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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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  • 1. Doheny Eye Institute Grand Rounds Presenter Irina Bykhovskaya, MD Discussant SriniVas Sadda, MD 4/20/2007
  • 2. 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
  • 3. 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
  • 4. Fundus Photos Horizontal oval, slightly areolar zone of pigment epithelial atrophy in foveal area OU
  • 5. Red Free Fundus Photos
  • 6. Fluorescent Angiogram Window defects reveal absent choriocapillaries in the macula OU Hyperfluorescence at the lesion margins from dye leakage from intact choriocapillaries
  • 7. Central Areolar Choroidal Dystrophy
    • Rare Autosomal Dominant (rarely recessive, occasionally sporadic)
    • Pathology: atrophy of neuroepithelium, pigment epithelium
    • and part of the
    • choroid
  • 8. 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
  • 9. Copyright restrictions may apply. Keilhauer, C. N. et al. Arch Ophthalmol 2006;124:1020-1027. Clinical Findings
  • 10. 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
  • 11. 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
  • 12. 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
  • 13. Pathogenesis Hypothesis
    • Likely primary dystrophy of the choroidal vessels
    • Vs
    • Primary tapetochoroidal dystrophy or primary dystrophy of RPE with secondary choroidal involvement
  • 14. 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
  • 15. 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
  • 16. 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.

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