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 Photo763 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photo635 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photo672 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photo661 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Fundus Photo638 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared574 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared508 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared579 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared529 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared495 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared507 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared550 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared496 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared495 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Infrared603 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Autofluorescence542 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - Autofluorescence561 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age- SD OCT652 views 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 votes)
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Retinitis Pigmentosa - Autosomal Dominant - Vision Loss at Young Age - SD OCT654 views 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 votes)
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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.
