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7-year-old child was seen in the office on 8/26/2011. Her mother noticed she had difficulty seeing, especially her peripheral vision, since she was a child. Her mother has been checking her side vision and notices it is constricted, especially in the evening when they get out of the car and walking around, she trips over things that the other children do not have trouble seeing. She is the only child in the family who has vision problems and she is the only person in the family tree that the mother knows has any vision problems. VISUAL ACUITY: Vision is 20/20 in each eye. I was unable to check the intraocular pressure. The lenses are clear. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.0. There is no optic nerve pallor. The macula looks smooth and normal; however, the retinal vessels are attenuated and there are bone spicules throughout the periphery. OS: Vertical C/D ratio is 0.0. Again, there is no nerve pallor and the macula looks smooth and healthy; however, the retinal vessels are attenuated and there are bone spicules throughout the periphery. IMPRESSION: 1. RETINITIS PIGMENTOSA 2. POSSIBLE LEBER's CONGENITAL AMAUROSIS DISCUSSION: I explained to the mother that unfortunately her child does have a retinal dystrophy and the findings are consistent with retinitis pigmentosa. At the moment there is ‘Project 3000’ which is undertaking to identify and treat as many patients with Leber congenital amaurosis in the United States as possible and this is being done through the Carver Lab at the University of Iowa. I gave the mother the website (carverlab.org) to submit a sample of her child's blood to test. It is possible if she has a genetic defect for which there is a current treatment being studied, she may be able to be enrolled in a clinical trial. Aside from that, I asked her to use BluBlocker glasses, to eat a healthy diet, and to avoid excessive sun exposure.

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Retinitis Pigmentosa - Leber's Congenital Amaurosis - 7 Year Old Child - Right Eye246 views7-year-old child who trips over things that the other children do not have trouble seeing. She is the only person in the family tree that the mother knows has any vision problems. Vision is 20/20 in each eye00000
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Retinitis Pigmentosa - Leber's Congenital Amaurosis - 7 Year Old Child403 views7-year-old child who trips over things that the other children do not have trouble seeing. She is the only person in the family tree that the mother knows has any vision problems. Vision is 20/20 in each eye00000
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Retinitis Pigmentosa - Leber's Congenital Amaurosis - 7 Year Old Child -Fundus Photo Right Eye - Periphery579 views7-year-old child who trips over things that the other children do not have trouble seeing. She is the only person in the family tree that the mother knows has any vision problems. Vision is 20/20 in each eye00000
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Retinitis Pigmentosa - Leber's Congenital Amaurosis - 7 Year Old Child - Left Eye418 views7-year-old child who trips over things that the other children do not have trouble seeing. She is the only person in the family tree that the mother knows has any vision problems. Vision is 20/20 in each eye22222
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Retinitis Pigmentosa - Leber's Congenital Amaurosis - 7 Year Old Child246 views7-year-old child who trips over things that the other children do not have trouble seeing. She is the only person in the family tree that the mother knows has any vision problems. Vision is 20/20 in each eye00000
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Retinitis Pigmentosa - Leber's Congenital Amaurosis - 7 Year Old Child - Fundus Photo Left Eye422 views7-year-old child who trips over things that the other children do not have trouble seeing. She is the only person in the family tree that the mother knows has any vision problems. Vision is 20/20 in each eye00000
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7-year-old child was seen in the office on 8/26/2011. Her mother noticed she had difficulty seeing, especially her peripheral vision, since she was a child. Her mother has been checking her side vision and notices it is constricted, especially in the evening when they get out of the car and walking around, she trips over things that the other children do not have trouble seeing. She is the only child in the family who has vision problems and she is the only person in the family tree that the mother knows has any vision problems. VISUAL ACUITY: Vision is 20/20 in each eye. I was unable to check the intraocular pressure. The lenses are clear. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.0. There is no optic nerve pallor. The macula looks smooth and normal; however, the retinal vessels are attenuated and there are bone spicules throughout the periphery. OS: Vertical C/D ratio is 0.0. Again, there is no nerve pallor and the macula looks smooth and healthy; however, the retinal vessels are attenuated and there are bone spicules throughout the periphery. IMPRESSION: 1. RETINITIS PIGMENTOSA 2. POSSIBLE LEBER's CONGENITAL AMAUROSIS DISCUSSION: I explained to the mother that unfortunately her child does have a retinal dystrophy and the findings are consistent with retinitis pigmentosa. At the moment there is ‘Project 3000’ which is undertaking to identify and treat as many patients with Leber congenital amaurosis in the United States as possible and this is being done through the Carver Lab at the University of Iowa. I gave the mother the website (carverlab.org) to submit a sample of her child's blood to test. It is possible if she has a genetic defect for which there is a current treatment being studied, she may be able to be enrolled in a clinical trial. Aside from that, I asked her to use BluBlocker glasses, to eat a healthy diet, and to avoid excessive sun exposure.