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   Table of Contents      
Year : 2016  |  Volume : 64  |  Issue : 8  |  Page : 614

Comment on: Childhood optic atrophy in biotinidase deficiency

1 Department of Neuro-Ophthalmology, Clinic and Glaucoma Service, AG Eye Hospital, Puthur, Tiruchirappalli, Tamil Nadu, India
2 Pediatric Ophthalmology and Perimetry Centre, AG Eye Hospital, Puthur, Tiruchirappalli, Tamil Nadu, India

Date of Web Publication30-Sep-2016

Correspondence Address:
Dr. N Venugopal
No. 19, Mathuram Apartments (Behind YMCA), Officer's Colony, Puthur, Tiruchirappalli - 620 017, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.191515

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How to cite this article:
Venugopal N, Kummararaj S. Comment on: Childhood optic atrophy in biotinidase deficiency. Indian J Ophthalmol 2016;64:614

How to cite this URL:
Venugopal N, Kummararaj S. Comment on: Childhood optic atrophy in biotinidase deficiency. Indian J Ophthalmol [serial online] 2016 [cited 2023 Dec 10];64:614. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2016/64/8/614/191515


We read with interest the article titled "Etiology and clinical profile of childhood optic nerve atrophy at a tertiary eye care center in South India" by Chinta et al. [1] In this article, authors have highlighted the importance of investigations to rule out serious systemic conditions causing optic atrophy. Authors have also mentioned about socioeconomic constraints precluding extensive investigations. We appreciate authors' effort and research work.

We would like to highlight a few points regarding biotinidase deficiency (BD), which is known to cause optic atrophy. This condition is treatable with oral biotin supplementation. BD may be profound or partial. [2] Profound deficiency manifest between 3 and 6 months of age with neurological, cutaneous, and pulmonary features. Older children present with limb weakness, deafness, optic atrophy, and scotomas. The onset may be acute or insidious, with either a steady progression or a series of acute incidents interspersed with periods of apparent normality. The latter is seen with partial BD. Partial BD may cause mild symptoms during the period of stress (e.g., infection). There are few case reports of BD initially presenting with optic neuropathy and atrophy.

Hayati et al.[3] studied seven BD patients, who presented with ocular features. Six of their patients had optic atrophy. Their age ranged from 5 to 15 years. Apart from optic atrophy, optic neuritis and retrobulbar neuritis are recognized clinical manifestation of BD in older children.

A very high prevalence of inborn errors of metabolism (IEM) [4] to the extent of 1 in every thousand newborns was observed in Expanded Newborn Screening Programme, 2000, conducted at Hyderabad. Lodh et al. [5] documented 91 newborns with IEM. Thirty nine (42.8%) patients had BD. The regional incidence and prevalence rates of IEM may provide a useful guideline for the selection of appropriate investigation, thereby reducing the economic burden of the patient's family. To conclude, BD should be ruled out in older children presenting with optic atrophy, acute visual loss, scotomas, deafness, neurological symptoms, seizures, and cutaneous scars.

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There are no conflicts of interest.

  References Top

Chinta S, Wallang BS, Sachdeva V, Gupta A, Patil-Chhablani P, Kekunnaya R. Etiology and clinical profile of childhood optic nerve atrophy at a tertiary eye care center in South India. Indian J Ophthalmol 2014;62:1003-7.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
Bhardwaj P, Kaushal RK, Chandel A. Biotinidase deficiency: A treatable cause of infantile seizures. J Pediatr Neurosci 2010;5:82-3.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
Hayati AA, Wan-Hitam WH, Cheong MT, Yunus R, Shatriah I. Optic neuritis in a child with biotinidase deficiency: Case report and literature review. Clin Ophthalmol 2012;6:389-95.  Back to cited text no. 3
Kapoor S, Kabra M. Newborn screening in India: Current perspectives. Indian Pediatr 2010;47:219-24.  Back to cited text no. 4
Lodh M, Kerketta A. Inborn errors of metabolism in a tertiary care hospital of eastern India. Indian Pediatr 2013;50:1155-6.  Back to cited text no. 5


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