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Child with delayed developmental milestone. Eyesight not clear, diagnosed with retinitis pigmentos. Suggestion?

2 and half year male baby having delayed developmental milestone, decrease hearing and Nystagmns.Delivered by LSCS for post dated pregnancy.Mother was treated for Allergic Manifestation at 8 month period of Gestation with tab Loratidine .inj phenargan lamp, tab cetrizine and omnacortol 1 week. Baby developed fever on 12th day after birth was treated with IV Ampicillin and Gentamycin for 5 days.Also treated for Pneumonia for 2 episodes later on. Feeding: For 6 month –EBM feeding Weight of Baby: 15 kg HC: 45cm Parents noticed no eye contact and delayed development so consulted to pediatrician . Investigation: USG-head: Normal MRI-Head: Normal TORCH (IGM/IGG): Cytomegalovirus +ve IGG (ELISA) Also consulted to ophthalmologist: Recommended glass +4/+0.5..90 degree Also having decreased hearing- Diagnosed as B/L OME on initial investigation by ENT-surgen operated at Tribhuban University Teaching Hospital at nepal and having ABR testing .These days there is no hearing problem and it is normal . Present problem: Eye contact Minimal Baby can detect the light and follow it but could not see the object still. Recently there is an evaluation of Eye under EUA at Teaching hospital and pediatric ophthalmologist diagnosis retinitis pigmentosa . After this Flash –VEP was taken. i would like to request you to give me a valuable sugestion. thanks.
Asked On : Sun, 8 Jul 2012
Answers:  1 Views:  86
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Ophthalmologist 's  Response
as per yr details u under proper physician and group of doctors..its advisable that have full confidence in yr doctors..
just to inform u that retinitis pigmentosa is a rare, genetic disorder but disease for which cure is not available till date we scientist r working on it and some good news about treatment modalities have come up but still not available for commercial use for general public.recently it was in news in times of india .there is discovery / a ray of hope since the we r able to grow stem cells /cells of retina i.e the cells which can later replace the defective cells , and also there is also gene therapy i.e to change the defective genes which is responsible for this condition..but for the treatment for practical application and to bring it for public..will take some time..
so its my advice to get all the family members screened for the condition, get the genetic typing of the that the exact defect and which genes r defective can be studied..go for genetic councilling by microbiologist, before and after marriage so that the couple should not have the same disease in any form, and since x linked character in this can avoid male child in which the expression of this disese would be more severe..
thanks to a science called genetic engineering..but lots of more work has to be done..
occupational and physiotherapy whn the child grows up.
Answered: Fri, 20 Jul 2012
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