AAO Journal Archive
- Classification of Vitreous Seeds in Retinoblastoma
- Topical 5-Fluorouracil 1% as Primary Treatment for Ocular Surface Squamous Neoplasia
- Individualized Stabilization Criteria–Driven Ranibizumab versus Laser in Branch Retinal Vein Occlusion
- Correlation of Histologic Features with In Vivo Imaging of Reticular Pseudodrusen
- Pseudodrusen and Incidence of Late Age-Related Macular Degeneration in Fellow Eyes in the Comparison of Age-Related Macular Degeneration Treatments Trials
- Pharmacotherapies for Retinal Detachment
- Can Automated Imaging for Optic Disc and Retinal Nerve Fiber Layer Analysis Aid Glaucoma Detection?
- Suture Colonization Rate in Adjustable Strabismus Surgery
- Genetic and Dietary Factors Influencing the Progression of Nuclear Cataract
- Diagnostic Accuracy of Optical Coherence Tomography and Scanning Laser Tomography for Identifying Glaucoma in Myopic Eyes
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The report by Small et al1 in the current issue (see p. 9) describes the discovery of the genetic cause of North Carolina macular dystrophy (NCMD) which initially was described as an autosomal dominant macular dystrophy by Lefler et al2 in 1971 and by Frank et al3 in 1974. North Carolina macular dystrophy is completely penetrant, highly variable among affected family members, and initially was considered slowly progressive (more on this later). The gene in the original families was assigned by classic linkage studies to chromosome 6 (MCDR1) in 1992.
Read more: Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy
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Small et al (p. 9) set out to identify specific mutations causing North Carolina macular dystrophy (NCMD). They identified 5 rare mutations, each of which is capable of arresting the development of the human macula. Four of the mutations strongly implicate the involvement of the gene PRDM13 in macular development, and although the pathophysiologic mechanism of the fifth remains unknown, it may involve the developmental dysregulation of IRX1. For this study, the researchers performed whole genome sequencing coupled with analysis of gene expression in human retinal cells.
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We read with great interest the recent paper by Kwon et al1 in which the authors examine the aqueous levels of cytokines in patients with diabetic eye disease, including angiopoietin-like 4 (ANGPTL4), a protein we and others have identified as an important vascular hyperpermeability factor in cancer.2 We were pleased to see the authors corroborate our recent study in which we first identified ANGPTL4 as an important player in the promotion of macular edema in patients with ischemic retinal disease, including diabetic macular edema.