Unknown - White Spots Periphery - Recurrent CME - Maybe Retinitis Pigmentosa without Pigment
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46-year-old woman was seen in the office on January 23, 2012. She has a family history of retinitis pigmentosa. There is five children all together and to her knowledge three of her siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. Previous to that the vision was good and she notices a dark spot in the central vision over the last few weeks, more in the left eye than the right eye. She does notice some problem with glare. She was skiing the other day and had some difficulty functioning and her night vision has been not quite right for sometime. She has not had a peripheral vision test for a while and you noticed on a retinal scan recently her maculae are abnormal. Also she had a peripheral iridotomy laser back in 1993 for shallow angles.
VISUAL ACUITY: OD 20/40, OS 20/50. IOP: OD 11, OS 13. The anterior chamber is shallow in both eyes and she has peripheral iridotomies. She has 2+ nuclear sclerotic cataracts.
EXTENDED OPHTHALMOSCOPY:
OD: Vertical C/D ratio is 0.3. There is no posterior vitreous separation. The fovea looks irregular. There are unusual looking white spots in the mid periphery, which radiate out and look to be superficial, in fact some of them are in front of the retinal vessels.
OS: Vertical C/D ratio is 0.3. There is no posterior vitreous separation. The macula looks irregular. Again, there is some superficial white spots radiating out in the periphery, but again they look to be in front of the retinal vessels. Her nerves are not pale and her retinal arteries are only minimally attenuated. Photos confirm clinical findings.
SPECTRALIS-SD-OCT SCAN: The OCT scan shows macular edema in both eyes with a serous macular detachment in the left eye. There are intraretinal cysts and retinal atrophy in the far periphery. The OCT scan does show atrophy of the outer retina.
FLUORESCEIN ANGIOGRAPHY: Fluorescein angiography shows hyperfluorescence in a pattern consistent with retinitis pigmentosa variance, where there is sparing of the central macula with increased hyperfluorescence in the periphery.
FUNDUS AUTO FLUORESCENCE: The fundus auto fluorescence images show patches of hypo auto fluorescence, predominately in the superior periphery with some hyper auto fluorescence around the macula in the mid periphery.
IMPRESSION:
1. RETINAL DYSTROPHY – BOTH EYES WITH WHITE FLECKS
2. POSSIBLE RETINITIS PUNCTATA ALBESCENS
3. FAMILY HISTORY OF RETINITIS PIGMENTOSA
DISCUSSION: I explained to the patient with her strong family history of retinitis pigmentosa, even though she has no pigment spots in the eye, she does have areas of retinal atrophy and geographic characteristics consistent with a retinal dystrophy and I think it would be reasonable for her to consider at least blood testing, if not a electroretinogram or both. I have given her information on the Carver Lab out in Iowa, in addition she may go to Bascom Palmer for further evaluation. In the meantime to treat her macular edema, I started her on Diamox 500 mg twice a day, which does work in retinitis dystrophic macular edema. Also topical angiotensin converting enzyme inhibitor will help it if she has trouble tolerating the systemic ones and I asked her to return for a check in one months or sooner if she should notice a problem.
As of 2/3/13, Patient initially responded to oral and topical ACE inhibitors, but then broke through therapy and required posterior subtenon's kenalog injections to clear edema in the right eye: 6/7/12, 12/17/12, and 1/23/13; left eye 7/5/12
Genetic testing from Carver Lab was negative for 16 genes previously associated with AR RP (ARRP,ABCA4, CERKL, CNGA1, CRB1, CHDDS, EYS, LRAT, MAK, NR2E3, PDE6B, RDH12, RLBP1, RPE65, SAG, TULP1, and USH2A.
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME850 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME813 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME732 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME887 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME693 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME751 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME793 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME654 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME702 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME713 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FAF678 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FAF790 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FAF655 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FAF704 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME591 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME596 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME625 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME619 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early697 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early650 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early642 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early768 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA MID800 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA MID614 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA MID683 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA MID638 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA LATE661 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME- FA LATE621 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early577 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early642 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early636 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early668 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early598 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME - FA Early591 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME560 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME645 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME612 views46-year-old woman three of her 5 siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. OD 20/40, OS 20/50. IOP: Both eyes have CME
(0 votes)
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME614 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME550 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME681 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME605 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME592 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME587 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME624 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME692 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME582 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME656 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME530 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME562 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME634 viewsCME worse - patient received subtenon's kenalog injection right eye.
