Faculty Bibliography

PURPOSE: To describe multifocal choroiditis in two siblings. METHODS: Retrospective case reports. RESULTS: Two sisters presented 10 years apart with multifocal choroiditis. The first sister manifested late findings of multiple punched-out chorioretinal lesions and a quiescent central fibrovascular scar. The second sister presented in the acute phase with multiple creamy yellow lesions near the optic nerve and fovea and with a choroidal neovascular membrane. Both cases were unilateral. DISCUSSION: Multifocal choroiditis is an inflammatory disorder of the inner choroid and retinal pigment epithelium of unknown etiology. There is no gene associated with multifocal choroiditis, and to our knowledge, no cases of relatives with the disease have been reported. CONCLUSION: We describe multifocal choroiditis in two sisters, suggesting a possible genetic or environmental component to this disease. Further study is necessary to better elucidate the etiology of this disease.

PURPOSE: To delineate the 3-dimensional (3-D) relationship in vitreomacular traction (VMT) and idiopathic epiretinal membrane (ERM). DESIGN: Observational case series. METHODS: Forty-eight evaluable eyes of 35 patients with VMT or idiopathic ERM were investigated with spectral-domain (SD) optical coherence tomography (OCT). VMT was defined as focal if the diameter of the vitreous attachment was 1500 microm or less and broad if it was more than 1500 microm. The 3-D OCT representation of vitreomacular interface abnormalities was evaluated. RESULTS: Focal VMT was seen in five eyes. Broad VMT was seen in seven eyes. Of these 12 eyes, concurrent ERMs under the detached vitreous were seen in 10 eyes and zones of hyperreflectivity affecting the adjacent detached posterior hyaloid face were seen in 11 eyes. Eyes with focal VMT showed a foveal cavitation, whereas eyes with broad VMT had more widespread cystoid macular edema. Idiopathic ERM was seen in 36 eyes; 30 had complete posterior vitreous detachment (PVD), five had partial PVD associated with attached posterior hyaloid at some peripheral portion of the ERM, and one had no PVD. CONCLUSIONS: The SD OCT with 3-D image reconstruction provided unprecedented visualization of VMT and idiopathic ERM. The vitreous attachment to the macula can be subclassified into two subgroups, each having specific induced alterations in retinal anatomy. Most of the eyes with VMT had concurrent ERM, whereas several eyes with idiopathic ERM had attachment of the vitreous to some portion of the ERM, which suggests there is significant overlap between VMT and idiopathic ERM

PURPOSE: To report the occurrence of central serous chorioretinopathy in patients with keratoconus and discuss the possible connection between these two conditions. METHODS: Observational case series. RESULTS: The authors identified three subjects with keratoconus and central serous chorioretinopathy. All patients underwent visual acuity measurement, fundus examination, digital fluorescein angiography, and optical coherence tomography. CONCLUSIONS: Keratoconus and central serous chorioretinopathy are two uncommon diseases, possibly due to dysfunction of epithelium and its basement membrane, which can occur together in some individuals. The authors discuss the possible connection between these two conditions

BACKGROUND: Retinal angiomatous proliferation (RAP) is a distinct form of neovascularization in patients with age-related macular degeneration. Lacking definitive sequential histopathologic evidence of its intraretinal versus choroidal origin, the clinical observations of early stages of RAP lesions may provide clues to help further expand our understanding of this entity. METHODS: Five eyes of four patients with early Stage 1 RAP were examined. Fundus photography, fluorescein and indocyanine green angiography as well as time-domain and spectral-domain optical coherence tomography were performed. Images were assessed to determine the characteristics of neovascularization in early stage RAP lesions and the response of the lesions to treatment or observation. RESULTS: The analysis of the selected cases suggests a choroidal origin of the neovascular complex with the early formation of a retinal choroidal anastomosis without evidence of underlying occult Type 1 neovascularization. Three eyes responded to a single treatment with intravitreal ranibizumab (0.5 mg) and 2 eyes (1 patient) resolved spontaneously without treatment. CONCLUSION: The neovascularization in RAP may originate not only from deep retinal capillaries but also from the choroid. We therefore propose the more descriptive term 'Type 3 neovascularization' for this entity to emphasize the intraretinal location of the vascular complex and distinguish this type from the two types of neovascularization previously described by J. Donald Gass in his classic text

PURPOSE: To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT). METHODS: Thirty patients with diagnoses of IPT underwent standard ophthalmologic evaluation that included visual acuity testing, fundus photography, and fluorescein angiography. DNA was screened for variations in the ATM gene by a combination of denaturing high-performance liquid chromatography and direct sequencing. Major AMD-associated alleles in CFH, CFB, and 10q loci were screened by PCR-restriction fragment-length polymorphism. RESULTS: Nineteen female and 11 male patients (average age, 59 years) with a median visual acuity of 20/50 were evaluated. Six patients were of Asian-Indian origin, one was Hispanic, and 23 were of European-American ancestry. Nine of 30 (30%) patients had diabetes mellitus, 18 of 30 (60%) patients had hypertension, and 12 of 30 (40%) patients had a history of smoking. Screening of the ATM gene revealed a null allele in 2 of 23 (8.7%) patients of European ancestry, previously disease-associated missense alleles in 4 of 23 (17.4%) patients, and common missense alleles in 7 of 23 (30.4%) patients. No variants were identified in the ATM gene in patients of Asian or Hispanic origin. Frequencies of major AMD-associated alleles in CFH, CFB, and 10q loci in the IPT cohort were similar to those in the ethnically matched general population. CONCLUSIONS: At least 26%, and maybe up to 57%, of IPT patients of European-American descent carried possibly disease-associated ATM alleles. Vascular risk factors such as hypertension, diabetes, and smoking may be associated with the pathogenesis of the disease

OBJECTIVE: To analyze the frequency of major age-related macular degeneration (AMD)-associated alleles in patients with multifocal choroiditis (MFC). METHODS: A cohort of 48 patients with MFC was compared with previously characterized cohorts of patients with advanced AMD (368 samples) and matched unaffected controls (368 samples). Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated alleles were evaluated: risk alleles in complement factor H (CFH) gene (Y402H and IVS14) and LOC387715/HTRA1 gene on 10q26 (A69S) and protective alleles in CFH (IVS1, IVS6, and delCFHR1-3) and complement factor B loci (H9L and R32Q). RESULTS: Frequencies of all major AMD-associated alleles in the CFH locus indicate a strong, statistically significant association of CFH gene single nucleotide polymorphisms and MFC. However, the same analysis for the single nucleotide polymorphisms in complement factor B and 10q26 loci matched the results in the control group. CONCLUSIONS: Like AMD, the MFC phenotype is strongly associated with the major alleles/haplotypes in the CFH locus. Clinical Relevance We report compelling evidence of a strong association between CFH polymorphisms and MFC, which contributes to the understanding of MFC pathogenesis and suggests new potential therapeutic targets

PURPOSE/OBJECTIVE:To describe the fundus autofluorescence photographic pattern in a case of deferoxamine retinopathy. METHODS:Observational case report. RESULTS:A 91-year-old woman receiving intravenous deferoxamine treatment presented with a history of deteriorating vision in both eyes. Autofluorescence photography revealed well circumscribed areas of hyperautofluorescence that correlated with areas of pigmentation shown by color photography. Deferoxamine retinopathy was diagnosed. CONCLUSION/CONCLUSIONS:Fundus autofluorescence photography is a noninvasive imaging method for early detection of deferoxamine retinopathy and can be used to monitor the status of the macula in patients at risk for this toxicity.