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Choroideremia - Carrier - Lyonization - X-Chromosome Inactivation


73 year old female with choroideremia (carrier). She has her father with choroideremia. She has noticed distortion in the right eye for 4 months. She had never been told her retinas were abnormal. VA 20/80 OD, 20/32 OS
choreremiacarrier_makl_011215_01.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 72300000
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choreremiacarrier_makl_011215_02.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 67000000
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choreremiacarrier_makl_011215_03.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58300000
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choreremiacarrier_makl_011215_04.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 59500000
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choreremiacarrier_makl_011215_05.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58700000
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choreremiacarrier_makl_011215_06.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 60600000
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choreremiacarrier_makl_011215_07.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52300000
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choreremiacarrier_makl_011215_08.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50800000
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choreremiacarrier_makl_011215_09.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 59400000
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choreremiacarrier_makl_011215_10.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 64200000
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choreremiacarrier_makl_011215_11.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 62700000
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choreremiacarrier_makl_011215_12.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 77600000
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choreremiacarrier_makl_011215_13.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 59100000
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choreremiacarrier_makl_011215_14.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 63900000
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choreremiacarrier_makl_011215_15.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52500000
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choreremiacarrier_makl_011215_16.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 54100000
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choreremiacarrier_makl_011215_17.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 55000000
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choreremiacarrier_makl_011215_18.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51500000
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choreremiacarrier_makl_011215_19.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51800000
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choreremiacarrier_makl_011215_20.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52500000
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choreremiacarrier_makl_011215_21.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 54200000
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choreremiacarrier_makl_011215_22.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 56000000
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choreremiacarrier_makl_011215_23.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 62000000
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choreremiacarrier_makl_011215_24.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58500000
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choreremiacarrier_makl_011215_25.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 61900000
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choreremiacarrier_makl_011215_26.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 60500000
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choreremiacarrier_makl_011215_27.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 54500000
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choreremiacarrier_makl_011215_28.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 56400000
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choreremiacarrier_makl_011215_29.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50800000
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choreremiacarrier_makl_011215_30.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 60700000
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choreremiacarrier_makl_011215_31.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52800000
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choreremiacarrier_makl_011215_32.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58800000
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choreremiacarrier_makl_011215_33.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 62000000
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choreremiacarrier_makl_011215_34.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58000000
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choreremiacarrier_makl_011215_35.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 57500000
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choreremiacarrier_makl_011215_36.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 64800000
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choreremiacarrier_makl_011215_37.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 71300000
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37 faili 1 lehel

73 year old female with choroideremia (carrier). She has her father with choroideremia. She has noticed distortion in the right eye for 4 months. She had never been told her retinas were abnormal. VA 20/80 OD, 20/32 OS