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68-year-old woman was seen in the office on October 4, 2012. She was seen at the University of Michigan Eye Clinic. She had poor vision. She was noticing especially going into movie theater at night, she couldn’t see things. She has extremely poor night vision. That was in the late 1990’s. Stargardt’s was mentioned at one point, but then she didn’t exactly fit into any category and they actually thought maybe she had a unique type of macular dystrophy. She can see straight ahead, but there is an absent area around that, worse in the right eye than the left eye. Update: 5 years later her vision is still 20/25 in each eye! Now she has had cataract surgery done in both eyes and there is some issue about macular edema. She has been treated recently as well as for macular degeneration. She is on eye vitamins because of that. She is currently on Ketorolac, Alphagan, and Restasis. There is also an issue as to whether or not she has normal tension glaucoma, because there was a hemorrhage on the optic nerve in the left eye. She is concerned about the macular degeneration and the glaucoma and the idea that she might go blind. She does have a positive family history for macular vision loss. She doesn’t know about her mother’s vision. Her mother has since passed away. Her mother’s brother though did have vision loss at a young age and her mother’s brother’s son, which is her first cousin, also has macular disease. Her mother’s brother’s son is the same age as her and has a similar type of vision loss. She also notices a doughnut of vision loss in her vision. VISUAL ACUITY: OD 20/25, OS 20/20. IOP: OD 10, OS 9. SLIT EXAMINATION: The posterior chamber intraocular lens is in good position in both eyes with open capsules. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.6. The nerve is pale. There is a posterior vitreous separation and concentric geographic atrophy sparing the fovea. OS: Vertical C/D ratio is 0.6. There is a posterior vitreous separation. The nerve is pale. There is concentric geographic atrophy sparing the center of the fovea. PHOTOS: The color photos show the concentric geographic atrophy with minimal optic nerve pallor. FUNDUS PHOTOGRAPHY - AUTO FLUORESCENCE: The auto fluorescence images show hypo auto fluorescence in exactly a symmetric area, consuming much of the macular tissue centrally, but sparing a central island, which in the right eye measures 1.3 mm2 and the left eye measures 1.5 mm2. Outside of the area of hypofluorescence, there is some stippled hyperfluorescence, but overall the tissue looks reasonably normal. There is no attenuation of the retinal vessels. FUNDUS PHOTOGRAPHY - INFRA RED: The images similarly show hypopigmentation of this tissue surrounding the center of the macula. SPECTRALIS-SD-OCT SCAN: The nerve fiber layer scan show normal thickness in the nasal nerve fiber layer. The nerve fiber layer scan had trouble tracing her temporal nerve fiber, so the average thicknesses are low in both eyes. The right eye being 70 microns and the left eye being 75 microns, but looking at the actual scans themselves, it doesn’t look like the temporal nerve fiber layer is too bad. I do not think she probably has normal tension glaucoma. The macular scans show severe loss of the outer retina sparing an area centrally, which is slightly thicker than average. The average thickness in the center of the macula in the right eye being 328 microns and in the left eye there are 328 microns. IMPRESSION: 1. DYSTROPHIC MACULAR ATROPHY – BOTH EYES AUTOSOMAL DOMINANT 2. POSSIBLE VARIANT OF STARGARDT’S DISEASE 3. POSSIBLE SEVERE VARIANT OF BENIGN ANNULAR CONCENTRIC MACULAR DYSTROPHY 4. MINIMAL RETINAL THICKENING – BOTH EYES, POSSIBLY DYSTROPHIC, POSSIBLY PSEUDOPHAKIC 5. MILD OPTIC NERVE ATROPHY, POSSIBLY NORMAL TENSION GLAUCOMA, BUT PROBABLY MORE REFLECTIVE OF SEVERE RETINAL DISEASE DISCUSSION: I explained to the patient given the symmetry of the concentric retinal atrophy in both eyes and loss of the photoreceptors and all the testing, her history and her family history, it looks like she most likely has a macular dystrophy. I could see where there was some difficulty categorizing her. She doesn’t exactly fit into any categories. She maybe an autosomal dominant variant of Stargardt’s disease and I suggested, because there are treatment trials starting for genetic replacement therapy for Stargardt’s disease, that we consider sending off her blood specimen to Carver Lab for both her and her cousin and possibly her uncle to see if they can pin down the exact locus of the gene abnormality in her. That may have clinical implications in the future towards possible therapy. In the meantime I suggested taking eye vitamins, Lutein and omega 3 fatty acids. I told her to continue the Ketorolac once a day and I told her I would defer to your judgment on the Alphagan. Alphagan is a relatively safe drop, also it may have protective elements and I don’t think there is any reason not to try it in her. In the meantime I asked her to return here for a check in about two or three months and to return urgently if she notices a problem in either eye.

