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 Table of Contents  
Year : 2022  |  Volume : 60  |  Issue : 2  |  Page : 158-161

Optic atrophy in paediatric patients: A clinical review

1 Department of Neuro Ophthalmology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
2 Department of Neuro-Ophthalmology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
3 Department of Paediatric-Ophthalmology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
4 Department of Paediatric Ophthalmology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India

Date of Submission26-Nov-2021
Date of Acceptance06-May-2022
Date of Web Publication30-Jun-2022

Correspondence Address:
Akkayasamy Kowsalya
Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai - 625 020, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjosr.tjosr_181_21

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Aim: The purpose of this study was to analyse paediatric optic atrophy in terms of aetiology and clinical presentation. Methodology: A retrospective review of records of children between 0 and 15 years diagnosed with optic nerve atrophy from January 2018 to December 2018 at a tertiary eye care centre was done. Results: Out of 40 children (80 eyes), 47.5% presented with defective vision, 12.5% with defective vision and strabismus. Mean age at presentation was 8.3 years. Mean visual acuity at presentation was 6/60. Hypoxic ischemic encephalopathy was noted in 30%, which was the most frequent cause followed by idiopathic in 15%, compressive aetiology in 10%, congenital in 10%, inflammatory in 10%, hydrocephalus in 7.5%, infection in 5%, traumatic in 5% and miscellaneous in 7.5%. Conclusion: Our study throws light on the prevalent causes of paediatric optic atrophy in Indian population which can aid in timely intervention and appropriate rehabilitation to improve the functional potential of these children.

Keywords: Aetiology, clinical presentation, hypoxic ischemic encephalopathy, optic atrophy

How to cite this article:
S. Jasti DN, Kowsalya A, Bhaskaran S, Jayasri K, Thanemozhi S, Kumar M. Optic atrophy in paediatric patients: A clinical review. TNOA J Ophthalmic Sci Res 2022;60:158-61

How to cite this URL:
S. Jasti DN, Kowsalya A, Bhaskaran S, Jayasri K, Thanemozhi S, Kumar M. Optic atrophy in paediatric patients: A clinical review. TNOA J Ophthalmic Sci Res [serial online] 2022 [cited 2022 Aug 10];60:158-61. Available from: https://www.tnoajosr.com/text.asp?2022/60/2/158/349516

  Introduction Top

Optic atrophy is the common morphological endpoint of any disease process that causes axon degeneration in the retrogeniculate pathway. There are many causes of childhood blindness, but optic atrophy has its own significance in pointing towards a life-threatening disease, which not only decreases the vision but also impairs the overall development of the child.[1] Optic atrophy can be caused by tumours near or of the visual pathways, inadequate blood or oxygen supply to the brain (hypoxia ischemic encephalopathy) before or shortly after birth, infections, hydrocephalus, trauma, hereditary, inflammation or rare degenerative diseases [Figure 1]. There has been an emerging trend in the etiological profile of optic atrophy. Studies conducted in the 1970's showed intracranial space-occupying lesions as the most common ones, whereas in the 1980's, prematurity and hydrocephalus were found to be leading causes in the Indian population.[2],[3] This was due to advanced investigations and improved medical facilities contributing to increased survival of premature babies with perinatal brain injuries.
Figure 1: Fundus image – diffuse gross disc palor (primary optic atrophy)

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The present study was to evaluate the current aetiology and clinical profile of paediatric optic atrophy cases at a tertiary eye care centre.

  Materials and Methods Top

This was a retrospective study of children under 15 years of age diagnosed with unilateral/bilateral optic atrophy, who presented to our institute in the span of one year (from January 2018 to December 2018) Ethical committee dated on 17th December 2017. We reviewed the case sheets of all of the patients. Clinical data including age, gender, presenting complaints, systemic conditions, relevant antenatal history, natal history, postnatal history, family history of ocular or systemic disorder, any prior investigations and treatment were noted. Ocular examination including anterior segment evaluation, pupillary response, and fundus biomicroscopy were done. Trained neuro-ophthalmologists and paediatric ophthalmologists made the diagnosis of optic atrophy based on fundus examination. Investigations such as neuroimaging (CT or MRI), visually evoked potential testing, electroretinogram, and blood investigations were done to aid in establishing the diagnosis.

