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Les plus populaires - Dystrophies

Stargardt's Macular Dystrophyvu 461 fois62 year old man with good vision

Retinitis Pigmentosa - RP1 Mutationvu 460 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

Stargardt's Macular Dystrophy ABCA4 positivevu 459 foisImages show some progression over 3 years of macular dystrophy.

Central Areolar Choroidal Sclerosisvu 459 fois66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.

Choroideremia - Complete CHM gene deletionvu 459 foisVision loss since age 20 - now age 36 VA 20/160 (about) OU

Late Onset Retinal Degeneration (L-ORD)vu 458 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.

X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 457 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.

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 457 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Pattern Dystrophy - Probably Early Butterflyvu 457 fois33 year old with normal vision and no visual complaints - normal color vision

Non-specific (uncharaterized / unknown) Macular Dystrophy vu 456 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

Pattern Dystrophy - Probably Early Butterflyvu 456 fois33 year old with normal vision and no visual complaints - normal color vision

Retinitis Pigmentosa - RP1 Mutationvu 455 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

Choroideremia - Complete CHM gene deletionvu 454 foisVision loss since age 20 - now age 36 VA 20/160 (about) OU

Non-specific (uncharaterized / unknown) Macular Dystrophy vu 453 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

Retinitis Pigmentosa - RP1 Mutationvu 453 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

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 452 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Retinitis Pigmentosa - RP1 Mutationvu 452 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

X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 451 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.

Non-specific (uncharaterized / unknown) Macular Dystrophy - ICGvu 451 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

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 451 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Late Onset Retinal Degeneration (L-ORD)vu 451 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.

Choroideremia - Complete CHM gene deletionvu 451 foisVision loss since age 20 - now age 36 VA 20/160 (about) OU

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 451 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

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 451 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Late Onset Cone Dystrophy - Very Mildvu 450 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 449 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Late Onset Retinal Degeneration (L-ORD)vu 449 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.

Choroideremia - Adultvu 449 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 448 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Late Onset Retinal Degeneration (L-ORD)vu 448 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.

Stargardt's Macular Dystrophy ABCA4 positivevu 447 foisImages show some progression over 3 years of macular dystrophy.

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 446 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 445 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 445 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 445 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Stargardt's Macular Dystrophy ABCA4 positivevu 444 foisImages show some progression over 3 years of macular dystrophy.

Retinitis Pigmentosa - RP1 Mutationvu 444 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

Late Onset Cone Dystrophy - Very Mildvu 444 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light

Choroideremia - Adultvu 444 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Retinitis Pigmentosa - Simplex - 16 year old female good visionvu 444 foisDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 444 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Stargardts Diseasevu 443 foisStargardts Disease in OD of a 43yr old male

Retinitis Pigmentosa - Autosomal Recessive - 20/25 Visionvu 443 fois49 year old man 15 years ago he noticed decreased night vision.
VA OD: sc20/25 NscJ2
VA OS: sc20/25-2 NscJ2-1
IOP: TP: OD:17 OS:19

Genetic testing showed heterozygous for RPE65 - Probably not clinically important

Late Onset Retinal Degeneration (L-ORD)vu 442 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.

Stargardt's Macular Dystrophyvu 442 fois62 year old man with good vision

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 442 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

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 442 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Retinitis Pigmentosa - Autosomal Recessive - 20/25 Visionvu 441 fois49 year old man 15 years ago he noticed decreased night vision.
VA OD: sc20/25 NscJ2
VA OS: sc20/25-2 NscJ2-1
IOP: TP: OD:17 OS:19

Genetic testing showed heterozygous for RPE65 - Probably not clinically important

Retinitis Pigmentosa - Autosomal Dominant - Good Visionvu 441 fois55 year old female was diagnosed in 1990 with RP and the vision has been stable for the last 10 years. Her mother and her two brothers and her grandmother and the patient and her two sisters all have confirmed RP. No one has been tested. VA 20/25 OU

Choroideremia - Adultvu 440 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Stargardt's Macular Dystrophy ABCA4 positivevu 439 foisImages show some progression over 3 years of macular dystrophy.

