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Stargardt Sibling - ABCA4 2 mutations


25 year old female She has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.) We tested her and she had to variants in the ABCA4 gene. VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2 VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1 IOP: TP: OD:20 OS:21

staragdts_sycain_121622_03.jpg
 25 year old with Stargard and 2 ABCA4 mutations.217 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_01.jpg
 25 year old with Stargard and 2 ABCA4 mutations.215 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_04.jpg
 25 year old with Stargard and 2 ABCA4 mutations.219 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_02.jpg
 25 year old with Stargard and 2 ABCA4 mutations.214 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_05.jpg
 25 year old with Stargard and 2 ABCA4 mutations.218 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_07.jpg
 25 year old with Stargard and 2 ABCA4 mutations.208 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_06.jpg
 25 year old with Stargard and 2 ABCA4 mutations.214 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
genetics-sister.png
 25 year old with Stargard and 2 ABCA4 mutations.237 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_03~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.224 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_01~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.203 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_02~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.226 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_04~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.226 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_05~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.217 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_07~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.186 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
staragdts_sycain_121622_06~0.jpg
 25 year old with Stargard and 2 ABCA4 mutations.187 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
stargardsibling_ABCA4_2_.jpg
 25 year old with Stargard and 2 ABCA4 mutations.202 viewsShe has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.)
VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2
VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1
IOP: TP: OD:20 OS:2100000
(0 votes)
16 files on 1 page(s)

25 year old female She has worn glasses since she was a kid. Since she became an adult her vision started to deteriorate more rapidly. This seems to have been happening since she entered the accounting department for the last two years. Her vision is worse in the light especially when she is driving. She can see green lights in the night but not in the day. She sees better on a dark background than on a light background. Her mom is genetically visually impaired with Stargardts. Her father has RP. The mother was genetically tested in Boston about 23 years ago. That was when the gene was first being isolated. (The mother has seven brothers and sisters and four have stargardts and they are legally blind. Also one cousin has it.) We tested her and she had to variants in the ABCA4 gene. VA OD: Dcc20/160-1 PH20/80 Ncc20/200-2 VA OS: Dcc20/160-2 PH20/80-1 Ncc20/200-1 IOP: TP: OD:20 OS:21