Abstract
Objectives
This cross sectional study aimed to evaluate the optic disc morphology with respect to the optic disc size, tilt and torsion in eyes of children with congenital glaucoma.
Methods
Children with congenital glaucoma (controlled with therapy), including primary congenital glaucoma (PCG) and those with Axenfeld-Rieger Malformation (ARM) who were now cooperative for fundus photography and scanning laser ophthalmoscopy, were recruited. Controls were age and gender matched children, who were following up at our institute for refractive error or had undergone strabismus surgery before the age of 3 years and were now old enough to cooperate for a fundus photography. Fundus photographs were evaluated using Image J processing software to obtain optic disc tilt and torsion. Axial length (AL) and optic disc area (DA) were correlated with the disc tilt and torsion. The axial length, optic disc area, optic disc tilt, optic disc torsion were compared between affected eyes with PCG with those of healthy controls and the unaffected eyes of unilateral PCG as well as between PCG and those with ARM.
Results
Affected eyes of children with PCG (n = 109) had a DA (2.3 ± 0.7 mm2 vs. 2.1 ± 0.5 mm2), disc tilt (1.1 ± 0.1 vs. 1.1 ± 0.2) and disc torsion (median 10 vs. 6 degree) not significantly different (p = 0.8, p = 1, p = 0.61 respectively) from eyes of healthy children (n = 96). Mean AL in PCG eyes was significantly greater (p < 0.028) than in healthy control eyes and correlated with the DA in PCG eyes (Pearson correlation=0.32, p = 0.014). Affected eyes of children with unilateral congenital glaucoma (n = 33) had a DA (2.3 ± 0.54 mm2 vs. 2.1 ± 0.54 mm2), disc tilt (1.1 ± 0.09 vs. 1.1 ± 0.1) and disc torsion (median 10 vs. 10 degree) not significantly different (p = 0.64, p = 0.1, p = 0.75 respectively) from the unaffected eyes. However, eyes of patients with ARM had higher disc torsion compared to controls (p = 0.043).
Conclusion
Despite axial elongation, the optic disc morphology of children with primary congenital glaucoma are not significantly different from healthy controls.
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Data availability
Data for this work are not available publicly to protect patient privacy, however is available with the Corresponding author and can be obtained on request.
References
Papadopoulos M, Cable N, Rahi J, Khaw PT. The British Infantile and Childhood Glaucoma (BIG) Eye Study. Invest Ophthalmol Vis Sci. 2007;48:4100–6.
Dandona L, Williams JD, Williams BC, Rao GN. Population-based assessment of childhood blindness in southern India. Arch Ophthalmol. 1998;116:545–6.
Mandal AK, Chakrabarti D. Update on congenital glaucoma. Ind J Ophthalmol. 2011;59:S148–157.
Park HY, Kim SE, Park CK. Optic Disc Change during Childhood Myopic Shift: Comparison between Eyes with an Enlarged Cup-To-Disc Ratio and Childhood Glaucoma Compared to Normal Myopic Eyes. PLoS ONE. 2015;10:e0131781.
Gupta V, James MK, Singh A, Kumar S, Gupta S, Sharma A, et al. Differences in Optic Disc Characteristics of Primary Congenital Glaucoma, Juvenile, and Adult Onset Open Angle Glaucoma Patients. J Glaucoma. 2016;25:239–43.
Kim TW, Kim M, Weinreb RN, Woo SJ, Park KH, Hwang JM, et al. Optic disc change with incipient myopia of childhood. Ophthalmology. 2012;119:21–6.e21-23.
Shaffer RN, Hetherington J Jr. The glaucomatous disc in infants. A suggested hypothesis for disc cupping. Trans Am Acad Ophthalmol Otolaryngol. 1969;73:923–35.
Thau A, Lloyd M, Freedman S, Beck A, Grajewski A, Levin AV. New classification system for pediatric glaucoma: implications for clinical care and a research registry. Curr Opin Ophthalmol. 2018;29:385–94.
You QS, Xu L, Jonas JB. Tilted optic discs: The Beijing Eye Study. Eye. 2008;22:728–9.
How AC, Tan GS, Chan YH, Wong TT, Seah SK, Foster PJ, et al. Population prevalence of tilted and torted optic discs among an adult Chinese population in Singapore: the Tanjong Pagar Study. Arch Ophthalmol. 2009;127:894–9.
Vongphanit J, Mitchell P, Wang JJ. Population prevalence of tilted optic disks and the relationship of this sign to refractive error. Am J Ophthalmol. 2002;133:679–85.
