1 / 19

Retina Conference

Retina Conference. Janelle Fassbender , MD, PhD University of Louisville Department of Ophthalmology and Visual Sciences 01/23/2014. Subjective. CC/HPI : 52 year old HF c/o the right half of faces looking abnormal. POH : None PMH : Hypertension, hyperlipidemia, type 2 DM

talon
Download Presentation

Retina Conference

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Retina Conference Janelle Fassbender, MD, PhD University of Louisville Department of Ophthalmology and Visual Sciences 01/23/2014

  2. Subjective CC/HPI: 52 year old HF c/o the right half of faces looking abnormal. POH: None PMH: Hypertension, hyperlipidemia, type 2 DM Meds: Metformin, 3 anti-hypertensive agents, omeprazole, prevastatin FOH: Mother with macular hole

  3. Objective OD OS Va(sc): 20/20-2 20/50-2 Pupils: 3 No RAPD 3 IOP: 20 19 EOM: Full Full

  4. Anterior and Posterior Segments OD OS Anterior segment: WNL OU ON: c/d 0.2 pink/sharp c/d 0.2 pink/sharp Macula: Cystic foveal lesion Cystic foveal lesion Vessels: WNL WNL Periphery:WNL WNL

  5. OCT OD OS

  6. OCT OD Parafoveal intra-retinal cavity extending to and involving the outer retina; irregularity of the ELM, focal discontinuity of the photoreceptor ellipsoid line and cone outer segment sheaths

  7. OCT OS Intra-retinal cystic foveal lesion extending to RPE with interruption of the photoreceptor outer segments.

  8. Fluorescein angiogram • OD: Mid A-V phase with leakage temporal to fovea.

  9. Fluorescein angiogram • OS: Temporal leakage and focal hyperfluorescence.

  10. Differential Diagnosis • Parafovealtelangiectasia • Non-Proliferative Diabetic Retinopathy • Stage 1 macular hole • Hypertensive retinopathy • Branch retinal vein occlusion

  11. Diagnosis Parafovealtelangiectasia

  12. Plan Follow up in 4-5 months.

  13. Parafoveal telangiectasia • Also known as idiopathic juxtafoveolar retinal telangiectasisor idiopathic macular telangiectasia • First described by Gassin 1968 • Initial classification in 1982 by Gass and Oyakawa • Heterogeneous group of disorders classified into 3 types with independent etiologies. • Prevalence of 0.1% per Beaver Dam Eye Study (2010)

  14. Pathophysiology • No actual telangiectasis – vessel wall thickening with eventual capillary dilatation (Green et al, 1980; Gasset al, 1982). • Metabolic alteration, endothelial permeability, nutritional deficiency  degeneration of the middle and outer retina. • Neural, Muller or endothelial cell etiology (Cohen etal,2007)? • Crystalline deposit – degenerated Muller footplates • Fluorescein leakage – loss of Muller-mediated barrier • Outer retinal atrophy – loss of Muller cell nutritional and mechanical support • Cystoid spaces of type 1 compared to 2, retinal vein occlusion, and diabetic macular edema (Oh et al, ePub ahead).

  15. MacTel Project (2005) • International consortium to study cause, natural history, progression and epidemiology • Resulted in multiple publications describing clinical findings, diagnostic methods, and epidemiology. • 27 candidate genes – None associated to MacTel(Parmalee et al, 2010). • Genome-wide linkage study (Parmalee et al, 2012): • Probable AD transmission with reduced penetrance and expressivity. • Linked to 1q41-42 (LOD 3.45)

  16. Pathophysiology • ATM was characterized in 1988 as the causal gene for ataxia telangiectasia (AT) • Chronic oxidative stress resulting in DNA damage activates ATM and leads to increased apoptotic activity. • Loss of ATM function leads to genome instability • Allelic variants noted in 13/30 macular telangiectasia, especially of European ancestry (Barbezetto, 2008). • 11/16 with polypoidalchoroidalvasculopathy or macular telangiectasia (Mauget-Faysee, 2003)

  17. Bevacizumab therapy for idiopathic macular telangiectasia type IIKovach and Rosenfeld, Retina. 2009 Jan;29(1):27-32 • Purpose: To determine if inhibition of VEGF-A affects visual acuity, fluorescein angiographic (FA), and optical coherence tomography (OCT) outcomes in patients with perifoveal telangiectasia (PT) type 2A. • Results: 9 eyes of 8 patients. After treatment, follow-up ranged from 4 to 27 months. • Non-proliferative - Mean BCVA remained stable (n = 4). • Proliferative - BCVA was unchanged or improved after treatment (n = 5). • All eyes demonstrated decreased intraretinal leakage on FA after an injection of bevacizumab, and eyes with proliferative PT showed decreased growth and leakage of the subretinal neovascularization. • The mean decrease in OCT central retinal thickness – 6 um non-proliferative; 26 um proliferative.

  18. Conclusions: IntravitrealAvastin • Non-proliferative PT: • Decreases fluorescein angiographic leakage in PT but has no short-term effect on visual acuity or OCT appearance. • Proliferative PT: • Arrests the leakage and growth of subretinal neovascularization with the possibility of visual acuity improvement.

  19. References • Oh, JH, et al. 2013. Characteristics of cystoid spaces in type 2 idiopathic macular telangiectasia on spectral domain OCT. Retina. [Epub ahead of print] • Wu, Evans, Arevalo. 2013. Idiopathic macular telangiectasia type 2. SurvOphthalmol, 58(6):536-59 • Mauget-Faysse, et al. 2003. Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene. Invest Ophthalmol Vis Sci. 44(8):3257-62. • Barbazetto IA, et al. 2008. ATM gene variants in patients with idiopathic perifoveal telangiectasia. Invest Ophthalmol Vis Sci, 49(9):3806-11. • Kovach and Rosenfeld. 2009.Bevacizumab therapy for idiopathic macular telangiectasia type II. Retina. Jan;29(1):27-3. • Sawsan, et al. 2010. Idiopathic juxtafoveolar telangiectasia: A current review. Middle East Afr J Ophthalmol, 17(3). • Yannuzzi et al. 2006. Idiopathic macular telangiectasia. JAMA Ophthalmol, 124(4):450-460. • Parmalee, et al. 2010. Analysis of candidate genes for macular telangiectasia type 2. Molecular Vision, 16:2718-26. • Parmalee, et al. 2012. Identification of a potential susceptibility locus for macular telangiectasia type 2. PLOS One, 7(8). • Cohen et al. 2007. Optical coherence tomography findings in nonproliferative group 2a juxtafoveal retinal telangiectasis. Retina, 27(1):59-66.

More Related