Blue Cone Monochromacy and Achromatopsia Overview And
Total Page:16
File Type:pdf, Size:1020Kb
Overview and Vision Aids for BlueBlue ConeCone MonochromacyMonochromacy andand AchromatopsiaAchromatopsia DeanDean MontheiMonthei AprilApril 20182018 WhatWhat WeWe WillWill CoverCover ● MyMy historyhistory ● BlueBlue ConeCone MonochromacyMonochromacy (BCM)(BCM) andand AchromatopsiaAchromatopsia (A)(A) ● GeneticGenetic inheritanceinheritance andand therapiestherapies ● VisionVision aidsaids ● FutureFuture ● SupplementalSupplemental InfoInfo “Click here” indicates active links MyMy HistoryHistory ● PoorPoor visionvision andand colorblindcolorblind sincesince birthbirth ● AcuityAcuity 20/20020/200 ● EngineerEngineer forfor 3434 yearsyears ● TraveledTraveled toto 1212 countriescountries forfor workwork ● DiagnosedDiagnosed asas BCMBCM inin 20172017 BCMBCM andand AA ● NormalNormal VisionVision –Rods,Rods, blue,blue, green,green, redred conescones ● BCMBCM –Rods,Rods, blueblue conescones ● AA –RodsRods onlyonly GeneticGenetic InheritanceInheritance ● BCMBCM X-LinkedX-Linked -- MotherMother toto sonson DominantDominant onlyonly inin malesmales ● AA BothBoth parentsparents areare carrierscarriers DominantDominant inin malesmales andand femalesfemales GeneticGenetic MutationsMutations ● BCMBCM -- Xq28Xq28 genegene ● AA -- CNGA3,CNGA3, CNGB3,CNGB3, GNAT2,GNAT2, PDE6CPDE6C ● AGTCAGTC workingworking onon geneticgenetic treatmentstreatments Click here for AGTC Corp Video Casey Eye Institute tests for BCM and A $500/$1000 Click here for details Click for free genetic test info at http://www.blueconemonochromacy.org/ Click here for more details about the genetic defects of BCM and A BirthBirth RatesRates BCMBCM –– 11 inin 100,000100,000 birthsbirths AA –– 11 inin 30,00030,000 birthsbirths Geographic Blue Cone Region Monochromacy Achromatopsia Portland Metro 25 75 USA 3,250 11,000 World 76,000 250,000 SymptomsSymptoms CommonCommon toto BothBoth BCMBCM andand AA ● PoorPoor acuityacuity 20/6020/60 toto 20/20020/200 ● SeverelySeverely colorblindcolorblind ● PhotophobiaPhotophobia ● HighHigh MyopiaMyopia (BCM),(BCM), HyperopiaHyperopia (A)(A) ● NystagmusNystagmus mainlymainly asas infantsinfants BCM and A are generally stable conditions Note: Severity of symptoms varies ColorColor BCM VisionVision Red Blind NORMAL Rods and Blue cones ACHROMATOPSIA CIE Chromaticity Diagram Printing, Photography, Monitors, TV Rods only Click Here for Details Horrible:Horrible: Red/BlackRed/Black MixMix TreadmillTreadmill Displays,Displays, SignsSigns etc.etc. Red on Black What I See Grayscale Display Helps VisionVision AidsAids Reading My Most Used Vision Aids Short Text Distance and Closeup Reading From Small Text & Phone Distance For Computer Use - Windows Full Screen Magnifier Detail Work Hobbies TV, Signs, Phone PC Magazines, Books BauschBausch andand LombLomb MagnifierMagnifier (part#(part# 813133)813133) Stack 2 for higher power Walmart $8 - Click here My most important vision aid Amazon $11 – Click here (monocular is #2) GenericGeneric ReadingReading GlassesGlasses OptionsOptions NoNo BatteriesBatteries // Hands-FreeHands-Free ~$60 ~$60 COIL Readers up to +14 diopter – Click here for details $140-$600 ~$8 Click