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Suggest Treatment For FEVR
Question: hi, I need Genetic counseling since our son has been diagnosed with Familial exudative vitreoretinopathy (FEVR)
Brief Answer:
More details required
Detailed Answer:
Thanks for asking on Health Care Magic.
FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina, and can easily be confused with retinopathy of prematurity in premature infants. So, before I can start explaining, I would need the following details:
* whether the child was born preterm, if so, how early?
* any complications at birth, any requirement of oxygen therapy?
* birth weight
* presenting complaints
* reasons and methods for making the diagnosis
* any family history
* any siblings
I have gone through the chromosomal analysis. In case of a single gene disorder like this, karyotyping will not help. Rather DNA amplification of part or whole genome needs to be done followed by PCR (Polymerase chain reaction) to make the diagnosis. Unless that or some similar method has been applied, the diagnosis cannot be made.
Genetic counseling is a process that involves handling a lot of parameters as well as one to one interaction face to face. Although I can try to help you out, it will not count as a genetic counseling.
I hope you understand.
Regards
Dr. Diptanshu Das
More details required
Detailed Answer:
Thanks for asking on Health Care Magic.
FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina, and can easily be confused with retinopathy of prematurity in premature infants. So, before I can start explaining, I would need the following details:
* whether the child was born preterm, if so, how early?
* any complications at birth, any requirement of oxygen therapy?
* birth weight
* presenting complaints
* reasons and methods for making the diagnosis
* any family history
* any siblings
I have gone through the chromosomal analysis. In case of a single gene disorder like this, karyotyping will not help. Rather DNA amplification of part or whole genome needs to be done followed by PCR (Polymerase chain reaction) to make the diagnosis. Unless that or some similar method has been applied, the diagnosis cannot be made.
Genetic counseling is a process that involves handling a lot of parameters as well as one to one interaction face to face. Although I can try to help you out, it will not count as a genetic counseling.
I hope you understand.
Regards
Dr. Diptanshu Das
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Just to answer some of your queries, please find reply
* whether the child was born preterm, if so, how early? he was born full term through normal delivery
* any complications at birth, any requirement of oxygen therapy? Nil complications
* birth weight : 3.3 Kg
* presenting complaints : Nil complaints
* reasons and methods for making the diagnosis : through Vetroretinal specialist. diagnosed to have bilateral retinal detachment
* any family history : No family history
* any siblings ; Earlier son also diagnosed with same who is two year old now
now, we have submitted the blood sample of our son for molecular study (for FEVR and Norrie). Please advise if the process is right and anything in case we are missing.
* whether the child was born preterm, if so, how early? he was born full term through normal delivery
* any complications at birth, any requirement of oxygen therapy? Nil complications
* birth weight : 3.3 Kg
* presenting complaints : Nil complaints
* reasons and methods for making the diagnosis : through Vetroretinal specialist. diagnosed to have bilateral retinal detachment
* any family history : No family history
* any siblings ; Earlier son also diagnosed with same who is two year old now
now, we have submitted the blood sample of our son for molecular study (for FEVR and Norrie). Please advise if the process is right and anything in case we are missing.
Brief Answer:
Diagnosis proceeding in right direction
Detailed Answer:
Thanks for writing back.
Based on the details, retinopathy of prematurity can be ruled out.
Norrie disease is a genetic disorder caused by mutations in the NDP gene, located on Xp11.4 (GeneID: 4693). It is inherited in an X-linked recessive manner. This means that almost only males are affected. Sons of affected men will not have the mutation, while all of their daughters will be genetic carriers of the mutation. They also usually show no clinical symptoms, but will inherit the mutation to 50% of their offspring. Daughters receiving the mutated gene will also be, like their mother, asymptomatic carriers, but 50% of their sons will express clinical symptoms.
On the other hand FEVR is a condition caused due to defect in any of the following 5 genes:
EVR1 (133780) Gene FZD4 Locus 11q14-q21
EVR2 (305390)Gene NDP Locus Xp11.4
EVR3 (605750) Locus 11p13-p12
EVR4 (601813) Gene LRP5 Locus 11q13.4
EVR5 (613310) Gene TSPAN12 Locus 7q31
The diagnosis is proceeding in the right direction. Please wait for the reports and share them with me as they become available and I would be happy to help you further.
Regards
Dr. Diptanshu Das
Diagnosis proceeding in right direction
Detailed Answer:
Thanks for writing back.
Based on the details, retinopathy of prematurity can be ruled out.
Norrie disease is a genetic disorder caused by mutations in the NDP gene, located on Xp11.4 (GeneID: 4693). It is inherited in an X-linked recessive manner. This means that almost only males are affected. Sons of affected men will not have the mutation, while all of their daughters will be genetic carriers of the mutation. They also usually show no clinical symptoms, but will inherit the mutation to 50% of their offspring. Daughters receiving the mutated gene will also be, like their mother, asymptomatic carriers, but 50% of their sons will express clinical symptoms.
On the other hand FEVR is a condition caused due to defect in any of the following 5 genes:
EVR1 (133780) Gene FZD4 Locus 11q14-q21
EVR2 (305390)Gene NDP Locus Xp11.4
EVR3 (605750) Locus 11p13-p12
EVR4 (601813) Gene LRP5 Locus 11q13.4
EVR5 (613310) Gene TSPAN12 Locus 7q31
The diagnosis is proceeding in the right direction. Please wait for the reports and share them with me as they become available and I would be happy to help you further.
Regards
Dr. Diptanshu Das
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thank you Doctor. I will touch base with you again once the results are available.
Brief Answer:
I will try to guide you
Detailed Answer:
I will await the reports.
I will try to guide you
Detailed Answer:
I will await the reports.
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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