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68-year-old woman was seen in the office on October 4, 2012. She was seen at the University of Michigan Eye Clinic. She had poor vision. She was noticing especially going into movie theater at night, she couldn’t see things. She has extremely poor night vision. That was in the late 1990’s. Stargardt’s was mentioned at one point, but then she didn’t exactly fit into any category and they actually thought maybe she had a unique type of macular dystrophy. She can see straight ahead, but there is an absent area around that, worse in the right eye than the left eye. Update: 5 years later her vision is still 20/25 in each eye! Now she has had cataract surgery done in both eyes and there is some issue about macular edema. She has been treated recently as well as for macular degeneration. She is on eye vitamins because of that. She is currently on Ketorolac, Alphagan, and Restasis. There is also an issue as to whether or not she has normal tension glaucoma, because there was a hemorrhage on the optic nerve in the left eye. She is concerned about the macular degeneration and the glaucoma and the idea that she might go blind. She does have a positive family history for macular vision loss. She doesn’t know about her mother’s vision. Her mother has since passed away. Her mother’s brother though did have vision loss at a young age and her mother’s brother’s son, which is her first cousin, also has macular disease. Her mother’s brother’s son is the same age as her and has a similar type of vision loss. She also notices a doughnut of vision loss in her vision. VISUAL ACUITY: OD 20/25, OS 20/20. IOP: OD 10, OS 9. SLIT EXAMINATION: The posterior chamber intraocular lens is in good position in both eyes with open capsules. EXTENDED OPHTHALMOSCOPY: OD: Vertical C/D ratio is 0.6. The nerve is pale. There is a posterior vitreous separation and concentric geographic atrophy sparing the fovea. OS: Vertical C/D ratio is 0.6. There is a posterior vitreous separation. The nerve is pale. There is concentric geographic atrophy sparing the center of the fovea. PHOTOS: The color photos show the concentric geographic atrophy with minimal optic nerve pallor. FUNDUS PHOTOGRAPHY - AUTO FLUORESCENCE: The auto fluorescence images show hypo auto fluorescence in exactly a symmetric area, consuming much of the macular tissue centrally, but sparing a central island, which in the right eye measures 1.3 mm2 and the left eye measures 1.5 mm2. Outside of the area of hypofluorescence, there is some stippled hyperfluorescence, but overall the tissue looks reasonably normal. There is no attenuation of the retinal vessels. FUNDUS PHOTOGRAPHY - INFRA RED: The images similarly show hypopigmentation of this tissue surrounding the center of the macula. SPECTRALIS-SD-OCT SCAN: The nerve fiber layer scan show normal thickness in the nasal nerve fiber layer. The nerve fiber layer scan had trouble tracing her temporal nerve fiber, so the average thicknesses are low in both eyes. The right eye being 70 microns and the left eye being 75 microns, but looking at the actual scans themselves, it doesn’t look like the temporal nerve fiber layer is too bad. I do not think she probably has normal tension glaucoma. The macular scans show severe loss of the outer retina sparing an area centrally, which is slightly thicker than average. The average thickness in the center of the macula in the right eye being 328 microns and in the left eye there are 328 microns. IMPRESSION: 1. DYSTROPHIC MACULAR ATROPHY – BOTH EYES AUTOSOMAL DOMINANT 2. POSSIBLE VARIANT OF STARGARDT’S DISEASE 3. POSSIBLE SEVERE VARIANT OF BENIGN ANNULAR CONCENTRIC MACULAR DYSTROPHY 4. MINIMAL RETINAL THICKENING – BOTH EYES, POSSIBLY DYSTROPHIC, POSSIBLY PSEUDOPHAKIC 5. MILD OPTIC NERVE ATROPHY, POSSIBLY NORMAL TENSION GLAUCOMA, BUT PROBABLY MORE REFLECTIVE OF SEVERE RETINAL DISEASE DISCUSSION: I explained to the patient given the symmetry of the concentric retinal atrophy in both eyes and loss of the photoreceptors and all the testing, her history and her family history, it looks like she most likely has a macular dystrophy. I could see where there was some difficulty categorizing her. She doesn’t exactly fit into any categories. She maybe an autosomal dominant variant of Stargardt’s disease and I suggested, because there are treatment trials starting for genetic replacement therapy for Stargardt’s disease, that we consider sending off her blood specimen to Carver Lab for both her and her cousin and possibly her uncle to see if they can pin down the exact locus of the gene abnormality in her. That may have clinical implications in the future towards possible therapy. In the meantime I suggested taking eye vitamins, Lutein and omega 3 fatty acids. I told her to continue the Ketorolac once a day and I told her I would defer to your judgment on the Alphagan. Alphagan is a relatively safe drop, also it may have protective elements and I don’t think there is any reason not to try it in her. In the meantime I asked her to return here for a check in about two or three months and to return urgently if she notices a problem in either eye.