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Suggest Tests To Confirm The Diagnosis Of Persistent Hyperplastic Primary Vitreous
Question: Hi,
I have a two month old baby who has been diagnosed with Bilateral Persistent hyperplastic primary vitreous (PHPV) OR Familial Exudative Vitreo-retinopathy
- 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)
attached are the reports
How can we firm up the exact cause whether it is PHPV or FEVR ? what are the diagnosis available ?
Can it be avoided next time in case we plan for a baby again ?
Rgds,
XXXXXX
I have a two month old baby who has been diagnosed with Bilateral Persistent hyperplastic primary vitreous (PHPV) OR Familial Exudative Vitreo-retinopathy
- 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)
attached are the reports
How can we firm up the exact cause whether it is PHPV or FEVR ? what are the diagnosis available ?
Can it be avoided next time in case we plan for a baby again ?
Rgds,
XXXXXX
Brief Answer:
Genetic testing and regular followups.
Detailed Answer:
Hello,
Welcome to HealthcareMagic.com
FEVR is a relatively rare inherited disorder of retinal angiogenesis(new vessel formation).
FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease.
The diagnosis is commonly confused with PHPV and Retinopathy of Prematurity(ROP).
The main differentiating feature being that FEVR is a progressive disorder and PHPV does not progress any further. In case of ROP there will be a history of pre mature birth.
Further diagnosis can be confirmed by genetic testing.Five genes have been identified that when mutated, cause FEVR;
1. NDP (X-linked)
2. FZD4 (autosomal dominant and recessive), 3. LRP5 (autosomal dominant and recessive), 4. TSPAN12 (autosomal dominant and recessive),
5. ZNF408 (autosomal dominant)
The gene mutation directly implicated in PHPV is ATOH7.Which makes ATOH7 an excellent candidate gene for screening in FEVR. Kindly consult your ophthalmologist with access to genetic testing in this regard.
Most patients with FEVR have good visual acuity with approximately 60-70% patients have a vision of 6/12 or better. Children and adolescents(as in your case) diagnosed with the disease have a poorer visual prognosis when compared with adults.Retinal detachments and retinal folds being the main causes of reduced vision.
As of now pre natal diagnosis of FEVR has not been in practice. Research in this regards is going on.
Genetic testing and regular followups.
Detailed Answer:
Hello,
Welcome to HealthcareMagic.com
FEVR is a relatively rare inherited disorder of retinal angiogenesis(new vessel formation).
FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease.
The diagnosis is commonly confused with PHPV and Retinopathy of Prematurity(ROP).
The main differentiating feature being that FEVR is a progressive disorder and PHPV does not progress any further. In case of ROP there will be a history of pre mature birth.
Further diagnosis can be confirmed by genetic testing.Five genes have been identified that when mutated, cause FEVR;
1. NDP (X-linked)
2. FZD4 (autosomal dominant and recessive), 3. LRP5 (autosomal dominant and recessive), 4. TSPAN12 (autosomal dominant and recessive),
5. ZNF408 (autosomal dominant)
The gene mutation directly implicated in PHPV is ATOH7.Which makes ATOH7 an excellent candidate gene for screening in FEVR. Kindly consult your ophthalmologist with access to genetic testing in this regard.
Most patients with FEVR have good visual acuity with approximately 60-70% patients have a vision of 6/12 or better. Children and adolescents(as in your case) diagnosed with the disease have a poorer visual prognosis when compared with adults.Retinal detachments and retinal folds being the main causes of reduced vision.
As of now pre natal diagnosis of FEVR has not been in practice. Research in this regards is going on.
Above answer was peer-reviewed by :
Dr. Shanthi.E
Thank You. This information was really useful!
Brief Answer:
Further quries.
Detailed Answer:
Please get back to us if you have any further queries.
Further quries.
Detailed Answer:
Please get back to us if you have any further queries.
Above answer was peer-reviewed by :
Dr. Pradeep Vitta
Answered by
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