Scleral lens practitioners frequently observe that the limbal fit of contemporary scleral lens designs is suboptimal. Inadequate limbal fit can lead to adverse corneal health findings, including limbal staining, limbal microcysts, conjunctival prolapse, neovascularisation, and limbal stem cell deficiency. These complications may compromise patient comfort and long-term corneal health, potentially affecting limbal stem cells through hypoxic or mechanical stress. Consequently, they may affect the long-term suitability for scleral lens wear of the patient and require the practitioner to carefully assess the risks and benefits of continued use. Achieving optimal limbal fit in clinical practice remains challenging due to the lack of clear definitions, mismatch between scleral lens limbal zone design and underlying limbal anatomy, and lens decentration. This review summarises recent advances in understanding human limbal shape, with particular emphasis on the concept of the topographical limbus derived from anterior segment imaging techniques, including corneoscleral topography, anterior segment optical coherence tomography, and the ocular impression technique. In addition, potential strategies to improve limbal fit are discussed, including the establishment of clearer terminology for the limbus and limbal fluid reservoir thickness, incorporation of imaging-derived limbal measurements into scleral lens design, consideration of oval limbal zone designs, and optimisation of lens centration.

Cyclic oculomotor nerve palsy is a rare and typically congenital disorder. It is characterized by a unilateral third cranial nerve palsy with involuntary periodic spasms that cause one or more of the following: upper eyelid elevation, miosis, accommodation, and contraction of one or more of the extraocular muscles innervated by the third nerve. We provide an update on a previous case report of a female with this disorder and highlight how its features evolved over a 13-year follow-up period. Our patient presented in early infancy with a congenital partial right oculomotor nerve palsy without ptosis, which was later followed by cyclic spasms of the pupil. Cyclic accommodation was suspected at age five years because her visual acuity (VA) changed between the spastic and paralytic phases. At age 11 years, she developed cyclic ptosis. The periodicity of the spastic and paralytic phases varied over the years and from cycle to cycle. In addition, the spasms were usually not synchronous among the affected muscles within any single cycle. The pathogenesis remains unknown. Based on this single case report, we conclude that congenital cyclic oculomotor nerve palsy causes weakness in one or more muscles innervated by the oculomotor nerve, and this weakness may occur sequentially. The age of onset of spasms varies. The periodic spasms may affect one muscle at onset and may then involve additional muscles over subsequent years. The duration of the spasms varies across different muscles during any one cycle, across successive cycles in any one muscle, and over the years in any one muscle.

COQ8A-ataxia is the most common form of primary coenzyme Q10 (CoQ10) deficiency, a group of autosomal recessive mitochondrial disorders resulting from biallelic loss of function variants in COQ8A gene, which encodes an atypical kinase/ATPase essential for the integrity of the CoQ10 biosynthetic complex. The condition typically presents as early onset, progressive cerebellar ataxia that may be accompanied by epilepsy, intellectual disability, dystonia, and exercise intolerance. A 67-year-old woman, daughter of consanguineous parents (first cousins), presented with gait instability and exercise intolerance beginning at 10 years of age, with very slow progression over five decades. Neurological examination revealed bilateral palpebral ptosis, bilateral hypometric saccades, dysmetria, dysdiadochokinesia, and ataxic gait, without cognitive impairment. Brain MRI showed severe cerebellar atrophy. Following a negative panel for spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, and SCA17), a next-generation sequencing (NGS)-based ataxia panel identified a homozygous pathogenic variant in COQ8A: NM_020247.4:c.1358del p.(Leu453Argfs*24). Baseline SARA score was 24/40 and decreased to 8/40 after 30 months of CoQ10 supplementation, representing a sustained 16-point reduction temporally associated with treatment. We report the first molecularly confirmed case of COQ8A-ataxia in Colombia, notable for a 57-year diagnostic delay, bilateral palpebral ptosis as a noteworthy ocular manifestation, and a clinically significant clinical improvement temporally associated with CoQ10 supplementation.

