Ocular Manifestations of Endocrine Disorders in Children and Adolescents: A Critical Narrative Review with Quantitative Appraisal and Comparison with Adult Disease
Ahmed Kassem
Department of Ophthalmology, Sanford Fargo Children's Hospital and Sanford Medical Centre Fargo. ND, USA.
Ashraf Soliman
*
Department of Paediatrics, Division of Endocrinology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
*Author to whom correspondence should be addressed.
Abstract
Background and Significance: The eye is a target organ for almost every hormonal axis, and endocrine disease in childhood therefore carries ophthalmic consequences that are not simply earlier versions of adult disease. Ocular tissue in the growing child is still undergoing axial elongation, photoreceptor maturation, myelination of the anterior visual pathway and synaptic refinement, so identical endocrine insults produce different phenotypes, different reversibility and different functional costs before and after skeletal maturity.
Purpose and Scope: This critical narrative review evaluates the strength, consistency and methodological quality of evidence on ocular manifestations of endocrine disorders in people aged under 20 years, and compares that evidence directly with the corresponding adult literature. Coverage spans diabetes mellitus, thyroid disease, hypothalamic-pituitary disorders, disorders of calcium and glucocorticoid regulation, gonadal and sex-chromosome conditions, and monogenic endocrine-ocular syndromes.
Approach: Indexed scholarly sources were searched for literature published between January 2000 and 19 June 2026, supplemented by citation searching. Selection prioritised population-based cohorts, quantitative syntheses, multicentre series and consensus guidance. Quantitative appraisal was confined to critical comparison of published pooled estimates, because ascertainment heterogeneity precludes defensible de novo pooling.
Principal Findings: Published pooled estimates of retinopathy prevalence in paediatric diabetes diverge substantially and in opposing directions, and the dominant explanatory variable is the retinal imaging method rather than the underlying biology; the same body of studies yields a near-thirty-fold difference in measured prevalence between direct fundoscopy and stereoscopic fundus photography. Orbitopathy in paediatric Graves disease is consistently milder and less often sight-threatening than in adults, yet the paediatric evidence base consists almost entirely of single-centre series and contains no randomised treatment data. Compressive and developmental optic neuropathies associated with sellar tumours and midline malformations account for a disproportionate share of irreversible childhood visual loss and correlate with the severity of accompanying pituitary hormone deficiency.
Unresolved Questions and Implications: Screening thresholds derived from adult microvascular models remain unvalidated for prepubertal exposure, retinal neurodegeneration has not been shown to predict clinically meaningful outcomes, and no paediatric-specific outcome instrument exists. Harmonised ascertainment and prospective paediatric cohorts with functional endpoints are required before current practice can be considered soundly grounded.
Keywords: Paediatric endocrinology, diabetic retinopathy, Graves orbitopathy, optic nerve hypoplasia, craniopharyngioma, idiopathic intracranial hypertension, ciliopathy, visual screening