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Most viewed - Pigmented Macula Mother and Daughter

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.

macpigmentdaughter01.jpg
876 views
macpigmentmom04.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity762 viewsMothers macular photos
macpigmentdaughter02.jpg
707 views
macpigmentdaughter13.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity700 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.
macpigmentmom03.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity653 viewsMothers macular photos
macpigmentdaughter04.jpg
638 views
macpigmentdaughter03.jpg
632 views
macpigmentmom02.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity626 viewsMothers macular photos
macpigmentdaughter11.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity625 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.
macpigmentdaughter10.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity623 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.
macpigmentdaughter05.jpg
621 views
macpigmentdaughter06.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity616 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.
macpigmentdaughter12.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity615 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.
macpigmentdaughter09.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity613 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.
macpigmentdaughter07.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity594 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.
macpigmentdaughter08.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity590 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.
macpigmentdaughter26.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity574 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.
macpigmentmom01.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity571 viewsMothers macular photos
macpigmentdaughter25.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity563 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.
macpigmentdaughter20.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity561 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.
macpigmentdaughter22.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity559 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.
macpigmentdaughter21.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity555 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.
macpigmentdaughter16.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity550 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.
macpigmentdaughter19.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity542 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.
macpigmentdaughter23.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity542 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.
macpigmentdaughter17.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity534 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.
macpigmentdaughter24.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity529 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.
macpigmentdaughter14.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity524 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.
macpigmentdaughter18.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity506 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.
macpigmentdaughter15.jpg
Pigmented Maculae - Mother and Daughter - Normal Visual Acuity503 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.
   
30 files on 1 page(s)

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.