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26-year-old man who I saw in the office on June 25, 2009. He lived in Knoxville, Tennessee and was diagnosed there with congenital achromatopsia. He does have family members who also have this disorder. He says he sees better in dim lighting than in bright lighting. He believes as a child he might have had electroretinography testing. He has not had any testing done lately. VISUAL ACUITY: OD 20/200, OS 20/200. IOP: OD 17, OS 18. SLIT EXAMINATION: Normal with clear lenses. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. The macula looks normal. OS: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. The macula and periphery look normal. OCT SCAN: The OCT scan shows a normal foveal contour with normal retinal architecture. Photos confirm clinical findings. FLUORESCEIN ANGIOGRAPHY: Fluorescein angiography shows a very minimal patchy hyperfluorescence in the macula, which is not significantly different than normal. IMPRESSION: 1. PROBABLE CONGENITAL ACHROMATOPSIA DISCUSSION: I explained to the patient that I do not see any reason why any other diagnosis would fit his particular condition. Of course electroretinography would be diagnostic in a case such as this and I suggested he continue using dim lightning and sun glasses, which he is already doing.

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Congenital Achromatopsia 294 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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Congenital Achromatopsia 218 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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Congenital Achromatopsia 161 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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Congenital Achromatopsia 253 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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Congenital Achromatopsia 158 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita06.jpg
Congenital Achromatopsia 149 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita07.jpg
Congenital Achromatopsia 111 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita08.jpg
Congenital Achromatopsia 94 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita09.jpg
Congenital Achromatopsia 100 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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Congenital Achromatopsia 96 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita11.png
Congenital Achromatopsia 101 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita12.png
Congenital Achromatopsia 85 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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Congenital Achromatopsia 120 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita14.png
Congenital Achromatopsia 114 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita15.png
Congenital Achromatopsia 173 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita16.png
Congenital Achromatopsia 138 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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conachrom_mita17.png
Congenital Achromatopsia 156 megtekintés26-year-old man was diagnosed with congenital achromatopsia by ERG as a child. He has family members who also have this disorder. OD 20/200, OS 20/200.00000
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26-year-old man who I saw in the office on June 25, 2009. He lived in Knoxville, Tennessee and was diagnosed there with congenital achromatopsia. He does have family members who also have this disorder. He says he sees better in dim lighting than in bright lighting. He believes as a child he might have had electroretinography testing. He has not had any testing done lately. VISUAL ACUITY: OD 20/200, OS 20/200. IOP: OD 17, OS 18. SLIT EXAMINATION: Normal with clear lenses. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. The macula looks normal. OS: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. The macula and periphery look normal. OCT SCAN: The OCT scan shows a normal foveal contour with normal retinal architecture. Photos confirm clinical findings. FLUORESCEIN ANGIOGRAPHY: Fluorescein angiography shows a very minimal patchy hyperfluorescence in the macula, which is not significantly different than normal. IMPRESSION: 1. PROBABLE CONGENITAL ACHROMATOPSIA DISCUSSION: I explained to the patient that I do not see any reason why any other diagnosis would fit his particular condition. Of course electroretinography would be diagnostic in a case such as this and I suggested he continue using dim lightning and sun glasses, which he is already doing.