Retinitis Pigmentosa - Autosomal Dominant
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54-year-old woman was seen in the office on September 27, 2012. She has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She was on vitamin A sometime ago, but not anymore and then she was on Valproic acid as a trial, but she is not on that anymore either. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160. IOP: 14 OU.
SLIT EXAMINATION: The posterior chamber intraocular lens is in good position in both eyes. The left eye had some ciliary deposits on the lens and a 2+ posterior capsular opacity.
EXTENDED OPHTHALMOSCOPY:
OD: Vertical C/D ratio is 0.0. There is a partial posterior vitreous separation. There are blunt spicules throughout the periphery. The optic nerve looks pale. There is also optic nerve drusen.
OS: Vertical C/D ratio is 0.0. There is a partial posterior vitreous separation. There is a vitreous opacity over the nerve. There is 1+ optic nerve drusen. There are blunt spicules throughout the periphery and in the macula.
FUNDUS PHOTOGRAPHY: Infrared and auto fluorescence photography shows the presence of hypo auto fluorescence centrally in an area where there is some intact retinal pigment epithelium and then mostly hyper auto fluorescence throughout the periphery in both eyes. The photos show the bone spicules.
SPECTRALIS-SD-OCT SCAN: The OCT scan shows retinal atrophy.
IMPRESSION:
1. RETINITIS PIGMENTOSA AUTOSOMAL DOMINANT
DISCUSSION: I explained to the patient at the moment there has been successful gene therapy for libra congenital amaurosis and there are also some trials underway for Stargardt’s and there may very well be trials starting for her type of autosomal dominant retinitis pigmentosa. I have one of my staff contact her to send blood off to Carver Lab in Iowa and see if she and her family can get entered in the data base, so if there is a trial, they will be eligible if they have a genetic defect, which may ultimately be treatable. I asked her to return for a check and to see you periodically.
I told her she does not need to return here. In the meantime the flashes of photopsia she is experiencing are not uncommon in patients with retinal diseases that are non specific and I told her that in the absence of substantial vision change, she doesn’t need to see me back.
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photovista 670 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photovista 557 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photovista 620 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photovista 606 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photovista 565 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 518 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 467 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 543 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 495 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 458 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 449 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 505 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 465 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 471 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infraredvista 555 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Autofluorescencevista 521 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Autofluorescencevista 527 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age- SD OCTvista 582 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - SD OCTvista 603 veces 54-year-old woman has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160
(0 votos)
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54-year-old woman was seen in the office on September 27, 2012. She has autosomal dominant retinitis pigmentosa. Her mother and grandmother both had it and she has one son who has it and one daughter who doesn’t. She also has a sister with it. She lost vision since she was younger. She was on vitamin A sometime ago, but not anymore and then she was on Valproic acid as a trial, but she is not on that anymore either. She had cataract surgery done in January and February of this year. She has been seeing unusual flashing lights throughout the periphery and central vision for about the last year or two.
VISUAL ACUITY: OD 20/160, OS 20/160. IOP: 14 OU.
SLIT EXAMINATION: The posterior chamber intraocular lens is in good position in both eyes. The left eye had some ciliary deposits on the lens and a 2+ posterior capsular opacity.
EXTENDED OPHTHALMOSCOPY:
OD: Vertical C/D ratio is 0.0. There is a partial posterior vitreous separation. There are blunt spicules throughout the periphery. The optic nerve looks pale. There is also optic nerve drusen.
OS: Vertical C/D ratio is 0.0. There is a partial posterior vitreous separation. There is a vitreous opacity over the nerve. There is 1+ optic nerve drusen. There are blunt spicules throughout the periphery and in the macula.
FUNDUS PHOTOGRAPHY: Infrared and auto fluorescence photography shows the presence of hypo auto fluorescence centrally in an area where there is some intact retinal pigment epithelium and then mostly hyper auto fluorescence throughout the periphery in both eyes. The photos show the bone spicules.
SPECTRALIS-SD-OCT SCAN: The OCT scan shows retinal atrophy.
IMPRESSION:
1. RETINITIS PIGMENTOSA AUTOSOMAL DOMINANT
DISCUSSION: I explained to the patient at the moment there has been successful gene therapy for libra congenital amaurosis and there are also some trials underway for Stargardt’s and there may very well be trials starting for her type of autosomal dominant retinitis pigmentosa. I have one of my staff contact her to send blood off to Carver Lab in Iowa and see if she and her family can get entered in the data base, so if there is a trial, they will be eligible if they have a genetic defect, which may ultimately be treatable. I asked her to return for a check and to see you periodically.
I told her she does not need to return here. In the meantime the flashes of photopsia she is experiencing are not uncommon in patients with retinal diseases that are non specific and I told her that in the absence of substantial vision change, she doesn’t need to see me back.