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME764 viewsCME worse - patient received subtenon's kenalog injection right eye.
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME762 viewsSubtenon's Kenlalog given right eye today.
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME832 viewsSubtenon's Kenlalog given right eye today.
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME689 viewsComparison of Maps - CME is now cleared
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME784 viewsComparison of Maps - CME is now cleared
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46-year-old woman was seen in the office on January 23, 2012. She has a family history of retinitis pigmentosa. There is five children all together and to her knowledge three of her siblings have been diagnosed with retinitis pigmentosa. Her mother and father were seen and as far as everyone can tell, neither of them has it, although there was some thought they might be carriers. They were evaluated twenty five years ago and since then as far as she knows, there has not been a lot of testing done.
She has noticed a substantial decline in vision in both eyes over the last month or two. Previous to that the vision was good and she notices a dark spot in the central vision over the last few weeks, more in the left eye than the right eye. She does notice some problem with glare. She was skiing the other day and had some difficulty functioning and her night vision has been not quite right for sometime. She has not had a peripheral vision test for a while and you noticed on a retinal scan recently her maculae are abnormal. Also she had a peripheral iridotomy laser back in 1993 for shallow angles.
VISUAL ACUITY: OD 20/40, OS 20/50. IOP: OD 11, OS 13. The anterior chamber is shallow in both eyes and she has peripheral iridotomies. She has 2+ nuclear sclerotic cataracts.
EXTENDED OPHTHALMOSCOPY:
OD: Vertical C/D ratio is 0.3. There is no posterior vitreous separation. The fovea looks irregular. There are unusual looking white spots in the mid periphery, which radiate out and look to be superficial, in fact some of them are in front of the retinal vessels.
OS: Vertical C/D ratio is 0.3. There is no posterior vitreous separation. The macula looks irregular. Again, there is some superficial white spots radiating out in the periphery, but again they look to be in front of the retinal vessels. Her nerves are not pale and her retinal arteries are only minimally attenuated. Photos confirm clinical findings.
SPECTRALIS-SD-OCT SCAN: The OCT scan shows macular edema in both eyes with a serous macular detachment in the left eye. There are intraretinal cysts and retinal atrophy in the far periphery. The OCT scan does show atrophy of the outer retina.
FLUORESCEIN ANGIOGRAPHY: Fluorescein angiography shows hyperfluorescence in a pattern consistent with retinitis pigmentosa variance, where there is sparing of the central macula with increased hyperfluorescence in the periphery.
FUNDUS AUTO FLUORESCENCE: The fundus auto fluorescence images show patches of hypo auto fluorescence, predominately in the superior periphery with some hyper auto fluorescence around the macula in the mid periphery.
IMPRESSION:
1. RETINAL DYSTROPHY – BOTH EYES WITH WHITE FLECKS
2. POSSIBLE RETINITIS PUNCTATA ALBESCENS
3. FAMILY HISTORY OF RETINITIS PIGMENTOSA
DISCUSSION: I explained to the patient with her strong family history of retinitis pigmentosa, even though she has no pigment spots in the eye, she does have areas of retinal atrophy and geographic characteristics consistent with a retinal dystrophy and I think it would be reasonable for her to consider at least blood testing, if not a electroretinogram or both. I have given her information on the Carver Lab out in Iowa, in addition she may go to Bascom Palmer for further evaluation. In the meantime to treat her macular edema, I started her on Diamox 500 mg twice a day, which does work in retinitis dystrophic macular edema. Also topical angiotensin converting enzyme inhibitor will help it if she has trouble tolerating the systemic ones and I asked her to return for a check in one months or sooner if she should notice a problem.
As of 2/3/13, Patient initially responded to oral and topical ACE inhibitors, but then broke through therapy and required posterior subtenon's kenalog injections to clear edema in the right eye: 6/7/12, 12/17/12, and 1/23/13; left eye 7/5/12
Genetic testing from Carver Lab was negative for 16 genes previously associated with AR RP (ARRP,ABCA4, CERKL, CNGA1, CRB1, CHDDS, EYS, LRAT, MAK, NR2E3, PDE6B, RDH12, RLBP1, RPE65, SAG, TULP1, and USH2A.
