Most viewed - Dystrophies
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Cone Dystrophy - Autosomal Recessive497 views74 year old man with 20/25 vision OD and subtle bull's eye on FAF. Left eye is 20/200 with atrophy of the outer retina centrally
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Cone Dystrophy - Autosomal Recessive497 views74 year old man with 20/25 vision OD and subtle bull's eye on FAF. Left eye is 20/200 with atrophy of the outer retina centrally
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation497 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity496 views12-year-old had a dilated macular exam and the macula look abnormal. Interestingly, her mother, who is with her at this visit, was told about a year ago that her maculae are abnormal too. Her mother’s vision is fine. In the family tree, there are no known retinal dystrophies. They are both healthy.
VISUAL ACUITY: Her vision is 20/20 in both eyes.
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation496 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision495 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Stargardt's Macular Dystrophy ABCA4 positive495 viewsImages show some progression over 3 years of macular dystrophy.
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use495 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Fundus Albipunctatus495 views12 year old female with normal vision. She has 4 siblings all of whom have either white spots or spots on IR. Genetic testing by parents was deferred.
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Central Areolar Choroidal Sclerosis494 views66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
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Fundus Albipunctatus493 views12 year old female with normal vision. She has 4 siblings all of whom have either white spots or spots on IR. Genetic testing by parents was deferred.
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Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME492 views1 month of treatment with diamox 500 mg BID- cme is a little better
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Stargardt's Macular Dystrophy ABCA4 positive492 views Fundus Autofluorescence shows central atrophy with Hyper FAF pisciform triradiate lesions. Images show some progression over 3 years of macular dystrophy.
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Stargardt's Macular Dystrophy ABCA4 positive492 viewsImages show some progression over 3 years of macular dystrophy.
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use492 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Late Onset Retinal Degeneration (L-ORD)492 views55 year old with acute vision loss from a CNVM in the right eye. He responded to Lucentis therapy. His mother and her family has been confirmed genetically to have L-ORD and were part of the early reports.
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Non-specific (uncharaterized / unknown) Macular Dystrophy 491 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation491 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use490 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy489 views8-year-old child OD 20/40, OS 20/50
OD: Vertical C/D ratio is 0.2. There are foveal cysts. There is also a retinal elevation inferiorly and there are patchy peripheral retinal hemorrhages.
OS: Vertical C/D ratio is 0.2. There are foveal cysts. There is peripheral retinal issues with some hemorrhage in some areas of peripheral retinoschisis.
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Late Onset Retinal Degeneration (L-ORD)489 views55 year old with acute vision loss from a CNVM in the right eye. He responded to Lucentis therapy. His mother and her family has been confirmed genetically to have L-ORD and were part of the early reports.
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Cone Dystrophy - Autosomal Recessive489 views74 year old man with 20/25 vision OD and subtle bull's eye on FAF. Left eye is 20/200 with atrophy of the outer retina centrally
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Late Onset Cone Dystrophy - Very Mild489 viewsOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation489 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Non-specific (uncharaterized / unknown) Macular Dystrophy 488 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision488 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Fundus Albipunctatus488 views12 year old female with normal vision. She has 4 siblings all of whom have either white spots or spots on IR. Genetic testing by parents was deferred.
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Chorodial Sclerosis487 views74 year old female diagnosed with Chorodial Sclerosis OU and ARMD OU. Va 20/400 OD 2'200 OS
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Stargardt's Macular Dystrophy ABCA4 positive487 viewsImages show some progression over 3 years of macular dystrophy.
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation487 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy486 views8-year-old child OD 20/40, OS 20/50
OD: Vertical C/D ratio is 0.2. There are foveal cysts. There is also a retinal elevation inferiorly and there are patchy peripheral retinal hemorrhages.
OS: Vertical C/D ratio is 0.2. There are foveal cysts. There is peripheral retinal issues with some hemorrhage in some areas of peripheral retinoschisis.
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision486 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Late Onset Retinal Degeneration (L-ORD)486 views55 year old with acute vision loss from a CNVM in the right eye. He responded to Lucentis therapy. His mother and her family has been confirmed genetically to have L-ORD and were part of the early reports.
