Les plus populaires - Dystrophies
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 511 fois82 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 Acuityvu 510 fois12-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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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Visionvu 510 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Cone Dystrophy - Autosomal Recessivevu 510 fois74 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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Pigmented Maculae - Mother and Daughter - Normal Visual Acuityvu 509 fois12-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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Stargardt's Macular Dystrophy ABCA4 positivevu 509 fois 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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Fluorescein Angiogram - Enhanced S Cone Syndrome - Goldmann Favre - vu 508 fois55-year-old woman while in college her vision was poor even with glasses and she sought evaluation for that. She was told after she had an electroretinogram at USF 15 years ago, that she had something with her blue cones. She does have poor night vision, but her reading vision is pretty good.
VISUAL ACUITY: OD 20/40, OS 20/40
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Non-specific (uncharaterized / unknown) Macular Dystrophy vu 508 fois59-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 Dystrophy ABCA4 positivevu 508 foisImages show some progression over 3 years of macular dystrophy.
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Cone Dystrophy - Autosomal Recessivevu 508 fois74 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 Mutationvu 507 fois82 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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Fundus Albipunctatusvu 507 fois12 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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Stargardt's Macular Dystrophy ABCA4 positivevu 506 foisImages show some progression over 3 years of macular dystrophy.
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Fundus Albipunctatusvu 506 fois12 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 - Autosomal Recessive - 82 year old man with Good Visionvu 505 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Stargardt's Macular Dystrophy ABCA4 positivevu 505 foisImages show some progression over 3 years of macular dystrophy.
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Late Onset Retinal Degeneration (L-ORD)vu 505 fois55 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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X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 504 fois8-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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Stargardt's Macular Dystrophy ABCA4 positivevu 504 fois 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 positivevu 504 foisImages show some progression over 3 years of macular dystrophy.
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Late Onset Cone Dystrophy - Very Mildvu 503 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Chorodial Sclerosisvu 502 fois74 year old female diagnosed with Chorodial Sclerosis OU and ARMD OU. Va 20/400 OD 2'200 OS
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X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 502 fois8-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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Non-specific (uncharaterized / unknown) Macular Dystrophy vu 502 fois59-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 Visionvu 502 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 502 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Cone Dystrophy - Autosomal Recessivevu 502 fois74 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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Central Areolar Choroidal Sclerosisvu 502 fois66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 502 fois82 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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Late Onset Cone Dystrophy - Very Mildvu 502 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Non-specific (uncharaterized / unknown) Macular Dystrophy VIDEO TAKES TIME TO LOADvu 501 fois59-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 Visionvu 501 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Late Onset Retinal Degeneration (L-ORD)vu 501 fois55 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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Fundus Albipunctatusvu 501 fois12 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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Stargardt's Macular Dystrophy ABCA4 positivevu 500 foisImages 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) usevu 500 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Late Onset Retinal Degeneration (L-ORD)vu 500 fois55 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)vu 500 fois55 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 Mutationvu 499 fois82 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 vu 498 fois59-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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Non-specific (uncharaterized / unknown) Macular Dystrophy - ICGvu 498 fois59-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 Dystrophy ABCA4 positivevu 498 foisImages show some progression over 3 years of macular dystrophy.
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 498 fois67 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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Choroideremia - Adultvu 498 fois69 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 - Adultvu 498 fois69 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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Pattern Dystrophy - Probably Early Butterflyvu 497 fois33 year old with normal vision and no visual complaints - normal color vision
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Cone Dystrophy - Autosomal Recessivevu 497 fois74 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 Mildvu 497 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Visionvu 496 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Pattern Dystrophy - Probably Early Butterflyvu 496 fois33 year old with normal vision and no visual complaints - normal color vision
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Late Onset Cone Dystrophy - Very Mildvu 496 foisOnly 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 Mutationvu 496 fois82 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) usevu 495 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Retinitis Pigmentosa Newly Diagnosed 55 Year Oldvu 494 fois55-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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Stargardt's Macular Dystrophyvu 494 fois62 year old man with good vision
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Visionvu 493 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Pattern Dystrophy - Probably Early Butterflyvu 493 fois33 year old with normal vision and no visual complaints - normal color vision
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Fundus Albipunctatusvu 493 fois12 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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Choroideremia - Complete CHM gene deletionvu 493 foisVision loss since age 20 - now age 36 VA 20/160 (about) OU
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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 492 foisRetinitis 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) usevu 492 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 491 fois67 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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Non-specific (uncharaterized / unknown) Macular Dystrophy vu 490 fois59-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 Visionvu 490 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Stargardt's Macular Dystrophy ABCA4 positivevu 490 fois 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 Mutationvu 490 fois78 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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X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 489 fois8-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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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 489 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Pattern Dystrophy - Probably Early Butterflyvu 489 fois33 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 inhibitorsvu 489 fois67 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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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 488 fois82 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 Mutationvu 488 fois78 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 inhibitorsvu 488 fois67 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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Non-specific (uncharaterized / unknown) Macular Dystrophy vu 486 fois59-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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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 486 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Central Areolar Choroidal Sclerosisvu 486 fois66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
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Choroideremia - Complete CHM gene deletionvu 486 foisVision 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 Visionvu 485 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Late Onset Retinal Degeneration (L-ORD)vu 485 fois55 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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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 483 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Stargardt's Macular Dystrophyvu 483 fois62 year old man with good vision
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Non-specific (uncharaterized / unknown) Macular Dystrophy vu 482 fois59-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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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 482 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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Late Onset Retinal Degeneration (L-ORD)vu 482 fois55 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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Choroideremia - Adultvu 482 fois69 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 Mutationvu 482 fois82 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 Mutationvu 481 fois78 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 - Simplex - 16 year old female good visionvu 481 foisDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65
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Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Visionvu 480 foisVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
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Cone Dystrophy - Autosomal Recessivevu 480 fois74 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 Visionvu 479 foisVA 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 inhibitorsvu 479 fois67 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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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 479 fois82 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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Stargardt's Macular Dystrophy ABCA4 positivevu 478 foisImages show some progression over 3 years of macular dystrophy.
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Choroideremia - Adultvu 478 fois69 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 - Adultvu 478 fois69 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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Late Onset Cone Dystrophy - Very Mildvu 477 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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Retinitis Pigmentosa - RP1 Mutationvu 476 fois78 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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Stargardt's Macular Dystrophyvu 476 fois62 year old man with good vision
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 476 fois82 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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