Visual symptoms are commonly reported by patients in the endocrine clinic. Separating the benign and reversible from sight-threatening disease relies heavily on examination. In this review, we offer a practical framework for ophthalmic assessment in endocrine disease, aimed at the non-ophthalmologist working without specialist equipment. We discuss visual acuity, intraocular pressure, colour vision, pupillary response, visual fields, eye movement assessment. We also discuss some of the specific external and fundal signs that are important not to miss, including optic disc swelling and relative afferent pupillary defect (RAPD). Emphasis throughout is on the small number of bedside tests that may identify those patients needing urgent ophthalmic and neuro-ophthalmic review.

Von Hippel-Lindau disease (VHL) is a rare autosomal dominant hereditary tumour predisposition syndrome affecting multiple organ systems, including the retina, central nervous system, kidneys, pancreas, adrenal glands, and inner ear. It is caused by pathogenic variants in the VHL gene, resulting in loss of functional pVHL, abnormal stabilization of hypoxia-inducible factor (HIF)-α subunits, and activation of downstream transcriptional programmes involved in angiogenesis, metabolism, cell survival, and tumour growth. Clinically, VHL is characterized by a spectrum of benign and malignant neoplasms that require lifelong surveillance and multidisciplinary management. Retinal hemangioblastomas are among the earliest manifestations and may provide the first clue to diagnosis of this multisystem disorder. Historically, management has relied on screening, surveillance, and local treatment according to lesion size, location, symptoms, and malignant potential. The emergence of HIF-2α-targeted therapy, particularly belzutifan, has begun to change this paradigm by offering a mechanism-based systemic treatment option for selected VHL-associated tumours. In this review, we summarize the ocular and systemic manifestations of VHL, its genetic and molecular basis, genotype-phenotype correlations, contemporary surveillance strategies, current local therapies, and the emerging role of HIF-2α inhibition in reshaping management.

Neuroendocrine neoplasms (NENs) comprise a diverse group of malignancies arising across multiple anatomical sites and displaying remarkable biological and clinical heterogeneity. While advances in sequencing have identified recurrent genetic alterations in several NEN subtypes, these tumors remain largely characterized by a relatively low mutational burden and lack of dominant oncogenic drivers. Consequently, emerging evidence suggests that the molecular basis of neuroendocrine tumorigenesis extends beyond individual mutations and involves broader processes such as chromatin remodeling, telomere maintenance, epigenetic dysregulation and cellular plasticity. This review aims to summarize the current molecular landscape of pulmonary, gastro-enteropancreatic and thymic NENs, focusing on the biological pathways and cellular programs disrupted by recurrent genetic alterations unrelated to syndromes. We discuss how multi-omic studies have refined molecular classification and revealed common principles underlying neuroendocrine tumor development. Collectively, recent literature supports a shift from mutation-centered models toward a more integrated understanding of the complex biology and evolution of NENs.

Septo-optic dysplasia (SOD) is a heterogeneous neurodevelopmental disorder classically defined by optic nerve hypoplasia, hypothalamo-pituitary dysfunction, and midline brain abnormalities, although the full triad is not consistently present. This review synthesises current evidence on the developmental, endocrine, ophthalmic, and neuroradiological dimensions of the SOD/optic nerve hypoplasia spectrum. Shared embryological origins of the optic pathways, hypothalamus, and pituitary, together with disruption of inductive signalling pathways and pathogenic variants in developmental regulators including SOX2, HESX1, SOX3, and OTX2, provide a mechanistic basis for combined ocular and pituitary phenotypes. Clinically, affected children may present with nystagmus, strabismus, visual impairment, neonatal hypoglycaemia, or evolving pituitary hormone deficiencies, and remain at risk of neurodevelopmental morbidity. Neuroradiological studies have expanded the phenotype beyond classical midline defects to include malformations of cortical development and SOD-plus presentations. Current evidence supports longitudinal endocrine surveillance, detailed ophthalmic assessment, and multidisciplinary care, including timely hormone replacement and developmental support where indicated.

