Most viewed - Dystrophies
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation408 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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ABCA4 positive - Stargardt Disease408 views24 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
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Retinitis Pigmentosa - Simplex - 16 year old female good vision407 viewsDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65
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Retinitis Pigmentosa - RP1 Mutation405 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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Late Onset Cone Dystrophy - Very Mild405 viewsOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
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ABCA4 positive - Stargardt Disease405 views24 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
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Retinitis Pigmentosa - Autosomal Dominant - Good Vision404 views55 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
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Choroideremia - Complete CHM gene deletion400 viewsVision loss since age 20 - now age 36 VA 20/160 (about) OU
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Choroideremia - Adult400 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 - Adult399 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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Late Onset Cone Dystrophy - Very Mild398 viewsOnly 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 - 20/25 Vision398 views49 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
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors397 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 - 20/25 Vision397 views49 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
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Stargardt's Macular Dystrophy396 views62 year old man with good vision
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Retinitis Pigmentosa - Autosomal Dominant - Good Vision396 views55 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
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation396 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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Choroideremia - Complete CHM gene deletion395 viewsVision loss since age 20 - now age 36 VA 20/160 (about) OU
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Retinitis Pigmentosa - Simplex - 16 year old female good vision395 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 Mutation394 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 Mutation393 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 inhibitors393 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 with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors391 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 - 20/25 Vision391 views49 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
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Retinitis Pigmentosa - Autosomal Recessive - 20/25 Vision391 views49 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
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Retinitis Pigmentosa - Simplex - 16 year old female good vision391 viewsDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65
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Choroideremia - Adult390 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 - Autosomal Dominant - Good Vision390 views55 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
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors389 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 Dominant - Good Vision389 views55 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
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Retinitis Pigmentosa - Autosomal Dominant - Rho Mutation389 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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Choroideremia - Adult388 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 - Autosomal Dominant - Rho Mutation388 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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Retinitis Pigmentosa - RP1 Mutation387 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 - Autosomal Dominant - Good Vision387 views55 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
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation387 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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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation387 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 - X-linked Recessive387 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - RP1 Mutation385 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 - Autosomal Dominant - Good Vision385 views55 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
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors382 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 Dominant - Rho Mutation382 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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Choroideremia - Adult381 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 - Autosomal Dominant - Good Vision381 views55 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
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Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors380 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 - 20/25 Vision380 views49 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
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Retinitis Pigmentosa - Autosomal Recessive - 20/25 Vision379 views49 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
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation379 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 - 20/25 Vision378 views49 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
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Retinitis Pigmentosa - Simplex - 16 year old female good vision378 viewsDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65
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Retinitis Pigmentosa - Autosomal Dominant - Rho Mutation378 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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ABCA4 positive - Stargardt Disease378 views24 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
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Retinitis Pigmentosa - Autosomal Dominant - Rho Mutation377 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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Retinitis Pigmentosa - X-linked Recessive377 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - Autosomal Dominant - Good Vision376 views55 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
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Retinitis Pigmentosa - Simplex - 16 year old female good vision376 viewsDifficulty with night vision
No family history
VA 20/25 OD, 20/16 OS
Negative for RPE65
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Retinitis Pigmentosa - Autosomal Dominant - Rho Mutation376 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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Choroideremia - Adult375 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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ABCA4 positive - Stargardt Disease375 views24 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
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Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation374 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 - X-linked Recessive374 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Choroideremia - Adult373 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 - X-linked Recessive372 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Choroideremia - Adult370 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 - X-linked Recessive370 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - Autosomal Dominant - Rho Mutation369 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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Retinitis Pigmentosa - X-linked Recessive369 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - X-linked Recessive369 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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ABCA4 positive - Stargardt Disease369 views24 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
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Retinitis Pigmentosa - Autosomal Dominant - Rho Mutation368 views55 year old female 55 year old female Vision loss since age 25. It runs in the family big time. Paternal grandmother and one of her sisters, father had it, all three of his children had it and her biological nephew have RP. VA 20/80 OD, 20/125 OS
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ABCA4 positive - Stargardt Disease368 views24 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
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Retinitis Pigmentosa - X-linked Recessive359 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - X-linked Recessive358 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Sectoral Retinitis Pigmentosa - Asymptomatic358 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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ABCA4 positive - Stargardt Disease355 views24 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
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Usher Syndrome - USH2A355 views23 year old female Extended HPI: Vision trouble for about five years. She has some trouble with night vision and was told that her retina looked abnormal. There are no family members that are known to have an inherited retinal disease.
