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11-year-old child was in for a comprehensive evaluation with her optometrist who saw a spot in the retina in the left eye, which looked possibly like a retinal tear. She does have an area where her iris in the right eye is abnormal, where she was told the iris was stuck in the right eye. Her medical history also is significant for problems. She has six undescended adult teeth and also she has had a cyst removed from her arm pit and she has three more in her arm pit and one on her face and she is seeing a dermatologist for that in the near future. The mom is unclear as to what type of cysts they were, whether they were possibly sebaceous or dermoid or fibrous cysts. She also has a family history. The mother reports no health problems, however, I had the mother ask her mother and it turns out the patient’s grandmother does have a history of intestinal polyps, as does the patient’s grandmother’s brothers son. There is no history of cancer in the family. VISUAL ACUITY: OD 20/20, OS 20/20. IOP: OD 12, OS 11. Color vision is normal. SLIT EXAMINATION: The right eye does have iris atrophy at 6 o’clock from about 5:30 to 6:30 and the lens is clear. The left eye has a normal anterior chamber with a clear lens. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. OS: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. There is a tear drop shaped congenital hypertrophy of the retina pigment epithelium lesion at 2 o’clock at the equator. Photos confirm clinical findings. IMPRESSION: 1. CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM – LEFT EYE 2. CLINICAL HISTORY AND FAMILY HISTORY SUGGESTIVE OF GARDNER’S SYNDROME (FAMILIAL COLORECTAL POLYPOSIS) DISCUSSION: I explained to the mom that the lesion in the eye is benign. I took a photograph of it today and I suspect that it won’t change. I did ask her to return for a check in four months. I also asked the mother if she could come in for an evaluation. The patient is manifesting several characteristics, which are seen in patients who have familial colorectal polyposis (Gardner’s Syndrome). There is an APC gene and that is often implicated in this syndrome. It is important to establish the diagnosis in the mother and the child, since it is associated with colon cancer at a relatively young age. The patient has an appointment with a pediatric genetics doctor.

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CHRPE - Gardner Syndrome - FAMILIAL COLORECTAL POLYPOSIS - 11 year old female784 views11-year-old child with CHRPE OS has six undescended adult teeth and also she has had a cyst removed from her arm pit and she has three more in her arm pit and one on her face and she is seeing a dermatologist for that in the near future. The mother reports no health problems, however, the patient’s grandmother does have a history of intestinal polyps, as does the patient’s grandmother’s brothers son. 00000
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CHRPE - Gardner Syndrome - FAMILIAL COLORECTAL POLYPOSIS - 11 year old female736 views11-year-old child with CHRPE OS has six undescended adult teeth and also she has had a cyst removed from her arm pit and she has three more in her arm pit and one on her face and she is seeing a dermatologist for that in the near future. The mother reports no health problems, however, the patient’s grandmother does have a history of intestinal polyps, as does the patient’s grandmother’s brothers son. 00000
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CHRPE - Gardner Syndrome - FAMILIAL COLORECTAL POLYPOSIS - 11 year old female703 views11-year-old child with CHRPE OS has six undescended adult teeth and also she has had a cyst removed from her arm pit and she has three more in her arm pit and one on her face and she is seeing a dermatologist for that in the near future. The mother reports no health problems, however, the patient’s grandmother does have a history of intestinal polyps, as does the patient’s grandmother’s brothers son. 00000
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CHRPE - Gardner Syndrome - FAMILIAL COLORECTAL POLYPOSIS - 11 year old female684 views11-year-old child with CHRPE OS has six undescended adult teeth and also she has had a cyst removed from her arm pit and she has three more in her arm pit and one on her face and she is seeing a dermatologist for that in the near future. The mother reports no health problems, however, the patient’s grandmother does have a history of intestinal polyps, as does the patient’s grandmother’s brothers son. 00000
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11-year-old child was in for a comprehensive evaluation with her optometrist who saw a spot in the retina in the left eye, which looked possibly like a retinal tear. She does have an area where her iris in the right eye is abnormal, where she was told the iris was stuck in the right eye. Her medical history also is significant for problems. She has six undescended adult teeth and also she has had a cyst removed from her arm pit and she has three more in her arm pit and one on her face and she is seeing a dermatologist for that in the near future. The mom is unclear as to what type of cysts they were, whether they were possibly sebaceous or dermoid or fibrous cysts. She also has a family history. The mother reports no health problems, however, I had the mother ask her mother and it turns out the patient’s grandmother does have a history of intestinal polyps, as does the patient’s grandmother’s brothers son. There is no history of cancer in the family. VISUAL ACUITY: OD 20/20, OS 20/20. IOP: OD 12, OS 11. Color vision is normal. SLIT EXAMINATION: The right eye does have iris atrophy at 6 o’clock from about 5:30 to 6:30 and the lens is clear. The left eye has a normal anterior chamber with a clear lens. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. OS: Vertical C/D ratio is 0.1. There is no posterior vitreous separation. There is a tear drop shaped congenital hypertrophy of the retina pigment epithelium lesion at 2 o’clock at the equator. Photos confirm clinical findings. IMPRESSION: 1. CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM – LEFT EYE 2. CLINICAL HISTORY AND FAMILY HISTORY SUGGESTIVE OF GARDNER’S SYNDROME (FAMILIAL COLORECTAL POLYPOSIS) DISCUSSION: I explained to the mom that the lesion in the eye is benign. I took a photograph of it today and I suspect that it won’t change. I did ask her to return for a check in four months. I also asked the mother if she could come in for an evaluation. The patient is manifesting several characteristics, which are seen in patients who have familial colorectal polyposis (Gardner’s Syndrome). There is an APC gene and that is often implicated in this syndrome. It is important to establish the diagnosis in the mother and the child, since it is associated with colon cancer at a relatively young age. The patient has an appointment with a pediatric genetics doctor.