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. Her ophthalmic exam was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal non-perfusion. Subsequent genetic testing revealed a TUBA1A genetic variant. CONCLUSION: Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal exam and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.

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. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1. Case 1 exhibited distinctly abnormal iris stroma with a prominent cleft separating the anterior and posterior stroma. Lacy vacuolization of the iris pigment epithelium was seen in case 2. CONCLUSIONS: Alagille syndrome is primarily a hepatic disorder but presents with several distinct ocular pathologic features, most specifically posterior embryotoxon. This and the unusual iris stroma may be caused by improper migration of neural crest cells due to mutation in the Jagged 1 gene that causes Alagille syndrome. Patients with Alagille syndrome rarely present to ocular autopsy. Pathology findings may help us better understand the pathophysiology of the ocular abnormalities in this disorder.

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. METHODS: This study was conducted over 4 weeks in eight cities and villages in Botswana. Children were recruited through a radio advertisement and local outreach programmes. Those ≤ 15 years of age with visual acuity <6/18 in either eye were enrolled. The WHO/Prevention of Blindness Eye Examination Record for Children with Blindness and Low Vision was used to record data. RESULTS: The authors enrolled 241 children, 79 with unilateral and 162 with bilateral VI. Of unilateral cases, 89% were avoidable: 23% preventable (83% trauma-related) and 66% treatable (40% refractive error and 31% amblyopia). Of bilateral cases, 63% were avoidable: 5% preventable and 58% treatable (33% refractive error and 31% congenital cataracts). CONCLUSION: Refractive error, which is easily correctable with glasses, is the most common cause of bilateral VI, with cataracts a close second. A nationwide intervention is currently being planned to reduce the burden of avoidable childhood VI in Botswana.

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. METHODS: The medical records of 44 patients who underwent 48 cases of SBIS between 1994 and 2009 were reviewed. Of the 48 cases, 27 were bilateral cataract extractions, 1 including intraocular lens placement; 21 were cases of bilateral glaucoma surgeries, including goniotomy, trabeculotomy, and filtering tube placement. Bilateral surgeries were performed in one session under general anesthesia with strict aseptic separation of the 2 surgeries. RESULTS: All but one of the cataract cases were performed in patients <1 year of age, and the majority (15/27) were performed in patients < or =1 month of age. Postoperative complications included aphakic glaucoma (5 patients) and reproliferation of lens material (3 patients). The majority of patients who underwent glaucoma procedures were <1 year of age (19/21), with 4 of 21 <1 month of age. One eye developed hyphema that required anterior chamber wash out. There were no catastrophic complications from the surgery or anesthesia (death, asphyxia, cardiac or respiratory arrest, or seizures) in either group. CONCLUSIONS: Simultaneous bilateral intraocular surgery was performed safely in 48 cases during a 15-year period. In selected pediatric cases requiring bilateral intraocular surgery for glaucoma or cataract, SBIS may reduce risks related to anesthesia and delayed surgery.

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. A complete ophthalmic and physical examination failed to reveal any other stigmata of neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2). An incisional biopsy of the palpable mass revealed a plexiform neurofibroma. Molecular sequencing of the NF1 and NF2 genes did not reveal causative mutations. Further investigation revealed a loss of function mutation in SPRED1 on chromosome 15. Although loss of function mutations in the SPRED1 gene are known to cause several dermatologic changes associated with the NF1-like phenotype, to our knowledge, this is the first description of a SPRED1 gene mutation resulting in ophthalmic abnormalities.

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. Examination revealed vitritis, creamy yellow circular chorioretinal lesions, and peripheral visual field loss. RESULTS: Laboratory investigation indicated the patient was suffering from WNV meningoencephalitis with neuro-ocular involvement. CONCLUSION: Ophthalmologists and infectious disease specialists should recognize that the WNV infection spectrum may include ophthalmic findings, specifically optic neuritis and multifocal chorioretinitis.