The causes of optic atrophy were categorized as hypoxic ischemic encephalopathy, idiopathic, hydrocephalus, compressive, infective, traumatic, congenital, inflammatory, miscellaneous.

  Results Top

A total of 40 children (80 eyes) were identified with diagnosis of unilateral or bilateral optic atrophy. There were 13 girls (32.5%) and 27 boys (67.5%) included in this series. Mean age at presentation was 8.3 years (range: 0–15 years). Out of 40 children, 19 (47.5%) presented with defective vision, 3 (7.5%) with strabismus, 5 (12.5%) with defective vision and strabismus, one child with nystagmus, defective vision and strabismus, one child with headache and 11 (27.5%) were referred from outside [Table 1]. Of the 11, five children were referred by a paediatrician at mean age of six months, three were referred from camp, and three by neurologist.
Table 1: Presenting complaints

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32 patients (80%) had bilateral and 8 (20%) had unilateral optic atrophy. Of the 72 affected eyes, visual acuity at presentation was in the range of 6/6–6/18 in 10 eyes (13.89%), 6/18–6/60 in 8 (11.1%), 6/60–FCF in 23 eyes (31.9%), FCF to light perception in 12 (16.67%), no light perception in 4 (5.5%), fixing and following in 7 (9.72%), and not fixing and following in 8 (11.1%) [Table 2].
Table 2: Visual acuity at presentation in affected eyes

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Aetiology was determined based on history, clinical presentation and investigation in 34 cases (85%) and remaining 6 cases (15%) were classified under idiopathic category [Table 3]. Hypoxic ischemic encephalopathy seen in 12 children (30%) was the most common cause, all of whom had radiologically proven diagnosis. Of these 12 children, 10 (25%) had history of delayed cry, seizures and delayed milestones, and 3 (7.5%) were preterm babies. One among the preterm babies had history of intrauterine death of the second twin, and similar was the case with one more child who is categorized under hydrocephalus. There were 6 patients (15%) without any identifiable cause, and so were classified under idiopathic. Neuroimaging was done for all of the patients.
Table 3: Etiology of paediatric optic atrophy

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Craniopharyngioma was found in 2 (5%) of the 4 (10%) under compressive aetiology. They presented to us after undergoing neurosurgery. Congenital category consists of children having ocular, cranial or craniofacial abnormalities, and 4 (10%) were in this category [Table 3]. There were 4 patients (10%) with optic neuritis, and are included in inflammation category. One patient was found to be suffering from multiple sclerosis. Hydrocephalus was found in 3 (7.5%) and were operated previously with shunt procedure. One child had history of recent defective vision even after surgery and was found to have recurrence of hydrocephalus on neuroimaging after presenting to our institute. Three children (7.5%) were included in miscellaneous category [Table 3]. Two were included in traumatic aetiology. Infective cause (TORCH) was seen in two (5%).

  Discussion Top

Optic atrophy is a red flag sign to an ophthalmologist, as it aids in timely diagnosis and management of a serious systemic conditions, further reducing the morbidity and mortality of a child. Based on the results, children with ocular misalignment or motor disorders present earlier than defective vision alone. This is due to the fact that the child cannot describe the defective vision at an early age, but ocular misalignment can be noticed by parents.

A recent study by Chinta et al. found hypoxic ischemic encephalopathy to be the most frequent cause (41%) from 2006 to 2011 in the Indian population.[1] In contrast, an earlier study during the period of 1978 to 1987 done by Repka and Milker found that perinatal insults were seen in only 9% of patients.[2] This shows the changing trend in the pattern of paediatric optic atrophy which can be attributed to increased survival of high-risk infants in the recent past due to improved medical facilities.

Hypoxic ischemic encephalopathy (HIE) was found to be the most common cause, of which 83% had a history of seizures and developmental delay. Exact cause of HIE cannot be determined due to lack of old records with the patients. Many factors like infertility, elderly mothers, social customs of delayed feeding, low socioeconomic status, and assisted deliveries lead to preterm births and perinatal insults. Improved NICU care increases the survival chance of these infants, who ultimately have to live with the comorbidities of the perinatal insult.[4] Patients with neurological sequelae of HIE like spastic cerebral palsy present at an early age (mean age of presentation is 1 year) due to associated systemic diseases.

