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Suggest Tests To Confirm The Diagnosis Of PHPV
Question: - I have a two month old baby who has been diagnosed with Bilateral Persistent hyperplastic primary vitreous (PHPV) or Familial Exudative Vitreo-retinopathy (FEVR) which is a rare congenital developmental anomaly of the eye that results following failure of the embryological, primary vitreous and hyaloid vasculature to regress.
- Two years back my earlier son (First son) , when he was four months old, he also was diagnosed with Bilateral Persistent hyperplastic primary vitreous (PHPV) or Familial Exudative Vitreo-retinopathy (FEVR)
How can we firm up the exact reasons to diagnose(whether it is PHPV or FEVR) ? And how can it be avoided while planning next baby in future (in case it is feasible)
- Two years back my earlier son (First son) , when he was four months old, he also was diagnosed with Bilateral Persistent hyperplastic primary vitreous (PHPV) or Familial Exudative Vitreo-retinopathy (FEVR)
How can we firm up the exact reasons to diagnose(whether it is PHPV or FEVR) ? And how can it be avoided while planning next baby in future (in case it is feasible)
Brief Answer:
This looks like FEVR.
Detailed Answer:
Hello
Welcome to Health care magic
I am Dr. DADAPEER K, an Ophthalmologist and I will be answering your question.
I reviewed your history.
I can understand your concerns.
I will try sincerely to help you.
FEVR is usually a bilateral condition and involves the peripheral retina resulting in retinal neovascularization.
Most of these are inherited by autosomal dominant inheritance.
PHPV is usually a unilateral condition and affects whole of the eye.
From the history this appears more like FEVR.
However retinal examination by indirect ophthalmoscopy will confirm the diagnosis.
Hence first we should confirm the diagnosis and this can be done by examination of retina of both the parents of the affected children to look for signs of retinal avascularization and if present this confirms FEVR.
Rarely in autosomal recessive inheritance this may yield negative result.
The next step is genetic analysis to look for the gene mutation involving FZD4 gene.
Usually the risk of transmission is 50%.
However 90% of the people with this disease does not require treatment except for follow up.
Along with these TORCH group of infection needs to be ruled out.
Hence I advice you to consult your doctor for these tests and confirmation of diagnosis, so that further treatment can be planned.
Hope I have answered your question and the information is helpful to you.
Do write back to me for further questions.
Thank you
This looks like FEVR.
Detailed Answer:
Hello
Welcome to Health care magic
I am Dr. DADAPEER K, an Ophthalmologist and I will be answering your question.
I reviewed your history.
I can understand your concerns.
I will try sincerely to help you.
FEVR is usually a bilateral condition and involves the peripheral retina resulting in retinal neovascularization.
Most of these are inherited by autosomal dominant inheritance.
PHPV is usually a unilateral condition and affects whole of the eye.
From the history this appears more like FEVR.
However retinal examination by indirect ophthalmoscopy will confirm the diagnosis.
Hence first we should confirm the diagnosis and this can be done by examination of retina of both the parents of the affected children to look for signs of retinal avascularization and if present this confirms FEVR.
Rarely in autosomal recessive inheritance this may yield negative result.
The next step is genetic analysis to look for the gene mutation involving FZD4 gene.
Usually the risk of transmission is 50%.
However 90% of the people with this disease does not require treatment except for follow up.
Along with these TORCH group of infection needs to be ruled out.
Hence I advice you to consult your doctor for these tests and confirmation of diagnosis, so that further treatment can be planned.
Hope I have answered your question and the information is helpful to you.
Do write back to me for further questions.
Thank you
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thank you doctor !
Let me further share details with you.
1. In order to rule out any infection, we recently did Torch test and no issues were found in that
2. Meantime, we are awaiting our karyotyping results for all three of us ( Myself, my wife and our younger Son) for which reports are expected in a week.
now, can you elaborate more on your below comment ?
" Hence first we should confirm the diagnosis and this can be done by examination of retina of both the parents of the affected children to look for signs of retinal avascularization and if present this confirms FEVR "
Through which test this is generally done ? How this is done and where ?
Please advise.Also, If it is FEVR, Can it be avoided (genetically) by any chance while planning our next baby ?
Thanks
XXXXXX
Let me further share details with you.
1. In order to rule out any infection, we recently did Torch test and no issues were found in that
2. Meantime, we are awaiting our karyotyping results for all three of us ( Myself, my wife and our younger Son) for which reports are expected in a week.
now, can you elaborate more on your below comment ?
" Hence first we should confirm the diagnosis and this can be done by examination of retina of both the parents of the affected children to look for signs of retinal avascularization and if present this confirms FEVR "
Through which test this is generally done ? How this is done and where ?
Please advise.Also, If it is FEVR, Can it be avoided (genetically) by any chance while planning our next baby ?
Thanks
XXXXXX
Brief Answer:
Examination of retina is done by an ophthalmologist.
Detailed Answer:
Hello
Thank you for the follow up question.
Since TORCH titres have come negative this rules out infectious cause.
The retinal examination is done by ophthalmologist after dilating the pupil by a procedure called as ophthalmoscopy. This will help in finding out the asymptomatic family members as 90% of these are asymptomatic. Since this condition is autosomal dominant family members will show peripheral avascular retina.
This can be done by any ophthalmologist or preferably by a retinal specialist as an out patient procedure.
After confirming the diagnosis genetic counselling can be planned.
Hope I have answered your question and the information is helpful to you.
Do write back to me for further questions.
Thank you
Examination of retina is done by an ophthalmologist.
Detailed Answer:
Hello
Thank you for the follow up question.
Since TORCH titres have come negative this rules out infectious cause.
The retinal examination is done by ophthalmologist after dilating the pupil by a procedure called as ophthalmoscopy. This will help in finding out the asymptomatic family members as 90% of these are asymptomatic. Since this condition is autosomal dominant family members will show peripheral avascular retina.
This can be done by any ophthalmologist or preferably by a retinal specialist as an out patient procedure.
After confirming the diagnosis genetic counselling can be planned.
Hope I have answered your question and the information is helpful to you.
Do write back to me for further questions.
Thank you
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thanks for your quick response. It is really helpful.
is this required to be done for parents (which is me and my wife in this case)
what are the general causes for retinal avascularization (especially when both of us do not have any diabetic condition) ?
is this required to be done for parents (which is me and my wife in this case)
what are the general causes for retinal avascularization (especially when both of us do not have any diabetic condition) ?
Brief Answer:
The test needs to be done in yourself and your wife and children.
Detailed Answer:
Hello
Thank you for the follow up question.
The retinal examination needs to be in all the family members in this case the test needs to be done in you, your wife and your children.
Diabetes will cause retinal vascularization whereas here we are looking for absence of retinal vascularization in periphery of retina.
Hope I have answered your question and the information is helpful to you.
Do write back to me for further questions.
Thank you
The test needs to be done in yourself and your wife and children.
Detailed Answer:
Hello
Thank you for the follow up question.
The retinal examination needs to be in all the family members in this case the test needs to be done in you, your wife and your children.
Diabetes will cause retinal vascularization whereas here we are looking for absence of retinal vascularization in periphery of retina.
Hope I have answered your question and the information is helpful to you.
Do write back to me for further questions.
Thank you
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thank you Doctor. Appreciate your assistance. It was a great help !
Brief Answer:
Thank you
Detailed Answer:
Thank you for writing to me on health care magic.
With regards
Thank you
Detailed Answer:
Thank you for writing to me on health care magic.
With regards
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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