Medical Hx: Sensorial Neural Hearing Loss. Chorionic migranes.
Systemic Meds: None.
VA 20/32 OD, 20/25 OS
Color vision normal
Heterozygous for USH2A pathological mutation and for an USH2A VUS
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Retinitis Pigmentosa - X-linked Recessive354 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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ABCA4 positive - Stargardt Disease354 views24 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
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Retinitis Pigmentosa - X-linked Recessive351 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - X-linked Recessive351 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - X-linked Recessive348 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Usher Syndrome - USH2A343 views23 year old female Extended HPI: Vision trouble for about five years. She has some trouble with night vision and was told that her retina looked abnormal. There are no family members that are known to have an inherited retinal disease.
Medical Hx: Sensorial Neural Hearing Loss. Chorionic migranes.
Systemic Meds: None.
VA 20/32 OD, 20/25 OS
Color vision normal
Heterozygous for USH2A pathological mutation and for an USH2A VUS
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Sectoral Retinitis Pigmentosa - Asymptomatic342 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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ABCA4 positive - Stargardt Disease341 views24 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
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Retinitis Pigmentosa - X-linked Recessive339 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Sectoral Retinitis Pigmentosa - Asymptomatic338 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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ABCA4 positive - Stargardt Disease338 views24 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
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Retinitis Pigmentosa - X-linked Recessive337 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Retinitis Pigmentosa - X-linked Recessive337 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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ABCA4 positive - Stargardt Disease336 views24 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
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Sectoral Retinitis Pigmentosa - Asymptomatic335 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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Sectoral Retinitis Pigmentosa - Asymptomatic331 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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Retinitis Pigmentosa - X-linked Recessive330 views60 year old man The vision in the right eye is blurry recently. He has trouble with night vision for about 3 years. His brother has eye disease in Michigan.
VA OD: Dcc20/32-1 PHNI NccJ1-1
VA OS: Dcc20/20 NccJ1+-1
IOP: TP: OD:36 OS:18
He has pseudoexfoliative glaucoma in the right eye.
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Sectoral Retinitis Pigmentosa - Asymptomatic328 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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Usher Syndrome - USH2A325 views23 year old female Extended HPI: Vision trouble for about five years. She has some trouble with night vision and was told that her retina looked abnormal. There are no family members that are known to have an inherited retinal disease.
Medical Hx: Sensorial Neural Hearing Loss. Chorionic migranes.
Systemic Meds: None.
VA 20/32 OD, 20/25 OS
Color vision normal
Heterozygous for USH2A pathological mutation and for an USH2A VUS
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Sectoral Retinitis Pigmentosa - Asymptomatic323 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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Sectoral Retinitis Pigmentosa - Asymptomatic319 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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Best Disease319 views30 year old man vision 20/40 OD, 20/20 OS - strong family history
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Sectoral Retinitis Pigmentosa - Asymptomatic316 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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Sectoral Retinitis Pigmentosa - Asymptomatic315 views56-year-old female - The patient was in for an annual checkup because of her diabetes. No visual complaints (no night vision trouble)
PMHx DM sine 2015, Asthma, Thyroid Disease, HTN
MEDS: Metformin, Levothyroxine, Lisinopril,, Inhaler
ROS Negative
VA OD: sc20/32-1 VA OS: sc20/32-1
IOP: TP: OD:18 OS:17
293 Invitae genetic panel - negative
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