C. Westerfeld

Stargardt's Disease and the ABCR Gene

Stargardts disease is an autosomal recessive form of juvenile macular degeneration. The clinical presentation, relevant ancillary tests, and classic histologic features will be reviewed. The role of genetic mutations in the pathophysiology of Stargardts disease will also be explored. Stargardts disease is caused by mutations in the ABCR (ABCA4) gene on chromosome 1. Mutations in this gene have also been attributed to some cases of cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. The genetic and molecular pathways that produce Stargardts disease will be discussed. Future diagnostic and therapeutic objectives for this visually disabling condition will also be presented.

Idiopathic subfoveal choroidal neovascular membrane in a 21-month-old child: Ultrastructural features and implication for membranogenesis

PURPOSE To report the clinical and pathologic features of an idiopathic choroidal neovascular membrane (CNVM) in a 21-month-old child and to discuss the unique findings of infantile CNVM in the context of understanding the mechanism of membrane formation. METHODS The CNVM was removed by submacular surgery. Light and electron microscopic tissue analyses were used to elucidate the structure and constituents of the CNVM. RESULTS Postoperative vision was 20/60 at 10 months without evidence of recurrence. Endothelium-lined vascular channels were observed within a membrane composed entirely of retinal pigment epithelial (RPE) cells with an associated fibrocollagenous and amorphous matrix. No inflammatory cells were identified. The RPE cells toward the inner (photoreceptor) side of the membrane exhibited a less-differentiated appearance, having lost their polarity and most of their cytoplasmic melanin granules. They secreted more prominent fibrils and mucopolysaccharides. Fenestrated endothelial cells surrounded by pericytes were present between the proliferating RPE cells. CONCLUSIONS Submacular surgery can be beneficial for idiopathic CNVM in pediatric patients, even at this early age. Proliferating RPE cells in the current membrane appear to be capable of performing all of the necessary functions associated with membranogenesis, even in the absence of inflammatory cells.

Enterobacter amnigenus endophthalmitis

PURPOSE To describe a case of Enterobacter amnigenus endophthalmitis. METHODS A 33-year-old, previously healthy man presented with unilateral hypopyon uveitis. Visual acuity in the affected eye was counting fingers. Initial laboratory workup was negative. Vitreous cultures revealed the offending agent. RESULTS The patient was treated with intravenous and intravitreal antibiotics and responded well. Final visual acuity was 20/30. CONCLUSION Enterobacter species have been rarely reported as causes of endophthalmitis. E. amnigenus is almost never pathogenic in humans and previous cases have been described in immunocompromised individuals. Our case demonstrates that appropriate treatment of E. amnigenus endophthalmitis in an immunocompetent individual can result in a good visual outcome.

Retinal and choroidal biopsy.

Most of the posterior segment processes can be diagnosed solely on the basis of the clinical examination. Ancillary tests such as fluorescein angiography, ultrasonography, optical coherence tomography, radiography, and serology further enhance our ability to make an accurate diagnosis. As a result, retinal and choroidal biopsies are rarely performed due to lack of necessity, difficulty of the procedures, and potential complications. However, certain cases present without characteristic clinical features, and the etiology remains obscure. Furthermore, certain disease states may have overlapping clinical features making them difficult to differentiate. In these cases, performing a retinal or choroidal biopsy may be essential to determine an accurate diagnosis.

Modified Controlled Encircling Scleral Buckle for Retinal Detachment

During encircling scleral buckle placement, the ends of the element are tightened to achieve a shortened radius of the eye. The determining factor of the final buckle height is subjective using usually a combination of the buckle height visualized with the degree of scleral indentation and can be difficult to be taught early on to trainees. Here, we describe a case series in which a modified controlled encircling scleral buckle technique that simplifies and standardizes the achievement of reproducible buckle height of about a 1 mm is objective and easy to be taught. This novel encircling scleral buckling technique successfully achieves a good postoperative scleral buckle height in a reproducible and standardized fashion using objective measurements and it is easier to be taught to trainees.

ABC Transporters in Ophthalmic Disease

ABC transporters have been implicated in a variety of human diseases. The ABCR gene and its protein have been linked to Stargardts disease, fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. The genetic and molecular pathways involved in the pathogenesis of ABCR-related ophthalmic conditions will be explored. Future diagnostic and therapeutic objectives for these diseases will also be discussed.