Areolar Dystrophy

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  • What malarial medications did this patient have? Could that have been chloroquine/hydroxychloroquine toxicity? Whay hasn't that been discussed?
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Areolar Dystrophy

  1. 1. Doheny Eye Institute Grand Rounds Presenter Irina Bykhovskaya, MD Discussant SriniVas Sadda, MD 4/20/2007
  2. 2. Patient Presentation <ul><li>31yo Vietnamese male with c/o gradual decrease in vision OU since adolescence </li></ul><ul><li>He has been using magnifying glass in the past 3 years for reading </li></ul><ul><li>FHx: mother and brother also with “visual problems” </li></ul><ul><li>PMH: h/o malaria 2 years ago treated with oral medications </li></ul><ul><li>SHx: recent immigrant from Vietnam </li></ul>
  3. 3. Patient Examination <ul><li>VA: 8ft/200 OD and 6ft/200 OS </li></ul><ul><li>Pupils: RR, no RAPD </li></ul><ul><li>Ta 18 OU </li></ul><ul><li>LLL: wnl OU </li></ul><ul><li>S/C: w/q OU </li></ul><ul><li>K: clear OU </li></ul><ul><li>I: brown, flat OU </li></ul><ul><li>AC: d/q OU </li></ul><ul><li>L: 2+ PSC OU </li></ul>
  4. 4. Fundus Photos Horizontal oval, slightly areolar zone of pigment epithelial atrophy in foveal area OU
  5. 5. Red Free Fundus Photos
  6. 6. Fluorescent Angiogram Window defects reveal absent choriocapillaries in the macula OU Hyperfluorescence at the lesion margins from dye leakage from intact choriocapillaries
  7. 7. Central Areolar Choroidal Dystrophy <ul><li>Rare Autosomal Dominant (rarely recessive, occasionally sporadic) </li></ul><ul><li>Pathology: atrophy of neuroepithelium, pigment epithelium </li></ul><ul><li>and part of the </li></ul><ul><li>choroid </li></ul>
  8. 8. Symptoms and Ophthalmoscopic Feautures <ul><li>Gradual visual loss in one or both eyes </li></ul><ul><li>Onset: between 30 and 40 yo </li></ul><ul><li>Pigment stippling and mottling = pigment epithelial dystrophy  </li></ul><ul><li>RPE atrophy affect the whole macula </li></ul><ul><li>Patches of atrophy develop with frequent horseshoe shape around the fovea </li></ul><ul><li>Fovea is affected leading to </li></ul><ul><li>vision drop </li></ul>
  9. 9. Copyright restrictions may apply. Keilhauer, C. N. et al. Arch Ophthalmol 2006;124:1020-1027. Clinical Findings
  10. 10. FA Findings <ul><li>Early cases: </li></ul><ul><li>- hyperfluorescence due to </li></ul><ul><li>RPE atrophy </li></ul><ul><li>Late stages: </li></ul><ul><li>- choriocapillaries and diffuse background hyperfluorescence disappear </li></ul><ul><li>- hyperfluorescence at lesion margins from dye leakage from intact choriocapillaries </li></ul><ul><li>- more choroidal vessels seen on FA than from ophthalmologic exam </li></ul>
  11. 11. Visual Functions <ul><li>Visual Acuity </li></ul><ul><li>– severely affected (CF) </li></ul><ul><li>Visual Fields </li></ul><ul><li>– normal in the periphery with central or paracentral scotoma </li></ul><ul><li>Color Vision </li></ul><ul><li>– moderately affected </li></ul><ul><li>Dark Adaptation - normal </li></ul><ul><li>Electroretinography – normal full-field, abnormal multifocal </li></ul><ul><li>Electro-oculography – usually normal </li></ul>
  12. 12. Histology <ul><li>Well-demarkated avascular zone in posterior choroid </li></ul><ul><li>Atrophy and fibrosis </li></ul><ul><li>No outer layers of retina or RPE corresponding to underlying choroidal atrophy </li></ul><ul><li>Usually no breaks in Bruch’s membrane </li></ul>
  13. 13. Pathogenesis Hypothesis <ul><li>Likely primary dystrophy of the choroidal vessels </li></ul><ul><li>Vs </li></ul><ul><li>Primary tapetochoroidal dystrophy or primary dystrophy of RPE with secondary choroidal involvement </li></ul>
  14. 14. Differential Diagnosis <ul><li>Pseudoinflammatory dystrophy – Sorsby </li></ul><ul><li>Choroideremia </li></ul><ul><li>Myopia gravior </li></ul><ul><li>Macular coloboma </li></ul><ul><li>Angioid streaks </li></ul><ul><li>Gyrate atrophy </li></ul><ul><li>Peripapillary and circinate choroidal dystrophy </li></ul><ul><li>End stages of Stargardt’s disease </li></ul><ul><li>Cone dystrophy </li></ul><ul><li>Progressive bifocal chorioretinal atrophy </li></ul><ul><li>Multifocal placoid pigment epitheliopathy </li></ul>
  15. 15. Mode of Inheritance <ul><li>Autosomal Dominant </li></ul><ul><li>- mutation in the Peripherin/RDS gene on chromosome 6 </li></ul><ul><li>- plays role in assembly, orientation, and structural stability of outer segment discs and accounts for an increased turnover of instable membranous segments </li></ul><ul><li>Autosomal Recessive </li></ul><ul><li>Sporadic </li></ul>
  16. 16. References <ul><li>K. Zhang, D.C. Garabaldi, R.E. Carr and J.S. Sunness , Hereditary choroidal disease. In: S.J. Ryan, Editor, Retina (3rd ed.), Mosby, St. Louis (2001), pp. 462–463. </li></ul><ul><li>Hoyng CB, Deutman AF. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol. 1996;234:87-93. </li></ul><ul><li>Castori M, Valente EM, Maurizio C, Tormene AP, Brancati F, Caputo V, Dallapiccola B. A Novel Locus for Autosomal Dominant Cone and Cone–Rod Dystrophies Maps to the 6p Gene Cluster of Retinal Dystrophies. Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3539-44. </li></ul><ul><li>Keilhauer CN, Meigen T, Weber BH. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol. 2006 Jul;124(7):1020-7. </li></ul><ul><li>Nagasaka K, Horiauchi M, Shimada Y, Yuzawa M. Multifocal electroretinograms in cases of central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1673-9. </li></ul>

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