Pituitary and hypothalamic tumours and disorders cause visual impairment due to proximity to structures critical for vision: intracranial optic nerves, chiasm and optic tracts. Visual dysfunction arising from compression of these structures typically has a profound impact upon quality of life. Visual fields should not be interpreted in isolation but in the context of a complete neuro-ophthalmic evaluation. Optical coherence tomography (OCT), specifically peripapillary retinal nerve fibre layer (pRNFL) and macular ganglion cell layer (mGCL), quantifies the degree of structural damage of the anterior visual pathway and optic chiasm. OCT changes may precede the onset of visual field changes in asymptomatic patients with chronic compression of the optic nerve or chiasm, and also have a prognostic role for predicting the recovery in visual function following surgery. This review focuses on an overview of the impact of pituitary and hypothalamic disorders, namely pituitary adenomas, macroprolactinomas, pituitary apoplexy, craniopharyngiomas, rathke cleft cysts, optic pathway gliomas, suprasellar meningiomas, hypophysitis and inflammatory disease on visual fields and function. The impact of interventions such as medical therapy, surgery and radiotherapy, as well as the adverse outcomes upon the visual function are also discussed. We highlight the key role of the neuro-ophthalmologist, within the multidisciplinary team, in the diagnosis and monitoring of these patients.

Wolfram syndrome (WS) is a rare, progressive monogenic neurodegenerative disorder in which childhood-onset, insulin-deficient diabetes mellitus usually precedes optic atrophy and other multisystemic manifestations such as hearing loss, diabetes insipidus, urological and neuro-psychiatric abnormalities. This review summarises the underlying genetic basis and pathophysiology of Wolfram syndrome type 1 (WS1) and Wolfram syndrome type 2 (WS2), their neuro-ophthalmologic manifestations and phenotypic spectrum, as well as the multimodal biomarkers that are being used to objectively measure disease severity. Although classically known as a recessive condition with complex, severe, multiorgan involvement, WS1 caused by dominant WFS1 variants and a more limited form of the disease are increasingly being recognized. Biomarkers based on optical coherence tomography (OCT) parameters show promise for early diagnosis and disease monitoring. Lastly, emerging therapeutic options and future directions for treatment trials are discussed.

Heritable thyroid tumors represent a clinically important subset of endocrine neoplasms, accounting for approximately 3-9% of well-differentiated thyroid cancers and 25% of medullary thyroid cancers. In patients presenting with a new thyroid malignancy, recognition of an underlying hereditary cancer predisposition syndrome has important implications for management, surveillance for associated malignancies, and testing of at-risk relatives. This review summarizes the epidemiology, clinical presentation, histopathologic features, management, and surveillance recommendations for hereditary thyroid tumors in the setting of familial non-medullary thyroid cancer, multiple endocrine neoplasia type 2, familial adenomatous polyposis, Cowden syndrome, Li-Fraumeni syndrome, DICER1 syndrome, CHEK2-related cancer predisposition, and Carney complex. In the future, continued research is needed to better understand genotype-phenotype correlations, optimize surveillance strategies, and improve risk stratification to enable more personalized care for patients and families affected by these conditions.

Von Hippel-Lindau disease, neurofibromatosis type 1, tuberous sclerosis complex, and Carney complex are inherited disorders associated with an increased risk of developing multiple tumors in both endocrine and non-endocrine organs. Although each syndrome results from different genetic alterations, all are transmitted in an autosomal dominant manner (or occur de novo) and show considerable variability in their clinical presentation. Endocrine manifestations include pheochromocytomas, paragangliomas, neuroendocrine tumors, adrenocortical lesions, and pituitary disease. Recognizing these syndromes is important, as it allows appropriate surveillance, identification of affected family members, and the use of targeted treatments when available. In this review, we discuss the genetic basis, clinical manifestations, and current management of these disorders, with particular attention to their endocrine features and recent therapeutic developments in a practical and accessible manner for endocrinologists involved in the care of these patients.