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Late Onset Retinal Degeneration (L-ORD)486 views55 year old with acute vision loss from a CNVM in the right eye. He responded to Lucentis therapy. His mother and her family has been confirmed genetically to have L-ORD and were part of the early reports.
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Pattern Dystrophy - Probably Early Butterfly486 views33 year old with normal vision and no visual complaints - normal color vision
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Late Onset Cone Dystrophy - Very Mild486 viewsOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity485 views12-year-old had a dilated macular exam and the macula look abnormal. Interestingly, her mother, who is with her at this visit, was told about a year ago that her maculae are abnormal too. Her mother’s vision is fine. In the family tree, there are no known retinal dystrophies. They are both healthy.
VISUAL ACUITY: Her vision is 20/20 in both eyes.
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Non-specific (uncharaterized / unknown) Macular Dystrophy 485 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision485 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Late Onset Cone Dystrophy - Very Mild485 viewsOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Choroideremia - Adult485 views69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
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Non-specific (uncharaterized / unknown) Macular Dystrophy VIDEO TAKES TIME TO LOAD484 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Pattern Dystrophy - Probably Early Butterfly484 views33 year old with normal vision and no visual complaints - normal color vision
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Cone Dystrophy - Autosomal Recessive484 views74 year old man with 20/25 vision OD and subtle bull's eye on FAF. Left eye is 20/200 with atrophy of the outer retina centrally
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision483 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Stargardt's Macular Dystrophy ABCA4 positive483 viewsImages show some progression over 3 years of macular dystrophy.
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use483 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Late Onset Cone Dystrophy - Very Mild483 viewsOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation482 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use481 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use481 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Pattern Dystrophy - Probably Early Butterfly481 views33 year old with normal vision and no visual complaints - normal color vision
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Central Areolar Choroidal Sclerosis481 views66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
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Non-specific (uncharaterized / unknown) Macular Dystrophy - ICG480 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Stargardt's Macular Dystrophy480 views62 year old man with good vision
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Choroideremia - Complete CHM gene deletion479 viewsVision loss since age 20 - now age 36 VA 20/160 (about) OU
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X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy478 views8-year-old child OD 20/40, OS 20/50
OD: Vertical C/D ratio is 0.2. There are foveal cysts. There is also a retinal elevation inferiorly and there are patchy peripheral retinal hemorrhages.
OS: Vertical C/D ratio is 0.2. There are foveal cysts. There is peripheral retinal issues with some hemorrhage in some areas of peripheral retinoschisis.
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision478 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Fundus Albipunctatus478 views12 year old female with normal vision. She has 4 siblings all of whom have either white spots or spots on IR. Genetic testing by parents was deferred.
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors478 views67 year old female She thought it was time to have her glasses changed.She has no family history of reitnal disease and has never been diagnosed with a problem. She started having night vision trouble the last year. Two sisters and a brother with normal vision.
VA OD: Dcc20/40-2 NccJ3
VA OS: Dcc20/20 NccJ1
IOP: TP: OD:9
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision477 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Stargardt's Macular Dystrophy ABCA4 positive477 views Fundus Autofluorescence shows central atrophy with Hyper FAF pisciform triradiate lesions. Images show some progression over 3 years of macular dystrophy.
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Retinitis Pigmentosa - RP1 Mutation477 views78 year old man: 20/32 OD and 20/50 OS - RP1 Gene is Bad -- > RP with Novel Amino Acid Change in GLY723Stop sequence of the RP1 gene - consistent with AD RP
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors477 views67 year old female She thought it was time to have her glasses changed.She has no family history of reitnal disease and has never been diagnosed with a problem. She started having night vision trouble the last year. Two sisters and a brother with normal vision.
VA OD: Dcc20/40-2 NccJ3
VA OS: Dcc20/20 NccJ1
IOP: TP: OD:9
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use476 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use476 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Choroideremia - Adult476 views69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
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Non-specific (uncharaterized / unknown) Macular Dystrophy 475 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Retinitis Pigmentosa Newly Diagnosed 55 Year Old474 views55-year-old noticed his vision declining recently, over the last few weeks, particularly in the right eye. He said previous to that the vision was not normal but was pretty good. OD is 20/100, OS is 20/50
OCT SCAN: There is macular thickening in both eyes with intraretinal cysts.
