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am meisten angesehen - Dystrophies

maculardystrophy_kewa_12201204.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 523 x angesehen59-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
stargardts1_kafe_201101.png
Stargardt's Macular Dystrophy ABCA4 positive523 x angesehenImages show some progression over 3 years of macular dystrophy.
stargardts3_kafe_201520.jpg
Stargardt's Macular Dystrophy ABCA4 positive523 x angesehen Fundus Autofluorescence shows central atrophy with Hyper FAF pisciform triradiate lesions. Images show some progression over 3 years of macular dystrophy.
plaq_meki_050916_15~0.jpg
Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use523 x angesehenRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
xljr_gk16.jpg
X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy522 x angesehen8-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.
49545_010.JPG
Pigmented Peripheral Retinal Degeneration522 x angesehen42-year old male comes in for routine eye exam and to follow up on peripheral retinal degeneration in both eyes. VA is 20/20, right eye and 20/25, left eye. Patient is asymptomatic with no visual complaints.
50316_018.JPG
Bullseye Maculopathy without Plaquinel521 x angesehenFundus 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.
ar_RP_joma_04.png
Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision521 x angesehenVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
ar_RP_joma_06.jpg
Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision521 x angesehenVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
choreremiacarrier_makl_011215_18.jpg
Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonization521 x angesehen
macpigmentdaughter22.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity520 x angesehen12-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.
49545_031.JPG
Pigmented Peripheral Retinal Degeneration520 x angesehen42-year old male comes in for routine eye exam and to follow up on peripheral retinal degeneration in both eyes. VA is 20/20, right eye and 20/25, left eye. Patient is asymptomatic with no visual complaints.
stargardt_huta_051118_16.jpg
Stargardt's Macular Dystrophy520 x angesehen62 year old man with good vision
macpigmentdaughter16.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity519 x angesehen12-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.
xljr_gk15.jpg
X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy519 x angesehen8-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.
choreremiacarrier_makl_011215_19.jpg
Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonization519 x angesehen
stargardt_huta_051118_07.jpg
Stargardt's Macular Dystrophy517 x angesehen62 year old man with good vision
maculardystrophy_kewa_12201207.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 516 x angesehen59-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
maculardystrophy_kewa_12201232.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy - ICG516 x angesehen59-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
stargardts3_kafe_201520_copy.jpg
Stargardt's Macular Dystrophy ABCA4 positive516 x angesehen Fundus Autofluorescence shows central atrophy with Hyper FAF pisciform triradiate lesions. Images show some progression over 3 years of macular dystrophy.
LORD_joyo_102416_05.jpg
Late Onset Retinal Degeneration (L-ORD)516 x angesehen55 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.
albipunctata_mijo_073117_15.jpg
Fundus Albipunctatus516 x angesehen12 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.
albipunctata_mijo_073117_30.jpg
Fundus Albipunctatus516 x angesehen12 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.
choroideremia_datib_061319_25.jpg
Choroideremia - Adult516 x angesehen69 year old man with no family history of choroideremia and gradual vision loss in both eyes. VVA 20/125 OD; 20/63 OS
macpigmentdaughter19.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity515 x angesehen12-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.
dystwhitespots_lori_oct_02201229.jpg
Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME514 x angesehen1 month of treatment with diamox 500 mg BID- cme is a little better
LORD_joyo_102416_16.jpg
Late Onset Retinal Degeneration (L-ORD)514 x angesehen55 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.
albipunctata_mijo_073117_27.jpg
Fundus Albipunctatus514 x angesehen12 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.
LORD_joyo_102416_28.jpg
Late Onset Retinal Degeneration (L-ORD)513 x angesehen55 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.
albipunctata_mijo_073117_26.jpg
Fundus Albipunctatus513 x angesehen12 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.
enhancedScone_dowhi_012120_06.jpg
Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation513 x angesehen82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
xljr_gk31.png
X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy512 x angesehen8-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.