Repka et al.[2] couldn't arrive at a diagnosis in only 11% of their cases. In our study of six cases (15%), proper cause couldn't be identified. This was due to financial constraints for ordering extensive investigations and problems in follow up of patients from remote areas. A majority of patients in our clinical practice are from low socioeconomic background.

Craniopharyngioma was found in two children (5%) among four of compressive aetiology. A multi-institutional study from India by Jain et al.[5] reported a high frequency of craniopharyngioma (10%) when compared to western literature, which was only 5%. Adamantinomatous type of craniopharyngioma has bimodal distribution in children aged 5–15 years and adults aged 40–55 years.They have aggressive clinical course with significant mortality and morbidity, so early diagnosis plays a key role.

We found out an interesting fact: Two of the three children in our study who were born out of twin pregnancy had reports suggestive of congenital hydrocephalus with dilated ventricles. Mackie et al. in 2015 found that twin pregnancies with single foetal demise are complex pregnancies with increased risk of acquired brain pathology.[6] A multicentre study by Conte G et al.[7] in 2018 concluded that brain injury of the surviving co-twin in monochorionic pregnancies is usually of ischemic origin and spares brain stem and cerebellum.

In miscellaneous [Table 3], one case of osteopetrosis presented with optic atrophy. There were two case reports, one was published by Kumar N et al.[8] in 2013. Osteopetrosis was caused by reduced activity of osteoclasts which results in defective remodelling of bone and increased bone density. Osteopetrosis can cause optic nerve compression in the bony optic canal and lead to optic atrophy. This is to highlight the possibility of rare cause while evaluating a case of optic atrophy.

There was no hereditary optic neuropathy group in our study as genetic workup is not feasible for many patients. There are limitations; as the patients were reviewed at a tertiary centre, it may not represent the true incidence in the general population. The incidence of optic atrophy due to hereditary and neurodegenerative diseases can be underestimated as the patients reviewed were under 15 years, whereas optic atrophy can develop late in those conditions.

All patients of optic atrophy should be followed up carefully. One child presented with recent decrease in vision even after shunt surgery, explaining the possibility of recurrence. The ophthalmologist plays an important role in detecting recurrence of tumours during follow-up period. A careful history regarding perinatal period and neuroimaging provides a hint towards possible diagnosis of HIE, which was the most common cause in this series. Those children need utmost care and rehabilitation as they also suffer from systemic conditions.

  What this Study Adds Top

Our study throws light on prevalent causes of paediatric optic atrophy in Indian population which can aid in timely intervention and appropriate rehabilitation to improve the functional potential of these children.

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Conflicts of interest

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]  [Full text]  
Repka MX, Miller NR. Optic atrophy in children. Am J Ophthalmol 1988;106:191-3.  Back to cited text no. 2
Mudgil AV, Repka MX. Childhood optic atrophy. Clin Exp Ophthalmol 2000;28:34-7.  Back to cited text no. 3
Jacobson LK, Dutton GN. Periventricular leukomalacia: An important cause of visual and ocular motility dysfunction in children. Surv Ophthalmol 2000;45:1-13.  Back to cited text no. 4
Jain A, Sharma MC, Suri V, Kale SS, Mahapatra AK, Tatke M, et al. Spectrum of pediatric brain tumors in India: A multi-institutional study. Neurol India 2011;59:208-11.  Back to cited text no. 5
[PUBMED]  [Full text]  
Mackie FL, Morris RK, Kilby MD. Fetal brain injury in survivors of twin pregnancies complicated by demise of one twin: A review. Twin Res Hum Genet 2016;19:262-7.  Back to cited text no. 6
Conte G, Righini A, Griffiths PD, Rustico M, Lanna M, Mackie FL, et al. Brain-injured survivors of monochorionic twin pregnancies complicated by single intrauterine death: MR findings in a multicenter study. Radiology 2018;288:582-90.  Back to cited text no. 7
Kumar N, Singh A, Saxena R, Menon V, Sharma S. An unusual cause of optic atrophy in a child. Indian J Ophthalmol 2014;62:494-5.  Back to cited text no. 8
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  [Table 1], [Table 2], [Table 3]


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