Retina Imaging Conference · Retina Imaging Conference Jinghua Chen, MD, PhD University of...
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Retina Imaging Conference
Jinghua Chen, MD, PhD
University of Louisville
Department of Ophthalmology and Visual Sciences
February 5, 2015
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HistoryCC: Blurred vision OD for five months.
HPI: 40 year old African American Female complained of
blurred vision in OD for 5 months. She denied eye pain, flashes, floaters, headache, jaw
claudication, temporal tenderness.
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Past Medical HistoryPOH: Primary open angle glaucoma
NIDDM without diabetic retinopathy PMH: HTN, NIDDM, anxiety, depression, arthritisAllergy: Lisinopril, LatexFH: Mom was blind due to glaucomaSurgeries: Splenectomy, tubal ligation, knee surgeryMedication: Timolol, HCTZ, losartan, cyanocobalamin,
ferrous sulfate, fluticasone, xorelto, cymbolta, citalopram
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ExamOD OS
BCVA: 20/40 20/40Refraction -1.75+0.75 ×130 -1.25+0.75×90 Pupils: 42 42RAPD: Negative OUIOP: 17 14EOM and CVF: Full OUAnterior segment: Normal OU
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Fundus Photos
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Auto Fluoresence Photos
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FA Photos
14s 20s15s
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32s 46s
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Spectral Domain OCT OD
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Spectral Domain OCT OS
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Central 24-2 Threshold Test 2012
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Diagnosis and DifferentialsAssessment:
40 year old African American Female complained of blurred vision in OD for 5 months.
Diagnosis: FundoscopyFAFundus autofluorescenceOCT
Impression: Stargardt’s DiseaseDifferential Diagnosis
1) Fundus albipunctatus2) Fundus flavimaculatus (a milder condition)3) Familial drusen 4) Fleck retina of Kandori5) Retinitis punctata albescens6) Alport's syndrome7) Tamoxifen or Canthaxanthin
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Incidence and Epidemiology
of Stargardt Disease The most common childhood recessively inherited macular dystrophy. It was first described by German ophthalmologist Karl Stargardt, in 1909. 7% of all retinal degenerations, grossly affecting 1 per 10.000 individuals. STGD is an autosomal-recessively inherited condition often associated with
mutations in ABCA4. Autosomal dominant forms have been reported. ABCA4 (1p21-p23) gene mutation (Autosomal recessive), which encodes an
ATP-binding cassette (ABC) transporter protein expressed by rod and cone disc membrane and is involved in the transport of vitamin A derivatives to RPE. (ABCA4 also have been implicated in cone dystrophy, cone-rod dystrophy, and ‘‘retinitis pigmentosa.’’)
Other phenotype: 1p21-p22 (STGD1), 4p(STGD4), 6q14(STGD3) and ELOVL4, which encodes a phtoreceptor-specific component of the fatty acid elongation system
http://eyewiki.aao.org/Stargardt_disease/Fundus_flavimaculatus
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PAS stain discloses hypertrophic RPE cells with PAS positive cytoplasmicgranules containing lipofuscin-retinal flecks.
In advanced stages of Stargardt disease, geographic RPE atrophy with loss of the photoreceptor cell layer may be observed.
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Choroidal Hyperreflective Foci in Stargardt Disease
The mean numbers of hyperreflective foci in each retinal/choroidal layer in decreasing frequency were as follows: Bruch membrane/retinal pigment epithelial (RPE) complex,
78.22 (24.39); Choriocapillaris, 25.77 (17.57); Sattler layer, 18.59 (12.89); Outer retina, 16.64 (6.96); Inner retina, 0.95 (1.58); Haller layer, 0.73 (0.87).
Piri N, Nesmith BL, Schaal S. JAMA Ophthalmol. 2015 Jan 15
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Disease Course Slowly progressive 50% have at least 20/40 VA in one eye by age 19 22% have 20/40 vision by age 39 After age 40 more rapid progression to 20/200 -counting fingers
Fujinami K, Zernant J, Chana RK, et al. Ophthalmology. 2015 Feb;122(2):326-34.
Westeneng-van Haaften SC, Boon CJ, Cremers FP, et al. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 2012 Jun;119(6):1199-210.
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Developing macular flecks
Central atrophy with no visible flecks at baseline (fundus grade 3a), with AF imaging showing a localized low AF signal surrounded by subtle foci of high AF signal at the macula .
Six years later, there are marked and increased macular flecks, also clearly seen on AF imaging .
Fujinami K, Zernant J, Chana RK, et al. Ophthalmology. 2015 Feb;122(2):326-34.
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Clinical Polymorphism of Stargardt Disease
Polymorphism of Stargardt Disease; El Matri et al 2003
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Autofluorescence images of One Stargardt patients
Spread of hyperautofluorescent fleck lesions in a centrifugal “wave” centered on the fovea.
Arch Ophthalmol. 2012 February ; 130(2): 171–179.
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Management
Gene screening and genetic consult (ABCA4 genotyping microarray; arrayed primer extension (APEX) technology)
Gene therapy of ABCA4-Associated Diseases Stem cell therapy: transfected modified mRNA in
human embryonic stem cell-derived RPE cells.
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References BSCS 2014-2015 Book 12, Retina and Vitreous: 234-236 Piri N, Nesmith BL, Schaal S.Choroidal Hyperreflective Foci in Stargardt Disease Shown by
Spectral-Domain Optical Coherence Tomography Imaging: Correlation With Disease Severity. JAMA Ophthalmol. 2015 Jan 15
Allikmets R, Singh N, Sun H, et al. A photoreceptor cellspecific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236–246.
Michaelides M, Chen LL, Brantley MA Jr, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull’s-eye maculopathy. Br J Ophthalmol. 2007; 91:1650–1655.
Fujinami K, Zernant J, Chana RK, et al. Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease.Ophthalmology. 2015 Feb;122(2):326-34.
El Matri L, Ouechtati F, Chebil A, et al. Clinical polymorphism of stargardt disease in a large consanguineous tunisian family; implications for nosology. J Ophthalmic Vis Res. 2013 Oct;8(4):341-50.
Catherine A. Cukras, Wai T. Wong, Rafael Caruso, et al. Centrifugal Expansion of Fundus Autofluorescence Patterns in Stargardt Disease Over Time Arch Ophthalmol. 2012 February ; 130(2): 171–179.
Auricchio A, Trapani I, Allikmets R. Gene Therapy of ABCA4-Associated Diseases Cold Spring Harb Perspect Med. 2015 Jan 8.
Magnus L. Hansson, Silvia Albert, et al. Efficient delivery and functional expression of transfectedmodified mRNA in human Embryonic Stem Cell-derived Retinal Pigmented Epithelial cells. J BiolChem. 2015 Jan 2.
Westeneng-van Haaften SC, Boon CJ, Cremers FP, et al. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 2012 Jun;119(6):1199-210.