49545_009.JPG
Pigmented Peripheral Retinal Degeneration512 x angesehen42-year old male comes in for routine eye exam and to follow up on peripheral retinal degeneration in both eyes. VA is 20/20, right eye and 20/25, left eye. Patient is asymptomatic with no visual complaints.
plaq_meki_050916_01.png
Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use512 x angesehenRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
50316_002.JPG
Bullseye Maculopathy without Plaquinel511 x angesehenFundus 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.
areolar_liga_040717_09.jpg
Central Areolar Choroidal Sclerosis511 x angesehen66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
maculardystrophy_kewa_12201210.avi
Non-specific (uncharaterized / unknown) Macular Dystrophy VIDEO TAKES TIME TO LOAD510 x angesehen59-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
ar_RP_joma_10.jpg
Retinitis Pigmentosa - Autosomal Recessive - 82 year old man with Good Vision510 x angesehenVA 20/25, 20/32 - Bone spicules in periphery - FAF is very symmetric
choreremiacarrier_makl_011215_29.jpg
Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonization510 x angesehen
LORD_joyo_102416_14.jpg
Late Onset Retinal Degeneration (L-ORD)510 x angesehen55 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.
maculardystrophy_kewa_12201208.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 509 x angesehen59-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
choreremiacarrier_makl_011215_08.png
Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonization509 x angesehen
rp_dewo10.jpg
Retinitis Pigmentosa Newly Diagnosed 55 Year Old508 x angesehen55-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.
albipunctata_mijo_073117_28.jpg
Fundus Albipunctatus508 x angesehen12 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.
macpigmentdaughter23.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity507 x angesehen12-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.
LORD_joyo_102416_23.jpg
Late Onset Retinal Degeneration (L-ORD)507 x angesehen55 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.
stargardts2_kafe_201312_copy_28129.jpg
Stargardt's Macular Dystrophy ABCA4 positive506 x angesehen Fundus Autofluorescence shows central atrophy with Hyper FAF pisciform triradiate lesions. Images show some progression over 3 years of macular dystrophy.
choroideremia_male_051518_04.png
Choroideremia - Complete CHM gene deletion506 x angesehenVision loss since age 20 - now age 36 VA 20/160 (about) OU
stargardt_huta_051118_09.jpg
Stargardt's Macular Dystrophy506 x angesehen62 year old man with good vision
LORD_joyo_102416_18.jpg
Late Onset Retinal Degeneration (L-ORD)505 x angesehen55 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.
conedyst_arbu_120816_04.jpg
Cone Dystrophy - Autosomal Recessive505 x angesehen74 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
RP-cme_mapr_121318_07.jpg
Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors505 x angesehen67 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
dystwhitespots_lori_oct_02201239.jpg
Retinitis Pigmentosa Sine Pigmento or Unknown Dystrophy - Peripheral Superficial White Spots and Recurrent CME504 x angesehen1 month of treatment with diamox 500 mg BID- cme is a little better
stargardt_huta_051118_11.jpg
Stargardt's Macular Dystrophy504 x angesehen62 year old man with good vision
conedyst_arbu_120816_09.jpg
Cone Dystrophy - Autosomal Recessive503 x angesehen74 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
RP_anrus_071719_10.jpg
Retinitis Pigmentosa - Autosomal Recessive - 20/25 Vision503 x angesehen49 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
maculardystrophy_kewa_12201230.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy - ICG502 x angesehen59-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
conedyst_arbu_120816_10.jpg
Cone Dystrophy - Autosomal Recessive502 x angesehen74 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
areolar_liga_040717_06.jpg
Central Areolar Choroidal Sclerosis502 x angesehen66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
RP-cme_mapr_121318_14.jpg
Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors502 x angesehen67 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
macpigmentdaughter14.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity501 x angesehen12-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.
maculardystrophy_kewa_12201221.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 501 x angesehen59-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
49545_008.JPG
Pigmented Peripheral Retinal Degeneration501 x angesehen42-year old male comes in for routine eye exam and to follow up on peripheral retinal degeneration in both eyes. VA is 20/20, right eye and 20/25, left eye. Patient is asymptomatic with no visual complaints.
pattern_brcl_072616_08.jpg
Pattern Dystrophy - Probably Early Butterfly501 x angesehen33 year old with normal vision and no visual complaints - normal color vision
RP-cme_mapr_121318_21.JPG
Retinitis Pigmentosa with Cystoid Macular Edema responsive to topical carbonic anhydrase inhibitors501 x angesehen67 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
maculardystrophy_kewa_12201218.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 500 x angesehen59-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
albipunctata_mijo_073117_17.jpg
Fundus Albipunctatus500 x angesehen12 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.
choroideremia_male_051518_01.png
Choroideremia - Complete CHM gene deletion500 x angesehenVision loss since age 20 - now age 36 VA 20/160 (about) OU
rp_dewo18.jpg
Retinitis Pigmentosa Newly Diagnosed 55 Year Old499 x angesehen55-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.
