hyperreflectivity on ultrasonography, were also noted. Fluorescein angiography and optical coherence tomography were diagnostic only for a deep isolated intra- and subretinal hemorrhage. Neither diagnostic modality could confirm the presence or absence of a choroidal neovascular membrane. Because of the asymptomatic nature, location of the hemorrhage, and lack of conclusive etiology, close monitoring was recommended. After 4 months, 75% of the hemorrhage had reabsorbed with no visual complications. CONCLUSIONS Optic disc drusen can cause ocular hemorrhages through several mechanisms. Although many are benign and self-limiting, it is important to understand available treatment modalities should vision be threatened.

Phlyctenular keratoconjunctivitis in a patient with Staphylococcal blepharitis and ocular rosacea.

BACKGROUND Phlyctenular keratoconjunctivitis is a type IV hypersensitivity reaction to an inciting agent. The presentation is usually bilateral. The diagnosis can be difficult, especially if compounded by an underlying skin disorder such as rosacea. The 2 types of phlyctenules are differentiated based on the location on the eye, i.e., conjunctival or corneal. CASE REPORT A 22-year-old man presented with painful, bilateral, elevated vascularized corneal lesions. Ultimately, the diagnosis was bilateral phlyctenular keratoconjunctivitis secondary to concurrent posterior blepharitis and recurrent ocular rosacea. The patient was treated with topical steroids and followed up with until his lids and corneas stabilized. He was then maintained with oral doxycycline and cyclosporine ophthalmic emulsion 0.5%. Lid hygiene and maintenance is a key factor in the course of the disease. CONCLUSION Phlyctenular keratoconjunctivitis usually responds well to topical steroids, but any inciting agents should be identified and treated. Complications include corneal scarring, thinning, and perforation. Staphylococcus aureus is a common culprit, and tuberculosis as a possible cause should also be considered.

Bitemporal visual field defects mimicking chiasmal compression in eyes with tilted disc syndrome

BACKGROUND Tilted disc syndrome (TDS) is a congenital optic nerve coloboma occurring from embryonic dysgenesis. Several features characterize TDS, including an inferiorly located conus, situs inversus of the major retinal vessels, and an anomalous disc shape. Commensurate with axonal dysgenesis, visual field defects may often occur from TDS, the most common of which involve the temporal and superior temporal visual field. These visual field defects can mimic those seen in chiasmal compression from a mass lesion. CASES Five patients from New South Wales, Australia, with distinct TDS and bitemporal visual field defects on frequency doubling threshold perimetry seemingly respecting the vertical hemianopic line are presented. Neuroimaging and medical evaluation of each failed to show intracranial chiasmal pathology in any patient. CONCLUSIONS TDS can present with visual field loss resembling that seen in chiasmal disease. Although most cases of temporal visual field loss from TDS do not respect the vertical hemianopic line and are not true quadrantanopsias, there are instances in which this does occur, likely caused by the testing modality used. It is essential that patients with suspected intracranial pathology undergo immediate neuroimaging, even in the face of TDS.

Pseudoexfoliation syndrome and pseudoexfoliative glaucoma.

BACKGROUND Pseudoexfoliative glaucoma (PXG) is a common secondary glaucoma that occurs when pigment and abnormal basement membrane material from anterior segment anatomical structures deposit in the trabecular meshwork. This anomaly arises from the predisposing condition, pseudoexfoliation syndrome (PXE). Complications are common, making this one of the most difficult glaucomas to manage. PURPOSE The literature is reviewed in order to facilitate understanding of this condition.

Bilateral phacomorphic angle-closure glaucoma in a highly myopic patient secondary to isolated spherophakia

BACKGROUND Angle closure most commonly occurs in older hyperopic patients as a result of primary relative pupil block. Less frequently, angle closure occurs in highly myopic patients with conditions other than primary relative pupil block. This report presents the diagnosis, pathophysiologic mechanism, and management of a patient with both high myopia and bilateral advanced phacomorphic angle-closure glaucoma caused by isolated spherophakia. CASE A 40-year-old asymptomatic man with very high myopic astigmatism presented with chronic angle closure and an intraocular pressure of 42 mmHg in both eyes. Additionally there was a nonmyopic fundus and 24-mm axial length, with a clear crystalline lens protruding through the pupillary plane in each eye, confirmed by B-scan ultrasonography. Gonioscopy and A-scan and B-scan ultrasonography identified the pathogenesis of intraocular pressure elevation, angle closure, and high myopia to be lenticular in origin. Initial medical therapy and subsequent laser iridotomy relieved the pupil block angle closure and successfully lowered intraocular pressure. CONCLUSION Angle closure can occur in highly myopic eyes. Careful gonioscopy and ultrasonography can lead to the correct diagnosis and tailored management for these eyes. Phacomorphic angle-closure glaucoma from spherophakia is associated with Weill-Marchesani syndrome as well as a few other uncommon syndromes. Isolated pseudophakia is a rarely reported cause of phacomorphic angle closure.

Monitoring keratitis resolution with optical coherence tomography.

Purpose Biomicroscopy is generally used, sometimes in conjunction with photography or ultrasound pachymetry, to monitor conditions involving stromal keratitis and edema. Spectral-domain optical coherence tomography (SD-OCT), a technology typically used to examine the posterior segment, may be useful in monitoring the therapeutic interventions for conditions involving corneal edema such as disciform keratitis. Case Reports Two cases of disciform keratitis were followed to resolution using SD-OCT with anterior segment imaging software (Cirrus 4000; Carl Zeiss Meditec, Dublin, CA) to quantify decreasing edema throughout treatment. The thickest area of the cornea was located and measured across time using SD-OCT until resolution was achieved. Throughout each case, SD-OCT allowed precise localization of microcystic edema and keratic precipitates as well as the objective measurement of therapeutic interventions resulting in reduced edema and thickness. Conclusions The use of SD-OCT allows objective measurements of corneal thickness and presents an additional method for following stromal keratitis with greater accuracy than can be appreciated using biomicroscopy alone.

Regression of myelinated retinal nerve fibers in a glaucomatous eye.

Purpose The purpose of this study is to present a case of a patient with primary open angle glaucoma and poorly controlled intraocular pressure, who underwent photodocumented atrophy of myelinated retinal nerve fibers. Case Report A 48-year-old woman with high myopia, refractive amblyopia, and extensive myelination of retinal nerve fibers underwent profound atrophy and regression of the myelination during an 8-year period. Conclusions Myelinated retinal nerve fibers can atrophy and regress because of neurodegenerative conditions such as glaucoma.