Tay E, Seah SK, Chan SP, Lim AT, Chew SJ, Foster PJ, et al. Optic disk ovality as an index of tilt and its relationship to myopia and perimetry. Am J Ophthalmol. 2005;139:247–52.
Chihara E, Chihara K. Covariation of optic disc measurements and ocular parameters in the healthy eye. Graefes Arch Clin Exp Ophthalmol. 1994;232:265–71.
Lim L, Gazzard G, Chan YH, Fong A, Kotecha A, Sim EL, et al. Corneal biomechanics, thickness and optic disc morphology in children with optic disc tilt. Br J Ophthalmol. 2008;92:1461–6.
Ehongo A, Dugauquier A, Kisma N, De Maertelaer V, Nana Wandji B, Tchatchou Tomy W, et al. Myopic (Peri)papillary changes and visual field defects. Clin Ophthalmol. 2023;17:3295–306.
Marsh-Tootle WL, Harb E, Hou W, Zhang Q, Anderson HA, Weise K, et al. Optic nerve tilt, crescent, ovality, and torsion in a multi-ethnic cohort of young adults with and without myopia. Invest Ophthalmol Vis Sci. 2017;58:3158–71.
Jonas JB, Bikbov MM, Wang YX, Jonas RA, Panda-Jonas S. Anatomic peculiarities associated with axial elongation of the myopic eye. J Clin Med. 2023;12:1317.
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM, et al. Rare diseases leading to childhood glaucoma: epidemiology, pathophysiogenesis, and management. Biomed Res Int. 2015;2015:781294.
Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY, et al. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014;121:2081–90.
Bassi ST, George R, Sen S, Asokan R, Lingam V. Prevalence of the optic disc anomalies in the adult South Indian population. Br J Ophthalmol. 2019;103:94–98.
Tong L, Chan YH, Gazzard G, Loon SC, Fong A, Selvaraj P, et al. Heidelberg retinal tomography of optic disc and nerve fiber layer in singapore children: variations with disc tilt and refractive error. Invest Ophthalmol Vis Sci. 2007;48:4939–44.
Pilat AV, Shah S, Sheth V, Purohit R, Proudlock FA, Abbott J, et al. Detection and characterisation of optic nerve and retinal changes in primary congenital glaucoma using hand-held optical coherence tomography. BMJ Open Ophthalmol. 2019;4:e000194.
Arisanti D, Ulhaq ZS, Kurniawan F, Shodry S, Putri RBR, Herawangsa S, et al. Evaluation of optic nerve head and retinal layers in affected and fellow eyes of pediatric glaucoma. Global Pediatr. 2023;4:100048.
Samarawickrama C, Mitchell P, Tong L, Gazzard G, Lim L, Wong TY, et al. Myopia-related optic disc and retinal changes in adolescent children from Singapore. Ophthalmology. 2011;118:2050–7.
Ha A, Baek SU, Kim JS, Jeoung JW, Park KH, Kim YK, et al. Association of progressive optic disc tilt with development of retinal nerve fibre layer defect in children with large cup-to-disc ratio. Br J Ophthalmol. 2023;107:869–75.
Gupta S, Dubey S, Gupta V. Optic disc shape change with glaucomatous progression. Ophthalmology. 2017;124:73.
Evans AL, Gage PJ. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet. 2005;14:3347–59.
French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, et al. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014;124:4877–81.
Jacobson A, Bohnsack BL. Posterior segment findings in Axenfeld-Rieger syndrome. J AAPOS. 2022;26:320–2.
Tsai CS, Ritch R, Shin DH, Wan JY, Chi T. Age-related decline of disc rim area in visually normal subjects. Ophthalmology. 1992;99:29–35.
Daniel E, Addis V, Maguire MG, McGeehan B, Chen M, Salowe RJ, et al. Prevalence and Factors Associated with Optic Disc Tilt in the Primary Open-Angle African American Glaucoma Genetics Study. Ophthalmol Glaucoma. 2022;5:544–53.
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VG, SP, SG, NS had substantial contribution to the conception and design of the study. AP, VG, AK and SP had substantial contribution to the acquisition and collection of data. AP, PS and VG contributed to the analysis and interpretation of data. AP, SG, and VG contributed to the drafting of the manuscript.
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Panigrahi, A., Sawant, N., Malik, M.A. et al. Optic disc morphology in congenital glaucoma. Eye 39, 2211–2216 (2025). https://doi.org/10.1038/s41433-025-03839-6
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DOI: https://doi.org/10.1038/s41433-025-03839-6


