Bilateral ocular hypertension with rapidly progressive optic neuropathy in a teen.

PURPOSE: We report a rare case of bilateral juvenile open-angle glaucoma (JOAG), with discussion of current understanding of its pathogenesis, differential diagnosis, genetics, and management. The importance of tonometry and dilated fundus examination as essential parts of a complete ocular examination, regardless of patient age, is emphasized. CASE REPORT: A Hispanic female teenager presented for an updated eye examination as a requirement before joining military boot camp. Chief concern was blurry vision at distance, with no other reported ocular or systemic problems. She manifested simple myopia in both eyes and was correctable to 20/20 in each eye with glasses. However, intraocular pressure (IOP) in each eye was measured above 40 mm Hg. Subsequent automated perimetry showed significant visual field defects, and laser polarimetry analysis of the optic nerve fibers corresponded with the visual field loss pattern. Maximal medical therapy was administered to lower the IOP, with minimal success. Subsequent incisional trabeculectomy with topical antimetabolite were performed in both eyes to achieve adequate control of her IOPs. CONCLUSIONS: Juvenile-onset Open Angle Glaucoma (JOAG) has been proposed to be a small subset of Primary Open Angle Glaucoma (POAG) and on a continual spectrum of Primary Open Angle Glaucoma. Because most patients with JOAG are asymptomatic, tonometry and optic nerve analysis are crucial in early detection and, thus, must be performed on all patients, young and old. JOAG has a variable onset, with rapidly progressive neuropathy that does not respond well to medical therapy alone, and surgical intervention is often the eventual treatment of choice. Mutations in the myocillin gene have been strongly linked to the disease. JOAG follows an autosomal dominant inheritance with relatively high penetrance. As such, close monitoring, genetics screening, and/or early medical management to prevent irreversible optic neuropathy and blindness should be considered as well for presymptomatic family members.

Astrocytic hamartoma: a case report.

A 13-year-old Romanian boy presented to the eye clinic with a chief complaint of blurred distance and near vision. The patient reported a history of a boil on his neck that was removed in Russia one year ago. Cover testing demonstrated bilateral end point nystagmus and exotropia. Ocular health evaluation revealed an astrocytic hamartoma and oculo-rotary nystagmus. Referral to a retinal specialist helped confirm the diagnosis of astrocytic hamartoma but did not elucidate on the possible aetiology of the lesion or rule out tuberous sclerosis as the causative agent, as the patient was lost to follow-up. Based on fundus signs along with the nystagmus, neuro-imaging studies are indicated to rule out any intracranial masses that may be present. The most important differential diagnosis that must excluded is retinoblastoma, which can closely resemble astrocytic hamartoma. The suspicion of tuberous sclerosis was also considered as a potential cause of the retinal lesion, based on clinical signs. The prognosis for astrocytic hamartomas is relatively good, although until tuberous sclerosis is ruled out, caution should be exercised and serial ophthalmic evaluations should continue.

Clinical evaluation of the Keeler Pulsair 3000 non-contact tonometer.

BACKGROUND: The Keeler Pulsair 3000 is a recently introduced non-contact tonometer that is especially useful for children and those for whom sitting at a slit-lamp or table-mounted unit would be difficult. In this project, intraocular pressures (IOPs) measured by Keeler Pulsair 3000 and Goldmann tonometers were compared to assess validity and reliability of the Pulsair 3000 data. METHODS: Two Pulsair 3000 IOPs (each the mean of four individual air-puff readings) and two Goldmann IOPs were measured for each eye of 113 subjects. Subjects were also asked which measurement technique they preferred. RESULTS: IOPs ranged from 9 to 28 mmHg. Correlations between the two Goldmann IOPs measured for the right and left eyes were 0.98 and 0.97, respectively. These values are higher than correlations between Pulsair and Goldmann measurements (0.86 to 0.91). Pulsair 3000 IOPs were slightly above Goldmann values for pressures of less than 15 mmHg and slightly below for IOPs greater than 15 mmHg. Extrapolation to a Goldmann IOP of 30 mmHg suggests the Pulsair 3000 would read about 6% (1.7 mmHg) too low at this IOP. Eight eyes (7%) had differences between Pulsair 3000 and Goldmann IOP readings of 5.0 mmHg or more. Single outlier pressures accounted for these differences in three out of the eight eyes. CONCLUSIONS: In the range of 10 to 24 mmHg, the Pulsair 3000 tonometer produced IOP readings that corresponded well with Goldmann values for most eyes and was preferred by the majority of subjects who indicated a preference. The Pulsair 3000 is relatively easy to use by technicians and has numerous special applications in optometric practice (e.g. measuring IOPs for pediatric patients and those with compromised corneas).