here glasses to 12X / +48 Diopter magnifyingaids.com Source 2 Click Here - Low Cost - Click here to search Mattingly Low Vision for jeweler's clip-on loupes HighHigh PowerPower Non-PrismaticNon-Prismatic BifocalBifocal +2 Diopter +15 Diopter Can be made with a different power in each eye (may not be available as safety glasses) OcutechOcutech BiopticBioptic NotNot JustJust forfor DrivingDriving 4K TV Looks Great 5X5X (6 Feet from 65” TV) ~$2000~$2000 Read smallest print on iPhone at arm’s-length Read magazines/books Hands-free No Batteries LowLow CostCost TVTV GlassesGlasses ~2X $17 COIL version $90 Click here Click here High contrast sharp image Good for subtitles Better quality image than electronic mag Can’t use with glasses ADLENSADLENS GlassesGlasses forfor CataractCataract PatientsPatients (Patient(Patient cancan adjustadjust fromfrom +3+3 toto –6–6 dioptersdiopters eacheach eyeeye separately)separately) ~$20~$20 AdjusterAdjuster Alvarez Dual Lens Technology Click here for ADLENS on Amazon CloseClose FocusFocus MonocularsMonoculars (no(no batteries)batteries) Walters brand monoculars - click here Carson 7X Close-Focus $15 ~$70-$200 Small size – click here High eye point Carson 7X Close-Focus ~$55 wide field of view - good with glasses on - Click here CompactCompact 15X-55X15X-55X ZoomingZooming MonocularMonocular ~$15~$15 Click here Focus to 6 ft. Hold steady by bracing hand against head while holding scope ElectronicElectronic GlassesGlasses ForFor “Low“Low Vision”Vision” SeeBOOST ~$3,500 Sam at "The Blind Life" You 1.4-7.0X digital zoom Tube Channel Click Here eSight ~$10,000 24X digital zoom Jordy Glasses ~$3,600 ~20-30X optical zoom All have Field of View (FOV) ~30-40 degrees NuEyesNuEyes ● UsesUses ODGODG ARAR glassesglasses ● 12X12X ZoomZoom ● VoiceVoice ControlControl Computer Camera ● ~$6000~$6000 6060 degreedegree FOVFOV IrisVisionIrisVision CustomCustom GalaxyGalaxy S7S7 smartphonesmartphone andand GearVRGearVR headhead setset ~$2500~$2500 ClickClick forfor IrisVisionIrisVision videovideo ClickClick herehere forfor IrisVisionIrisVision websitewebsite 70 Degree Bubble Mag Line Mag Field of View View View ““SuperVisionSuperVision forfor Cardboard”Cardboard” AppApp LowLow CostCost AlternativeAlternative toto IrisVisionIrisVision Click here for website ● SoftwareSoftware isis freefree ● NotNot allall VRVR headsetsheadsets workwork Zoom, Color, UtopiaUtopia 360360 -- ClickClick herehere etc. Switch ● iOSiOS andand AndroidAndroid ● NotNot allall phonesphones workwork Cover slides open to expose camera Controller – MustMust havehave gyroscopegyroscope ClickClick herehere forfor videovideo MinimalistMinimalist OpenOpen VRVR HeadsetsHeadsets $15 $10 $10 Looks weird / Works great Click here Click here Click here Use with eye glasses Use separate magnet to trigger “SuperVision for Cardboard” controls or press In the top center of the screen to “select” No Google Cardboard magnetic switch but usable with “Nearsighted”, “Claro MagVR”, “SuperVision+ for Goggles” where you can zoom by touching the screen ElectronicElectronic MagnifiersMagnifiers “Max” $200 AV out Click here for details to TV or monitor ~$130 $180($200) ZoomText Webcam Click here for similar products Click here