maculardystrophy_kewa_12201226.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy - ICG498 x angesehen59-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
plaq_meki_050916_06~0.jpg
Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use498 x angesehenRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
choroideremia_male_051518_02.png
Choroideremia - Complete CHM gene deletion498 x angesehenVision loss since age 20 - now age 36 VA 20/160 (about) OU
macpigmentdaughter17.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity497 x angesehen12-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.
maculardystrophy_kewa_12201203.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 497 x angesehen59-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
cone-dyst_aylboi_041819_10.jpg
Late Onset Cone Dystrophy - Very Mild496 x angesehenOnly IR and OCT show very mild bull's eye. 67 year old female with difficulty seeing in bright light
stargardts2_kafe_201316.jpg
Stargardt's Macular Dystrophy ABCA4 positive495 x angesehenImages show some progression over 3 years of macular dystrophy.
stargardts3_kafe_201524.jpg
Stargardt's Macular Dystrophy ABCA4 positive495 x angesehenImages show some progression over 3 years of macular dystrophy.
LORD_joyo_102416_09.jpg
Late Onset Retinal Degeneration (L-ORD)495 x angesehen55 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.
macularatrophy_baho_100412_13.avi
Posterior Polar Annular Choroidal Dystrophy494 x angesehen68 year old woman with know macular irregularities for over 20 years. She has since been followed another 6 years and her vision remains 20/25.
maculardystrophy_kewa_12201222.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy 494 x angesehen59-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
maculardystrophy_kewa_12201228.jpg
Non-specific (uncharaterized / unknown) Macular Dystrophy - ICG494 x angesehen59-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
rp_dewo26.jpg
Retinitis Pigmentosa Newly Diagnosed 55 Year Old493 x angesehen55-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.
LORD_joyo_102416_21.jpg
Late Onset Retinal Degeneration (L-ORD)493 x angesehen55 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.
conedyst_arbu_120816_01.png
Cone Dystrophy - Autosomal Recessive493 x angesehen74 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
LORD_joyo_102416_15.jpg
Late Onset Retinal Degeneration (L-ORD)492 x angesehen55 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.
conedyst_arbu_120816_02.png
Cone Dystrophy - Autosomal Recessive492 x angesehen74 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
albipunctata_mijo_073117_16.jpg
Fundus Albipunctatus492 x angesehen12 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.
RP1-gene-dama-2014-10.jpg
Retinitis Pigmentosa - RP1 Mutation492 x angesehen78 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
macpigmentdaughter24.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity491 x angesehen12-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.
stargardts2_kafe_201317.jpg
Stargardt's Macular Dystrophy ABCA4 positive491 x angesehenImages show some progression over 3 years of macular dystrophy.
pattern_brcl_072616_04.png
Pattern Dystrophy - Probably Early Butterfly491 x angesehen33 year old with normal vision and no visual complaints - normal color vision
areolar_liga_040717_04.jpg
Central Areolar Choroidal Sclerosis491 x angesehen66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
stargardts3_kafe_201519.jpg
Stargardt's Macular Dystrophy ABCA4 positive490 x angesehen Fundus Autofluorescence shows central atrophy with Hyper FAF pisciform triradiate lesions. Images show some progression over 3 years of macular dystrophy.
stargardts3_kafe_201521.jpg
Stargardt's Macular Dystrophy ABCA4 positive490 x angesehenImages show some progression over 3 years of macular dystrophy.
scone-dowh-060617_002.jpg
Enhanced S Cone Syndrome - Goldmann Favre - NR2E3 Mutation490 x angesehen82 year old man with poor vision for many years. VA HM OD, 5/200 OS. Diagnosed at age 12 with retinitis pigmentosa. Nystagmus.
xljr_gk22.png
X-linked Juvenille Retinoschisis - Peripheral Retinal Vascular Anomalies - Vitreous Hemorrhage - 8 Year Old Boy489 x angesehen8-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.
areolar_liga_040717_07.jpg
Central Areolar Choroidal Sclerosis489 x angesehen66 year old woman with 20/160 vision - loss of central vision 11 years ago. Strong family history of vision loss.
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Fluorescein Angiogram - Enhanced S Cone Syndrome - Goldmann Favre - 488 x angesehen55-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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Diffuse outer retinal atrophy in 51 year old woman with 22 years plaquenil (hydroxychlorquine) use487 x angesehenRetinitis 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) use487 x angesehenRetinitis pigmentosa or similar dystrophy vs plaquenil toxicity
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