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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 101-102

Optic nerve head cupping in a preterm infant revealing congenital hypothyroidism


1 Consultant Vitreo-Retina, Dhami Eye Care Hospital, 82-B Kitchlu Nagar, Ludhiana, Punjab, India
2 Garg Hospital, Jagroan, Punjab, India
3 Consultant Cataract, Refractive and Cornea, Dhami Eye Care Hospital, Ludhiana, Punjab, India
4 Consultant Pediatric and Oculoplasty Services, Dhami Eye Care Hospital, Ludhiana, Punjab, India
5 Consultant Retina Services, Dhami Eye Care Hospital, Ludhiana, Punjab, India
6 Dhami Eye Care Hospital, Ludhiana, Punjab, India

Date of Submission25-May-2021
Date of Acceptance25-Aug-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Abhinav Dhami
Consultant Vitreo-Retina, Dhami Eye Care Hospital, 82-B Kitchlu Nagar, Ludhiana - 141 001, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1406_21

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  Abstract 


We report a case of a male preterm infant with gestational age of 35 weeks evaluated for retinopathy of prematurity. On examination, the infant showed bilateral advanced optic nerve cupping head with cup disc ratio of 0.9. With a suspicion of optic nerve hypoplasia, the infant was referred to the treating pediatrician for reevaluation and to rule out systemic disorders, cranial hemorrhage, and periventricular leukomalacia. Cranial ultrasound ruled out periventricular leukomalacia. At 39 weeks of gestational age, the infant was re-admitted with the neonatologist for respiratory distress, protuberant abdomen, and tongue fasciculation. Systemic workup revealed hypothyroidism with T3 levels of 0.76 ng/ml, T4 7.1 μg/dl, and thyroid stimulating hormone 0.5 μIU/ml. Congenital hypothyroidism has a known predisposition (43%) for developing optic nerve hypoplasia. We present a unique case of congenital hypothyroidism with optic nerve head cupping presenting as a plausible variant of optic nerve hypoplasia.

Keywords: Congenital hypothyroidism, optic disc cupping, optic nerve hypoplasia


How to cite this article:
Dhami A, Gupta G, Dhami NB, Sidhu SK, Malhi RK, Dhami GS. Optic nerve head cupping in a preterm infant revealing congenital hypothyroidism. Indian J Ophthalmol Case Rep 2022;2:101-2

How to cite this URL:
Dhami A, Gupta G, Dhami NB, Sidhu SK, Malhi RK, Dhami GS. Optic nerve head cupping in a preterm infant revealing congenital hypothyroidism. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Dec 3];2:101-2. Available from: https://www.ijoreports.in/text.asp?2022/2/1/101/334875



Optic nerve hypoplasia (ONH) is associated with pituitary hormone deficiencies and is characterized by nonprogressive dysgenesis of one or both optic nerves.[1] Central hypothyroidism (CH) is of particular importance as it results in developmental delays with a 12.5-fold increased risk for cognitive delay.[1] In an early onset of periventricular leukomalacia (PVL), ONH has a distinctive association, but optic disc cupping is reported in cases wherein the disorder presents at a later stage.[2] We present a case of optic disc cupping or a variant of ONH in a preterm infant referred for retinopathy of prematurity (ROP) screening which on systemic examination revealed CH.