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Non-specific (uncharaterized / unknown) Macular Dystrophy 474 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Pattern Dystrophy - Probably Early Butterfly474 views33 year old with normal vision and no visual complaints - normal color vision
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors474 views67 year old female She thought it was time to have her glasses changed.She has no family history of reitnal disease and has never been diagnosed with a problem. She started having night vision trouble the last year. Two sisters and a brother with normal vision.
VA OD: Dcc20/40-2 NccJ3
VA OS: Dcc20/20 NccJ1
IOP: TP: OD:9
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use473 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Late Onset Retinal Degeneration (L-ORD)473 views55 year old with acute vision loss from a CNVM in the right eye. He responded to Lucentis therapy. His mother and her family has been confirmed genetically to have L-ORD and were part of the early reports.
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Late Onset Retinal Degeneration (L-ORD)472 views55 year old with acute vision loss from a CNVM in the right eye. He responded to Lucentis therapy. His mother and her family has been confirmed genetically to have L-ORD and were part of the early reports.
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation472 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Retinitis Pigmentosa - RP1 Mutation472 views78 year old man: 20/32 OD and 20/50 OS - RP1 Gene is Bad -- > RP with Novel Amino Acid Change in GLY723Stop sequence of the RP1 gene - consistent with AD RP
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Choroideremia - Complete CHM gene deletion472 viewsVision loss since age 20 - now age 36 VA 20/160 (about) OU
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision471 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors471 views67 year old female She thought it was time to have her glasses changed.She has no family history of reitnal disease and has never been diagnosed with a problem. She started having night vision trouble the last year. Two sisters and a brother with normal vision.
VA OD: Dcc20/40-2 NccJ3
VA OS: Dcc20/20 NccJ1
IOP: TP: OD:9
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use468 viewsRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Stargardt's Macular Dystrophy468 views62 year old man with good vision
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Choroideremia - Adult467 views69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
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Non-specific (uncharaterized / unknown) Macular Dystrophy 466 views59-year-old man has macular dystrophy in both eyes. He had some vision changes in medical school in the 1980s and saw Dr. Gass for that. He had some pigment epithelial irregularities in both eyes. He had strabismus as a child and had muscle surgery. He is color blind, along with many people in his family, and as far as he knows, it is congenital.
20/25, 20/30
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Cone Dystrophy - Autosomal Recessive466 views74 year old man with 20/25 vision OD and subtle bull's eye on FAF. Left eye is 20/200 with atrophy of the outer retina centrally
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Choroideremia - Adult466 views69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
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Choroideremia - Adult466 views69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation466 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Bullseye Maculopathy without Plaquinel465 viewsFundus photograph reveals Bull's-eye maculopathy without the use of plaquinel. Patients VA is 20/20, Right eye and 20/25, Left eye. There are reported cases of Scleroderma patients with retinal pigment epithelial atrophy. Will return for follow up in 6-months.
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision465 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors465 views67 year old female She thought it was time to have her glasses changed.She has no family history of reitnal disease and has never been diagnosed with a problem. She started having night vision trouble the last year. Two sisters and a brother with normal vision.
VA OD: Dcc20/40-2 NccJ3
VA OS: Dcc20/20 NccJ1
IOP: TP: OD:9
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Retinitis Pigmentosa - RP1 Mutation464 views78 year old man: 20/32 OD and 20/50 OS - RP1 Gene is Bad -- > RP with Novel Amino Acid Change in GLY723Stop sequence of the RP1 gene - consistent with AD RP
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Choroideremia - Adult464 views69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
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Retinitis Pigmentosa - Simplex - 16 year old female good vision464 viewsDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation464 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision463 viewsVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Retinitis Pigmentosa - RP1 Mutation463 views78 year old man: 20/32 OD and 20/50 OS - RP1 Gene is Bad -- > RP with Novel Amino Acid Change in GLY723Stop sequence of the RP1 gene - consistent with AD RP
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Choroideremia - Complete CHM gene deletion462 viewsVision loss since age 20 - now age 36 VA 20/160 (about) OU
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Late Onset Cone Dystrophy - Very Mild462 viewsOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation462 views82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
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