Orbital metastases (OM) are uncommon but clinically significant manifestations of systemic malignancy. Endocrine tumours represent a rare source of OM, often posing diagnostic and therapeutic challenges due to their variable presentation and indolent course. OM from endocrine tumours most commonly originate from differentiated thyroid carcinoma and neuroendocrine neoplasms. Presenting symptoms include proptosis, diplopia, pain and visual impairment, frequently mimicking inflammatory or primary orbital disorders. Imaging typically demonstrates mass-like orbital lesions, while in some cases definitive diagnosis based on histopathology may be required. Management is individualized and may include radiotherapy and/or surgical excision combined with systemic therapy in case of disseminated disease. Prognosis largely depends on the extent of systemic disease and tumour biology rather than orbital involvement alone. Although rare, OM should be considered in patients with endocrine malignancies presenting with orbital symptoms. Early recognition and multidisciplinary approach are essential to optimize visual outcomes, alleviate symptoms and guide systemic disease management.

Thyroid eye disease is an immune-mediated orbital disorder most commonly associated with Graves' disease. Inflammatory expansion of orbital tissues causes proptosis, exposure symptoms, diplopia, and, in severe cases, dysthyroid optic neuropathy, with significant physical and psychological impact. Maintaining euthyroidism and promoting smoking cessation are central in its management; requiring close coordination between Ophthalmology and Endocrinology teams. Management of thyroid eye disease is guided by disease activity, severity, and phenotype, with the greatest response to immunomodulatory therapy occurring during the active inflammatory phase. Established therapies include glucocorticoids, orbital radiotherapy, steroid sparing agents, whilst newer options such as biologics have expanded the therapeutic landscape. Surgical treatments are important in treating sight threatening disease refractory to medical therapy and in staged rehabilitation once disease inactivity and thyroid stability are achieved. This review outlines established as well as emerging therapies.

Multiple endocrine neoplasia type 2 is an autosomal dominant hereditary syndrome characterized by a predisposition to medullary thyroid carcinoma and pheochromocytoma. The discovery of the RET proto-oncogene as the molecular driver of this syndrome has revolutionized the management of this disease, enabling presymptomatic diagnosis of medullary thyroid carcinoma, which leads to prophylactic thyroidectomy, screening for pheochromocytomas, and the discovery of systemic therapies that control advanced disease. This article reviews genotype-phenotype correlations, clinical manifestations, and current therapeutic strategies, including the use of selective tyrosine kinase inhibitors. In addition, we propose an algorithm for the treatment of advanced medullary thyroid carcinoma and metastatic pheochromocytoma.

South Asians are more prone to obesity and prediabetes due to a combination of non-modifiable and modifiable risk factors. While non-modifiable factors are largely unchangeable, addressing modifiable factors particularly dietary patterns is crucial for intervention. As South Asian dietary practices differ substantially from other populations, international dietary recommendations may not always be appropriate. Therefore, this review synthesizes South Asian-specific nutrition advice. Evidence was drawn from interventional studies involving South Asians identified through a systematic search, and from country-specific guidelines, recommendations, and consensus statements from South Asian countries. In total, 10 interventional studies and 14 guidelines were included. The main recommendations included a reduction of total energy intake by approximately 15% or 500 kcal/day, carbohydrate intake ranging from 49% to 65% of total energy, fat intake of, 19-32%, protein intake of 15-19%, incorporation of pre-meal nut consumption and achieving a target weight loss of .5-7%.

Skeletal muscle mass (SMM) is a key determinant of physical performance, metabolic health, and functional capacity across the lifespan. This paper provides an evidence-based overview of the effects of exercise on SMM accrual across different age groups and associated practical applications for exercise training. Evidence suggests that hypertrophic responses may vary across the lifespan, with differences observed between children and youth, middle-aged, and older populations. In younger and middle-aged populations, the primary training objective should be directed toward increasing SMM, while in older individuals, resistance training is particularly relevant for mitigating age-related declines in muscle mass. Despite these age-related differences, resistance exercise has consistently been shown to be a highly effective stimulus for increasing skeletal muscle mass across all age groups. Furthermore, in certain populations, particularly less trained individuals, endurance training modalities may also contribute to skeletal muscle adaptations. However, endurance training alone is generally associated with less pronounced effects on SMM and may primarily be implemented to support overall health-related outcomes.