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LETTER TO THE EDITOR
Year : 2020  |  Volume : 23  |  Issue : 6  |  Page : 821
 

Visual loss in biotinidase deficiency


Neuro-Ophthalmology Clinic and Glaucoma Service, AG Eye Hospital, Puthur, Trichy, Tamil Nadu, India

Date of Submission05-Oct-2019
Date of Acceptance13-Oct-2019
Date of Web Publication19-Dec-2019

Correspondence Address:
Dr. Nataraja P Venugopal
Neuro-Ophthalmology Clinic and Glaucoma Service, AG Eye Hospital, Puthur, Trichy, Tamil Nadu - 620 017
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.AIAN_503_19

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How to cite this article:
Venugopal NP. Visual loss in biotinidase deficiency. Ann Indian Acad Neurol 2020;23:821

How to cite this URL:
Venugopal NP. Visual loss in biotinidase deficiency. Ann Indian Acad Neurol [serial online] 2020 [cited 2021 Jan 21];23:821. Available from: https://www.annalsofian.org/text.asp?2020/23/6/821/273579




We read with interest the article titled “Subacute Myelopathy: Think Beyond Neuromyelitis Optica Spectrum disorder” by Kasinathan et al.[1] Authors have highlighted the significance of high index of suspicion in diagnosing late onset Biotinidase deficiency (BD). We appreciate the author's effort and research. We would like to highlight few points on late onset BD from neuro-ophthalmic perspective. Older children and adolescents with BD may present with limb weakness, hearing loss, optic atrophy (OA), and scotomas.[2] Acute incidents precipitated by stress (infection) interspersed by periods of apparent normality is a feature of partial BD.

Chinta et al.[3] evaluated the etiology of optic atrophy (OA) in 324 children (583 eyes) <16 years of age. In 98 children etiology of optic atrophy was not known. Twenty-three children (OA of unknown etiology) either had history of delayed milestones or seizures. Neuroimaging was normal in this subset of children. Our assumption is, probably late onset BD should be ruled out in older children and adolescents of this subset. Long-term treatment with antiepileptic drugs may further cause biotin deficiency.

Khadse et al.[4] evaluated clinical features of 40 children (62 eyes) diagnosed as optic neuritis (ON). Nutritional optic neuropathy was not an exclusion criteria in this study. In two cases of recurrent ON, aetiology of ON was unknown. Seven ON eyes had final visual outcome of <20/200. Probably late onset BD should be considered in older children developing recurrent pediatric ON of unknown aetiology associated with poor visual outcome. Children with borderline malnutrition/vitamin deficiency, develop frank vitamin deficiency following a bout of illness.

To conclude, BD should be considered in older children presenting with cutaneous stigmata, optic atrophy, acute loss of vision, scotomas, deafness, neurological symptoms, and seizures. High index of suspicion[5] is necessary to diagnose BD.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Kasinathan A, Suthar R, Vyas S, Saini AG, Sankhyan N, Attri S. Subacute myelopathy: Think beyond neuromyelitis optica spectrum disorder. Ann Indian Acad Neurol. doi: 10.4103/aian.AIAN-4-19.  Back to cited text no. 1
    
2.
Bhardwaj P, Kaushal RK, Chandel A. Biotinidase deficiency. A treatable cause of infantile seizure. J Pediatr Neurosci 2010;5:82-3.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
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. 3
[PUBMED]  [Full text]  
4.
Khadse R, Ravindran M, Pawar N, Maharajan P, Rengappan R. Clinical profile and neuroimaging in pediatric optic neuritis in Indian population: A case series. Indian J Ophthalmol 2017;65:242-5.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
Raha S, Udani V. Biotinidase deficiency presenting as recurrent myelopathy in a 7 year old boy and review of literature. Pediatr Neurol 2011;45:261-4.  Back to cited text no. 5
    




 

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