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Areolar Dystrophy

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 Areolar Dystrophy Presentation Transcript

    • Doheny Eye Institute Grand Rounds Presenter Irina Bykhovskaya, MD Discussant SriniVas Sadda, MD 4/20/2007
    • Patient Presentation
      • 31yo Vietnamese male with c/o gradual decrease in vision OU since adolescence
      • He has been using magnifying glass in the past 3 years for reading
      • FHx: mother and brother also with “visual problems”
      • PMH: h/o malaria 2 years ago treated with oral medications
      • SHx: recent immigrant from Vietnam
    • Patient Examination
      • VA: 8ft/200 OD and 6ft/200 OS
      • Pupils: RR, no RAPD
      • Ta 18 OU
      • LLL: wnl OU
      • S/C: w/q OU
      • K: clear OU
      • I: brown, flat OU
      • AC: d/q OU
      • L: 2+ PSC OU
    • Fundus Photos Horizontal oval, slightly areolar zone of pigment epithelial atrophy in foveal area OU
    • Red Free Fundus Photos
    • Fluorescent Angiogram Window defects reveal absent choriocapillaries in the macula OU Hyperfluorescence at the lesion margins from dye leakage from intact choriocapillaries
    • Central Areolar Choroidal Dystrophy
      • Rare Autosomal Dominant (rarely recessive, occasionally sporadic)
      • Pathology: atrophy of neuroepithelium, pigment epithelium
      • and part of the
      • choroid
    • Symptoms and Ophthalmoscopic Feautures
      • Gradual visual loss in one or both eyes
      • Onset: between 30 and 40 yo
      • Pigment stippling and mottling = pigment epithelial dystrophy 
      • RPE atrophy affect the whole macula
      • Patches of atrophy develop with frequent horseshoe shape around the fovea
      • Fovea is affected leading to
      • vision drop
    • Copyright restrictions may apply. Keilhauer, C. N. et al. Arch Ophthalmol 2006;124:1020-1027. Clinical Findings
    • FA Findings
      • Early cases:
      • - hyperfluorescence due to
      • RPE atrophy
      • Late stages:
      • - choriocapillaries and diffuse background hyperfluorescence disappear
      • - hyperfluorescence at lesion margins from dye leakage from intact choriocapillaries
      • - more choroidal vessels seen on FA than from ophthalmologic exam
    • Visual Functions
      • Visual Acuity
      • – severely affected (CF)
      • Visual Fields
      • – normal in the periphery with central or paracentral scotoma
      • Color Vision
      • – moderately affected
      • Dark Adaptation - normal
      • Electroretinography – normal full-field, abnormal multifocal
      • Electro-oculography – usually normal
    • Histology
      • Well-demarkated avascular zone in posterior choroid
      • Atrophy and fibrosis
      • No outer layers of retina or RPE corresponding to underlying choroidal atrophy
      • Usually no breaks in Bruch’s membrane
    • Pathogenesis Hypothesis
      • Likely primary dystrophy of the choroidal vessels
      • Vs
      • Primary tapetochoroidal dystrophy or primary dystrophy of RPE with secondary choroidal involvement
    • Differential Diagnosis
      • Pseudoinflammatory dystrophy – Sorsby
      • Choroideremia
      • Myopia gravior
      • Macular coloboma
      • Angioid streaks
      • Gyrate atrophy
      • Peripapillary and circinate choroidal dystrophy
      • End stages of Stargardt’s disease
      • Cone dystrophy
      • Progressive bifocal chorioretinal atrophy
      • Multifocal placoid pigment epitheliopathy
    • Mode of Inheritance
      • Autosomal Dominant
      • - mutation in the Peripherin/RDS gene on chromosome 6
      • - plays role in assembly, orientation, and structural stability of outer segment discs and accounts for an increased turnover of instable membranous segments
      • Autosomal Recessive
      • Sporadic
    • References
      • 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.
      • Hoyng CB, Deutman AF. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol. 1996;234:87-93.
      • 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.
      • 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.
      • 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.