Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy.

Purpose: To describe a case of TUBA1A-associated optic nerve hypoplasia and persistent fetal vasculature.

Methods: Observational case report.

Results: A female, full term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly.

Anterior Chamber Pathology in Alagille Syndrome.

Background: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome.

The pediatric red eye.

There is a broad differential for the pediatric red eye, which may range from benign conditions to vision- and/or life-threatening conditions. This article presents a systematic differential, red flags for referral, and treatment options.

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Progressive multisystem disease should invoke consideration of potential mitochondrial etiologies. Mitochondrial disease can affect any organ system at any time, particularly involving neurologic, cardiac, muscular, gastroenterologic, and/or ophthalmologic manifestations. We report here a 19-year-old Caucasian man who was followed since birth in multiple pediatric subspecialty clinics for myelomeningocele complications.

Survey of childhood blindness and visual impairment in Botswana.

Background/aims: In terms of blind-person years, the worldwide burden of childhood blindness is second only to cataracts. In many developing countries, 30-72% of childhood blindness is avoidable. The authors conducted this study to determine the causes of childhood blindness and visual impairment (VI) in Botswana, a middle-income country with limited access to ophthalmic care.

Simultaneous bilateral intraocular surgery in children.

Background: Simultaneous bilateral intraocular surgery (SBIS), defined as sequential bilateral intraocular surgery completed in one visit to the operating room, is a controversial topic. The reluctance of ophthalmologists to perform SBIS has been mainly attributable to concerns about bilateral catastrophic complications (endophthalmitis, expulsive hemorrhage, or retinal detachment). Herein we report our experience with SBIS in children and review the literature.

Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with a SPRED1 mutation and orbital manifestations.

A 4-year-old child with no medical history presented for evaluation of a small, palpable nodule near the left inferolateral rim. The lesion had a bluish hue and had been slowly enlarging over the course of several months. MRI of the orbits revealed a heterogenous and infiltrative preseptal and extraconal mass which enhanced with gadolinium, and sphenoid wing dysplasia on the left.

The effect of topical tetracaine eye drops on emergence behavior and pain relief after strabismus surgery.

Introduction: Pediatric strabismus surgery may be associated with postoperative nausea, vomiting, and emergence agitation (restlessness, thrashing, crying, moaning, disorientation). We hypothesize that emergence agitation after strabismus surgery is in part related to pain and that topical tetracaine ophthalmic drops can decrease the intensity and incidence of postoperative pain and emergence agitation.

Methods: Eighty-eight subjects aged 1 to 12 years scheduled for strabismus surgery were enrolled in a double-masked randomized control trial.

Effects of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS).

Purpose: The purpose of this report is to characterize the clinical and electrophysiological effects of extraocular muscle surgery in 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). Our hypothesis is that surgery on the extraocular muscles of patients with OCA and INS changes their nystagmus and their visual function.

Design: Interventional, prospective, cohort, noncomparative case series.

Visual loss with West Nile virus infection: a wider spectrum of a "new" disease.

We describe a case of severe visual loss as a result of West Nile virus (WNV) infection. Associated headache and fever led to the proper diagnosis and management, but the findings of optic neuritis, retinitis, and uveitis were a surprising and prominent component of the patient's meningitis syndrome. Physicians diagnosing and treating patients with WNV infection should be alerted to the possibility of ocular and optic nerve involvement, which may leave permanent neuropathic residua.

West Nile virus-associated optic neuritis and chorioretinitis.

Purpose: To report the new ocular and neurologic features of West Nile virus (WNV) meningoencephalitis.

Design: Observational case report.

Methods: A 55-year-old woman presented with headache, stiff neck, visual loss, and fever 10 days after a weekend camping trip.

Age, gender, biometry, refractive error, and the anterior chamber angle among Alaskan Eskimos.

Background: The prevalence of angle-closure glaucoma (ACG) is greater for Eskimos/Inuit than it is for any other ethnic group in the world. Although it has been suggested that this prevalence may be due to a population tendency toward shallower anterior chamber angles, available evidence for other populations such as Chinese with high rates of ACG has not consistently demonstrated such a tendency.

Methods: A reticule, slit-lamp, and standard Goldmann one-mirror goniolens were used to make measurements in the anterior chamber (AC) angle according to a previously reported protocol for biometric gonioscopy (BG) (Ophthalmology 1999;106:2161-7).

Ocular manifestations of hepatitis C virus infection.

Approximately 3.6 million persons in the United States are infected with the hepatitis C virus (HCV), a condition with both hepatic and extrahepatic sequelae. Although no pathognomonic manifestation of HCV infection in the eye has been demonstrated, associations between HCV infection and various ocular syndromes have been reported in small case series and individual patients.