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LETTER TO THE EDITOR
Year : 2014  |  Volume : 62  |  Issue : 8  |  Page : 897

Authors' Reply: Comment to Varied phenotype of Homocystinuria: Possible diagnostic error


Department of Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India

Date of Web Publication18-Sep-2014

Correspondence Address:
Subashini Kaliaperumal
8A, Balaji Street, Tagore Nagar, Jeevanandapuram, Puducherry - 605 008
India
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Source of Support: None, Conflict of Interest: None


PMID: 25360472

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How to cite this article:
Kaliaperumal S, Kumar K P, Bhuvaneshwari. Authors' Reply: Comment to Varied phenotype of Homocystinuria: Possible diagnostic error. Indian J Ophthalmol 2014;62:897

How to cite this URL:
Kaliaperumal S, Kumar K P, Bhuvaneshwari. Authors' Reply: Comment to Varied phenotype of Homocystinuria: Possible diagnostic error. Indian J Ophthalmol [serial online] 2014 [cited 2020 Jun 5];62:897. Available from: http://www.ijo.in/text.asp?2014/62/8/897/141074

We thank the reader for his keen interest in our article "varied phenotypic presentations of homocystinuria in two siblings." [1] We have tried to clarify his queries and comments as far as possible.

The diagnosis of the condition was based on the elevated homocysteine levels as the levels of homocysteine in these children were outside the normal range given by the manufacturer of the kit (16.02 μmol/l by using chemiluminescence ADVIA Centaur CP Immunoassay System [Siemens Healthcare Diagnostic, Germany]) used in the institute. We regret that methionine and cysteine levels could not be done nor a molecular analysis was possible as the facilities were not available in our institute, and the parent could not afford to get these tests done elsewhere. [2]

Vitamin B12 and folate levels were estimated, and they were within normal limits. Further there were no signs of Vitamin B12 and folate deficiency as child was assessed by the pediatrician. Vitamin B6 was supplemented in these children and homocysteine levels after B6 supplementation are awaited for. Clinically, there was no change.

The younger sibling had developmental delay, but intelligence assessment was within the normal limits. Hence, a presumption of B6 responsive variety was done in these siblings in lieu of homocysteine levels following B6 supplementation.

We, the authors did not mean that ectopia lentis developing before 8 years of age as a diagnostic criteria for making a diagnosis of homocystinuria. [3] Instead it was meant that ectopia lentis occurs earlier even before the diagnosis of the systemic condition.

Both the siblings were thoroughly evaluated by the treating pediatrician and Marfan's syndrome was ruled out. Neither did the siblings have any signs of nutritional deficiency.



 
  References Top

1.
Kaliaperumal S, Kumar KP, Bhuvaneshwari. Varied phenotypic presentations of homocystinuria in two siblings. Indian J Ophthalmol 2014;62:93-4.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.
Yap S.Varied phenotype of Homocystinuria: Possible diagnostic error. Indian J Ophthalmol 2014;62:835  Back to cited text no. 2
    
3.
Mulvihill A, Yap S, O'Keefe M, Howard PM, Naughten ER. Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population. J AAPOS 2001;5:311-5.  Back to cited text no. 3
    




 

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