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12-year-old was seen in the office on 4/29/2011. She was in for an evaluation. Her vision is perfectly fine. She sees fine in bright lights and she sees fine in dim lights. She was noticing when she was reading, the images seemed to jump around a little bit. She 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. IOP: OD 14, OS 15. The color vision is normal. The Amsler grid is normal. The pupil response is normal. SLIT LAMP EXAM: Normal with clear lenses. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.2. There is no posterior vitreous separation. There is minimal hyperpigmentation to the macula with some granularity of the macular pigment. OS: Vertical C/D ratio is 0.2. There is no posterior vitreous separation. There is some granularity to the macula. There is no evidence of any drusen though nor is there any pigment atrophy. PHOTOGRAPHS: Photos confirm clinical findings. FLUORESCEIN ANGIOGRAPHY: The FA shows some irregular hyperfluorescence in the macula, which is mostly of a transmission than a blockage suggesting that there is some loss of pigmentation of the retinal pigment epithelium. OCT SCAN: The OCT scans are normal. I checked the mother’s eyes and they look exactly the same. 1. IRREGULAR MACULAR DEPIGMENTATION – BOTH EYES 2. POSSIBLE VARIANT OF CUTICULAR OR LAMINAR DRUSEN DISCUSSION: I explained to the patient and her mother that the retinas are abnormal but they are exactly the same. The fact that the mother has good vision suggests that whatever she has is benign. The closest disease I can link it to is cuticular drusen, which is autosomal dominant but generally manifest with more pinpoint areas of depigmentation whereas their areas are more diffuse. They are both lightly pigmented but this is not consistent with albinism. There is not any foveal aplasia nor is there is any loss on the angiogram of the foveal avascular zone.

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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity119 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity102 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity80 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity76 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity75 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity58 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity96 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity88 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity63 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity62 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity64 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity45 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity47 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity55 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity67 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity54 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity74 views12-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.
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macpigmentdaughter23.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity54 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity48 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity64 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity72 views12-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.
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity108 viewsMothers macular photos00000
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity125 viewsMothers macular photos00000
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity139 viewsMothers macular photos00000
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Pigmented Maculae - Mother and Daughter - Normal Visual Acuity158 viewsMothers macular photos00000
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12-year-old was seen in the office on 4/29/2011. She was in for an evaluation. Her vision is perfectly fine. She sees fine in bright lights and she sees fine in dim lights. She was noticing when she was reading, the images seemed to jump around a little bit. She 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. IOP: OD 14, OS 15. The color vision is normal. The Amsler grid is normal. The pupil response is normal. SLIT LAMP EXAM: Normal with clear lenses. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.2. There is no posterior vitreous separation. There is minimal hyperpigmentation to the macula with some granularity of the macular pigment. OS: Vertical C/D ratio is 0.2. There is no posterior vitreous separation. There is some granularity to the macula. There is no evidence of any drusen though nor is there any pigment atrophy. PHOTOGRAPHS: Photos confirm clinical findings. FLUORESCEIN ANGIOGRAPHY: The FA shows some irregular hyperfluorescence in the macula, which is mostly of a transmission than a blockage suggesting that there is some loss of pigmentation of the retinal pigment epithelium. OCT SCAN: The OCT scans are normal. I checked the mother’s eyes and they look exactly the same. 1. IRREGULAR MACULAR DEPIGMENTATION – BOTH EYES 2. POSSIBLE VARIANT OF CUTICULAR OR LAMINAR DRUSEN DISCUSSION: I explained to the patient and her mother that the retinas are abnormal but they are exactly the same. The fact that the mother has good vision suggests that whatever she has is benign. The closest disease I can link it to is cuticular drusen, which is autosomal dominant but generally manifest with more pinpoint areas of depigmentation whereas their areas are more diffuse. They are both lightly pigmented but this is not consistent with albinism. There is not any foveal aplasia nor is there is any loss on the angiogram of the foveal avascular zone.