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 439 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Retinitis Pigmentosa - RP1 Mutationvu 439 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

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 439 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

Late Onset Cone Dystrophy - Very Mildvu 439 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light

Non-specific (uncharaterized / unknown) Macular Dystrophy vu 438 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

Retinitis Pigmentosa - RP1 Mutationvu 437 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

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 437 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 435 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

Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) usevu 434 foisRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity

Stargardt's Macular Dystrophyvu 434 fois62 year old man with good vision

Choroideremia - Adultvu 434 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Retinitis Pigmentosa - RP1 Mutationvu 433 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

Late Onset Cone Dystrophy - Very Mildvu 433 foisOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light

Choroideremia - Adultvu 433 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Retinitis Pigmentosa - Simplex - 16 year old female good visionvu 433 foisDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65

Non-specific (uncharaterized / unknown) Macular Dystrophy vu 432 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

Retinitis Pigmentosa - RP1 Mutationvu 432 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

X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 431 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.

Retinitis Pigmentosa - Autosomal Recessive - 20/25 Visionvu 431 fois49 year old man 15 years ago he noticed decreased night vision.
VA OD: sc20/25 NscJ2
VA OS: sc20/25-2 NscJ2-1
IOP: TP: OD:17 OS:19

Genetic testing showed heterozygous for RPE65 - Probably not clinically important

Choroideremia - Adultvu 430 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 429 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.

Retinitis Pigmentosa - Autosomal Dominant - Good Visionvu 428 fois55 year old female was diagnosed in 1990 with RP and the vision has been stable for the last 10 years. Her mother and her two brothers and her grandmother and the patient and her two sisters all have confirmed RP. No one has been tested. VA 20/25 OU

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 427 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

Retinitis Pigmentosa - Autosomal Dominant - Good Visionvu 427 fois55 year old female was diagnosed in 1990 with RP and the vision has been stable for the last 10 years. Her mother and her two brothers and her grandmother and the patient and her two sisters all have confirmed RP. No one has been tested. VA 20/25 OU

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 426 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

Retinitis Pigmentosa - Autosomal Recessive - 20/25 Visionvu 426 fois49 year old man 15 years ago he noticed decreased night vision.
VA OD: sc20/25 NscJ2
VA OS: sc20/25-2 NscJ2-1
IOP: TP: OD:17 OS:19

Genetic testing showed heterozygous for RPE65 - Probably not clinically important

Retinitis Pigmentosa - RP1 Mutationvu 425 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

Choroideremia - Adultvu 425 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 425 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

Choroideremia - Complete CHM gene deletionvu 424 foisVision loss since age 20 - now age 36 VA 20/160 (about) OU

Retinitis Pigmentosa - Autosomal Dominant - Good Visionvu 424 fois55 year old female was diagnosed in 1990 with RP and the vision has been stable for the last 10 years. Her mother and her two brothers and her grandmother and the patient and her two sisters all have confirmed RP. No one has been tested. VA 20/25 OU

Retinitis Pigmentosa - RP1 Mutationvu 423 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

Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitorsvu 423 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

Choroideremia - Adultvu 423 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Retinitis Pigmentosa - RP1 Mutationvu 422 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

Choroideremia - Complete CHM gene deletionvu 422 foisVision loss since age 20 - now age 36 VA 20/160 (about) OU

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 420 fois82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.

X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boyvu 419 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.

Choroideremia - Adultvu 418 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Retinitis Pigmentosa - Autosomal Recessive - 20/25 Visionvu 418 fois49 year old man 15 years ago he noticed decreased night vision.
VA OD: sc20/25 NscJ2
VA OS: sc20/25-2 NscJ2-1
IOP: TP: OD:17 OS:19

Genetic testing showed heterozygous for RPE65 - Probably not clinically important

Choroideremia - Adultvu 417 fois69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS

Retinitis Pigmentosa - Autosomal Recessive - 20/25 Visionvu 417 fois49 year old man 15 years ago he noticed decreased night vision.
VA OD: sc20/25 NscJ2
VA OS: sc20/25-2 NscJ2-1
IOP: TP: OD:17 OS:19

Genetic testing showed heterozygous for RPE65 - Probably not clinically important

ABCA4 positive - Stargardt Diseasevu 417 fois24 year old female She has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background.
Her mother and father both have inherited retinal diseases. His mother was diagnosed 23 years ago with Stargardts genetically confirmed in Boston. The father has Retinitis Pigmentosa. The mother has seven brothers and sisters and four have Stargardts and they are legally blind. Also one cousin has it.

PMHx benign, Meds: vitamins.
VA OD: Dcc20/160
VA OS: Dcc20/160
IOP: TP: OD:20 OS:21

Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutationvu 416 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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