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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: 64700000
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choreremiacarrier_makl_011215_02.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 58800000
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choreremiacarrier_makl_011215_03.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50900000
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choreremiacarrier_makl_011215_04.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52900000
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choreremiacarrier_makl_011215_05.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50500000
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choreremiacarrier_makl_011215_06.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52500000
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choreremiacarrier_makl_011215_07.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47200000
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choreremiacarrier_makl_011215_08.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 46700000
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choreremiacarrier_makl_011215_09.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52700000
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choreremiacarrier_makl_011215_10.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 57900000
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choreremiacarrier_makl_011215_11.png
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53900000
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choreremiacarrier_makl_011215_12.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 69500000
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choreremiacarrier_makl_011215_13.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51200000
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choreremiacarrier_makl_011215_14.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 52600000
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choreremiacarrier_makl_011215_15.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 45800000
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choreremiacarrier_makl_011215_16.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47000000
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choreremiacarrier_makl_011215_17.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47500000
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choreremiacarrier_makl_011215_18.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 46800000
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choreremiacarrier_makl_011215_19.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 45000000
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choreremiacarrier_makl_011215_20.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 45800000
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choreremiacarrier_makl_011215_21.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 47100000
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choreremiacarrier_makl_011215_22.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 49800000
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choreremiacarrier_makl_011215_23.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53000000
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choreremiacarrier_makl_011215_24.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 51200000
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choreremiacarrier_makl_011215_25.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 55300000
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choreremiacarrier_makl_011215_26.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53000000
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choreremiacarrier_makl_011215_27.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50500000
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choreremiacarrier_makl_011215_28.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 49300000
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choreremiacarrier_makl_011215_29.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 43200000
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choreremiacarrier_makl_011215_30.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 53600000
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choreremiacarrier_makl_011215_31.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 44600000
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choreremiacarrier_makl_011215_32.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50300000
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choreremiacarrier_makl_011215_33.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 54800000
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choreremiacarrier_makl_011215_34.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 49800000
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choreremiacarrier_makl_011215_35.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 50300000
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choreremiacarrier_makl_011215_36.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 56600000
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choreremiacarrier_makl_011215_37.jpg
 Choroideremia - Female Carrier - Patchy Atrophy of Choroid and RPE - Lyonizationvaatamisi: 63100000
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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