CamcordersCamcorders AsAs LowLow CostCost ElectronicElectronic MagnifiersMagnifiers ● CanonCanon CamcorderCamcorder VIXIAVIXIA HF800HF800 $220$220 Click here – 57X57X zoomzoom (optical(optical 32X)32X) – HDMIHDMI andand AVAV outout – UseUse closeclose focusfocus glassesglasses toto viewview fromfrom 3”3” – SharperSharper atat highhigh magmag thanthan phone/tabletphone/tablet – FocusFocus 20”20” toto infinityinfinity NikonNikon COOLPIXCOOLPIX B700B700 WithWith ViewfinderViewfinder MagnifierMagnifier B700 60X $450 B500 40X $275 Photo taken with 3.4X Lens this camera 60X Optical Zoom $$23 Viewfinder - Click here Disable eye sensor or large display shuts off HDMI Out only for recordings Great as a high power electronic monocular Does not focus close for reading iPhone’siPhone’s iOSiOS 1111 VisionVision AidsAids ● FiltersFilters –– GrayscaleGrayscale (for(for Red)Red) ● MagnifierMagnifier ● SmartSmart InvertInvert ● VoiceOverVoiceOver –– ReadsReads aloudaloud (Android(Android TalkBack)TalkBack) ● CameraCamera ZoomZoom ++ ScreenScreen ZoomZoom ● LargerLarger TextText Triple click “Home” button for menu iPhoneiPhone andand AndroidAndroid MagMag AppsApps ● SuperVision+SuperVision+ (Click(Click forfor Video)Video) ● "Brighter"Brighter andand Bigger"Bigger" (Click(Click forfor Info)Info) – Zoom,Zoom, Contrast,Contrast, andand BrightnessBrightness ● iPhoneiPhone built-inbuilt-in MagnifierMagnifier Magnify signs from a distance and change colors Airport Arrival/Departure signs AvoidAvoid MagMag AppsApps WithWith “Tap“Tap toto Zoom”Zoom” EspeciallyEspecially AndroidAndroid ● SlideSlide toto zoomzoom preferredpreferred ● SystemSystem screenscreen zoomzoom isis tripletriple taptap ● TappingTapping willwill accidentallyaccidentally zoomzoom thethe screenscreen makingmaking controlscontrols disappeardisappear offoff screenscreen edgeedge OtherOther VisionVision AppsApps (click(click itemsitems forfor info)info) “KNFB Reader” $99 Text to speech “Seeing AI” Free “EasyReader” Object I.D. Cost varies Color I.D. Search for “low vision”, “blind”, and “colorblind” on app store or Google play store LargeLarge ScientificScientific CalculatorCalculator onon FireHDFireHD Large dedicated scientific calculator $300-$600 FireHD is ~$80 calculator program is free CellCell PhonePhone andand TabletTablet 9090°° AngleAngle ViewerViewer andand StandStand Click Here for Link ~$10 Click Here for Link to Stand ~$15 Could use together in classroom to see the board BigBig Tip!Tip! Prepaid phones work as dedicated magnifiers Never activate = no monthly charges $65 (13MP) to $130 (16MP) Samsung Galaxy S5 has gyroscope sensor for “Supervision for Cardboard” (Click here) FreeFree ComputerComputer SoftwareSoftware ● UseUse “Dark“Dark Themes”Themes” (YouTube,(YouTube, etc.)etc.) FreeFree Standard Dark Theme Theme ● WindowsWindows MagnifierMagnifier fullfull screenscreen (Click(Click here)here) – IncludesIncludes invertinvert colorscolors ● InIn manymany WindowsWindows programsprograms cntrl+mousecntrl+mouse scrollscroll willwill zoomzoom withinwithin thethe windowwindow Click here for YouTube videos on Dark Themes for phones and PCs FastCap Red $7 SG-AF-R510 ColorColor FiltersFilters Safety Glasses Click here ● ColorColor