Learning curves for robot-assisted sacrocolpopexy (RSC) are commonly evaluated using total operative or console time, although RSC consists of multiple technically distinct steps. We explored step-specific temporal efficiency patterns using cumulative sum (CUSUM) analysis. We retrospectively analyzed the first 29 consecutive RSC procedures performed by a single surgeon with approximately 100 prior robotic procedures and experience in robotic surgical instruction. Seven procedural steps were timed using prespecified video landmarks. CUSUM curves and Spearman correlations with bootstrap 95% confidence intervals were used to describe temporal efficiency patterns. The console-time CUSUM peak was used only for a descriptive post hoc early-versus-late illustration and was not treated as an independently validated learning transition. Median operative and console times were 183 and 139 min, respectively. Neither total operative time nor total console time showed a significant monotonic relationship with case sequence, although both mean-centered CUSUM curves reached their maximum positive deviation at case 14. Step-specific temporal patterns varied substantially. Hysterectomy, anterior and posterior mesh suturing, and peritoneal closure showed negative correlations with case sequence, whereas bladder dissection showed the opposite trend and a later CUSUM peak. Early-versus-late comparisons were descriptive and did not independently validate a transition point. RSC demonstrated heterogeneous step-specific temporal efficiency patterns that were not captured by total console time alone. Because the global time trends were flat, the phase cutpoint was data-derived, and technical quality and safety were not assessed, these findings should be considered exploratory and hypothesis-generating rather than evidence of proficiency or training effectiveness.

Chronic progressive external ophthalmoplegia (CPEO) is a rare manifestation of mitochondrial myopathy, marked by slowly progressive bilateral ptosis and ophthalmoplegia that can mimic other ocular myopathies, often leading to delayed diagnosis. We report a 63-year-old female with a 24-year history of slowly progressive bilateral ptosis, ophthalmoplegia, and proximal muscle weakness. Laboratory investigations, brain and orbital magnetic resonance imaging, and extensive genetic testing were unrevealing, and she did not respond to empirical treatment for presumed myasthenia gravis. Muscle biopsy demonstrated ragged red fibers, increased succinate dehydrogenase (SDH) activity, and cytochrome c oxidase (COX)-deficient fibers appearing intensely blue on combined SDH/COX staining, a pattern the authors term the "Blueberry Muffin Sign." Electron microscopy confirmed paracrystalline "parking lot" inclusions, supporting a diagnosis of CPEO due to mitochondrial myopathy. The "Blueberry Muffin Sign" on combined COX-SDH histochemical staining represents a potentially useful diagnostic clue for mitochondrial myopathy that may facilitate earlier recognition of CPEO, particularly when genetic testing is inconclusive; validation in larger, genetically characterized cohorts is needed to establish its diagnostic specificity and reproducibility.

Autoimmune polyglandular syndrome type 3c (APS3c), characterized by autoimmune thyroid disease with another organ-specific autoimmune disorder in the absence of adrenal insufficiency, is an uncommon presentation. Its coexistence with Graves' disease and myasthenia gravis (MG) is rare and poses additional diagnostic and therapeutic challenges, particularly when complicated by thyroid storm and pregnancy. We report the ongoing management of a 22-year-old woman with this combination of autoimmune disorders. She was admitted with thyroid storm diagnosed using the Burch-Wartofsky Point Scale and Japan Thyroid Association criteria after a 15-month history of weight loss, heat intolerance, diaphoresis, anxiety, palpitations, unilateral ptosis, and fatigable proximal upper-extremity weakness. Graves' disease and MG were diagnosed based on clinical findings, positive thyroid-stimulating immunoglobulin and acetylcholine receptor antibodies, and electrophysiological evidence of a postsynaptic neuromuscular junction disorder. In the absence of clinical or biochemical evidence of primary adrenal insufficiency, the coexistence of autoimmune thyroid disease and MG supported a diagnosis of APS3c on the Neufeld and Blizzard classification. Despite methimazole (15 mg/day) and pyridostigmine (600 mg/day) therapy, and good adherence to treatment, biochemical hyperthyroidism persisted and progressed to thyroid storm. During outpatient follow-up, an intrauterine pregnancy was confirmed. Methimazole was withheld during the first trimester while the patient remained clinically stable despite persistent biochemical hyperthyroidism, and it was resumed thereafter. At the time of writing, the pregnancy remains ongoing under multidisciplinary care involving endocrinology, neurology, internal medicine, and maternal-fetal medicine, with serial maternal monitoring, planned third-trimester antibody reassessment, targeted fetal ultrasonography, perinatal planning, and neonatal surveillance. This case highlights APS3c as an important diagnostic framework for the coexistence of Graves' disease and MG and illustrates how management must be continually reassessed in the setting of thyroid storm and pregnancy. Maternal, fetal, and neonatal outcomes remain pending.