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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: 64800000
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choreremiacarrier_makl_011215_02.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58900000
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choreremiacarrier_makl_011215_03.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51000000
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choreremiacarrier_makl_011215_04.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53000000
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choreremiacarrier_makl_011215_05.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50700000
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choreremiacarrier_makl_011215_06.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52700000
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choreremiacarrier_makl_011215_07.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47300000
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choreremiacarrier_makl_011215_08.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 46800000
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choreremiacarrier_makl_011215_09.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52800000
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choreremiacarrier_makl_011215_10.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58000000
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choreremiacarrier_makl_011215_11.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 54100000
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choreremiacarrier_makl_011215_12.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 69600000
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choreremiacarrier_makl_011215_13.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51300000
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choreremiacarrier_makl_011215_14.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52700000
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choreremiacarrier_makl_011215_15.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 46000000
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choreremiacarrier_makl_011215_16.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47400000
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choreremiacarrier_makl_011215_17.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47700000
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choreremiacarrier_makl_011215_18.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47200000
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choreremiacarrier_makl_011215_19.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 45100000
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choreremiacarrier_makl_011215_20.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 45900000
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choreremiacarrier_makl_011215_21.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47200000
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choreremiacarrier_makl_011215_22.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50000000
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choreremiacarrier_makl_011215_23.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53100000
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choreremiacarrier_makl_011215_24.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51300000
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choreremiacarrier_makl_011215_25.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 55400000
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choreremiacarrier_makl_011215_26.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53200000
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choreremiacarrier_makl_011215_27.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50600000
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choreremiacarrier_makl_011215_28.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 49500000
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choreremiacarrier_makl_011215_29.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 43500000
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choreremiacarrier_makl_011215_30.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53800000
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choreremiacarrier_makl_011215_31.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 44700000
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choreremiacarrier_makl_011215_32.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50400000
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choreremiacarrier_makl_011215_33.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 55000000
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choreremiacarrier_makl_011215_34.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 49900000
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choreremiacarrier_makl_011215_35.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50500000
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choreremiacarrier_makl_011215_36.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 56700000
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choreremiacarrier_makl_011215_37.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 63300000
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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