  Case Report Top


We present a case of male infant born preterm at gestational age 30 weeks with a birth weight of 1370 g with an unremarkable antenatal history and with no history of medication intake by the mother. He was referred for ROP screening at a corrected gestational age of 35 weeks. The retinal examination was done using wide-field retinal imaging 3Nethra NeoCamera (Forus Health, India) after pupillary dilatation by instilling a commercially available combination of eyedrop of phenylephrine 2.5% and tropicamide 0.8% (Trophtha P Semi). The anterior segment was unremarkable. On retinal examination, the optic disc was vertically oval with a cup disc ratio of 0.9 with a thin neuroretinal rim (NRR) in both eyes [Figure 1]b and [Figure 2]a; the vascular caliber was normal with the presence of temporal avascular retina in zone 2 [Figure 1]a and [Figure 2]b. The intraocular pressure (with tonopen) was 18 mmHg in both eyes after applying the eye speculum. On suspicion of advanced optic nerve cupping or optic nerve hypoplasia, the infant was referred to the treating neonatologist for reevaluation and for ruling out systemic disorder (septo-otpic dysplasia), cranial hemorrhage, and PVL. Cranial ultrasound showed no evidence of PVL [Figure 3]. The infant was admitted with the treating pediatrician at corrected gestational age of 39 weeks for aspiration pneumonia and respiratory distress, warranting invasive ventilation. During the course of hospital stay, he was noted to have protuberant abdomen with tongue fasciculation (lower motor neuron type of lesion). As a part of his systemic workup, he was noted to have hypothyroidism with T3 levels of 0.76 ng/ml, T4 7.1 μg/dl, and TSH 0.5 μIU/ml. A clinical diagnosis of CH was established by the pediatrician and oral thyroxine (10 μg/kg/day) was started for systemic management. The retinal checkup was repeated at 40th week, wherein there was no change in the optic disc cup size (0.9) in both eyes and complete vascularization of the retinal vessels upto ora serrata was noted. There was marked improvement in systemically, post thyroxine treatment with simultaneous improvement in thyroid profile (T3:1.1 ng/ml, T4: 10.85 mcg/dl, TSH 0.5 μIU/ml) after 1 month. A final diagnosis of optic disc cupping a variant of optic nerve hypoplasia secondary to CH was established. The parents were explained regarding guarded visual prognosis with periodic need for visual and retinal assessment.
Figure 1: (a) Peripheral retinal image with peripheral avascular retina in zone 2 (white star). (b) Optic disc cupping with optic nerve head cupping 0.9 (black arrow) in the left eye with normal vascular caliber

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Figure 2: (a) Optic disc cupping with optic nerve head cupping 0.9 (orange arrow) in the left eye with normal vascular caliber. (b) Zone 2, peripheral avascular retina (blue star)

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Figure 3: USG cranium in coronal view. Showing normal sulci and gyri pattern with normal size of lateral ventricles (no evidence of PVL)

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  Discussion Top


CH is a deficiency of thyroid hormone present at birth with a 43% predisposition in children to develop optic nerve hypoplasia.[1],[2],[3] Early detection of CH is a clinical challenge as most screening protocols lack routine thyroid testing and symptoms may remain occult till the development of hypopituitarism.[3] Optic nerve cupping is considered as a variant of optic nerve hypoplasia in infants with PVL.[2] Jacobson et al.[4] attributed the plausible explanation of hypoplasia associated with PVL being, trans-synaptic degeneration resulting in contraction of the optic nerve head fibers in early-onset disorder, while optic nerve cupping is noted in late-onset disorders due to lesser plasticity of the sclera to adapt for the neuronal loss.[2]


  Conclusion Top


This case presents a unique learning in understanding CH as a possible cause of optic nerve cupping or as a variant of optic nerve hypoplasia in preterm infants. Second, it emphasizes the inclusion of thyroid profile screening of all newborn infants for early detection of CH, so as to improve the post natal growth and development.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Fink C, Vedin AM, Garcia-Filion P, Ma NS, Geffner ME, Borchert M. Newborn thyroidstimulatinghormone in children with optic nerve hypoplasia: Associations with hypothyroidism and vision. J AAPOS 2012;16:418-23.  Back to cited text no. 1
    
2.
Dutton GN. Congenital disorders of the optic nerve: Excavations and hypoplasia. Eye (Lond) 2004;18:1038-48.  Back to cited text no. 2
    
3.
Ma NS, Fink C, Geffner ME, Borchert M. Evolving central hypothyroidism in children with optic nerve hypoplasia. J Pediatr Endocrinol Metab 2010;23:53-8.  Back to cited text no. 3
    
4.
Jacobson L, Hellstrom A, Flodmark O. Large cups in normal-sized optic discs: A variant of optic nerve hypoplasia in children with periventricular leukomalacia. Arch Ophthalmol 1997; 115: 1263-9.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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