Subperiosteal orbital hemorrhage is a rare condition that is typically observed following direct facial or orbital trauma. Non-traumatic subperiosteal orbital hemorrhage (NTSOH) has been infrequently reported in association with sudden elevations in cranial venous pressure or venous congestion. To the best of our knowledge, this is the first reported case of NTSOH associated with cardiopulmonary resuscitation (CPR). A 48-year-old woman with end-stage renal disease developed cardiac arrest while undergoing hemodialysis. CPR was performed for 24 minutes, resulting in the successful return of spontaneous circulation. Contrast-enhanced computed tomography of the brain incidentally revealed a 2.6 × 2.4 × 1.2 cm mixed-density subperiosteal lesion along the roof of the right orbit with a smooth lateral margin, causing inferior displacement of the superior rectus muscle, consistent with an acute subperiosteal hematoma. The patient's coagulation profile and full blood count were within normal limits. Ophthalmic examination demonstrated mild right-sided proptosis and upper eyelid swelling. There was no relative afferent pupillary defect, and the intraocular pressure was within the normal range. A provisional diagnosis of NTSOH was made. Conservative management was pursued, as there were no clinical signs of orbital compartment syndrome. However, the patient died 24 hours later following a recurrent cardiac arrest secondary to myocardial infarction. In conclusion, NTSOH may occur following CPR, possibly associated with transient increases in intrathoracic pressures generated during chest compressions. It should be suspected in patients who develop new proptosis or periorbital swelling following CPR, prompting urgent ophthalmic assessment to identify sight-threatening complications and guide timely clinical management.

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.

Purpose: Oculopalpebral synkinesis is an involuntary change in eyelid position linked to eye movement, distinct from the jaw-triggered eyelid movement of the Marcus Gunn jaw-winking phenomenon (MGJWP). It is increasingly considered part of the spectrum of congenital cranial dysinnervation disorders (CCDDs), yet only isolated case reports have described it.Methods: We examined three patients with congenital ptosis whose eyelid position varied with gaze. Eye movements were documented with clinical photographs.Results: Case 1, an 8-year-old boy, had right congenital ptosis with a classic MGJWP and a monocular elevation deficit. The right ptosis worsened on levoversion, and the left upper eyelid, which had no baseline ptosis, moved intermittently up and down on adduction: a double synkinesis. Case 2, a 25-year-old woman, had severe bilateral ptosis and jerk nystagmus since birth, without MGJWP; ptosis worsened in the adducting eye and improved in the abducting eye. Case 3, a 9-year-old girl, had severe right ptosis, right exotropia of 10°, bilateral torsional nystagmus and mild bilateral limitation of elevation, with alternating blepharoptosis in a reciprocal pattern between the two eyelids. MRI of the brain was normal where reported.Conclusion: The same eyelid phenomenon can arise from different aberrant connections between the horizontal rectus muscles and the levator palpebrae superioris, with or without a trigeminal component. We propose that these cases form a distinct group of CCDDs in which synkinesis occurs without significant limitation of ocular motility. Functional MRI and genetic studies are needed to clarify the cause.

CHD2-related neurodevelopmental disorders are increasingly recognized as a distinct group of epileptic encephalopathies with heterogeneous clinical manifestations. Here, we report a 12-year-old female patient with pharmacoresistant epilepsy, mild cognitive impairment (IQ = 56), and extraneurological features including grade II kyphoscoliosis and planovalgus foot deformity. Video-EEG monitoring revealed a phenotype consistent with Jeavons syndrome, characterized by daily eyelid myoclonia with absences and marked photosensitivity with an eye closure sensitivity (ECS) phenomenon. Molecular genetic testing via whole-exome and Sanger sequencing identified two novel variants in the CHD2 gene (NM_001271.4): c.1634T>G (p.Leu545Arg) and c.3810G>C (p.Leu1270Phe). Long-read nanopore sequencing confirmed their de novo status and cis-positioning on the paternal allele. Structural bioinformatic analysis using AlphaFold3, FoldX/mCSM (v5.0 package), UCSF ChimeraX (v1.10.1), and PyMOL (v3.1.8) demonstrated that both variants individually destabilize the CHD2 protein, with a cumulative destabilizing effect when combined: p.Leu545Arg affects the ATP-binding domain, whereas p.Leu1270Phe disrupts hydrophobic packing within the C-terminal DNA-binding domain. These findings suggest accelerated protein degradation as a potential disease mechanism. Our data support the pathogenicity of these heterozygous cis-variants and implicate CHD2 haploinsufficiency as the leading etiopathogenic mechanism, though distinct domain-specific effects of each substitution may also contribute to the complex molecular synergy observed in this case.

Onchocerca lupi is a zoonotic nematode primarily affecting dogs, rarely causing human ocular infections. This report presents a rare case of human ocular O. lupi infection from Türkiye with a distinct clinical feature. A 19-year-old woman presented with a 2-week history of redness in her right eye. Examination revealed a subconjunctival nodule in the superotemporal quadrant. Orbital MRI showed a heterogeneous hypointense lesion in the right upper eyelid. Following an excisional biopsy and topical treatment, symptoms partially regressed, and the patient was monitored. One year later, she returned with recurrent hyperemia and mucopurulent discharge. During a conjunctival swab collection, a subconjunctival nematode was observed and extracted. Microscopic analysis confirmed adult O. lupi morphology, showing a multilayered cuticle with undulating annular ridges. This case contributes valuable insights into the literature regarding recurrent nodular presentation and delayed spontaneous extrusion.

A 9-year-old female spayed mixed breed dog was initially examined for severe bilateral entropion secondary to enophthalmos from chronic oral steroid use for immune-mediated thrombocytopenia as well as potential historic masticatory muscle myositis. Surgical intervention with entropion surgery was pursued; however, trichiasis secondary to laxity of the periocular muscles, eyelid tissues, and tarsal plate developed several months later. Hyaluronic acid (HA) filler (Alayna SG 24 Distinct, BSC Medical Devices GmbH, Munich, Germany) was injected into the superior and inferior eyelids of both eyes to correct recurrent ocular irritation. One month later, the patient developed severe, presumed pyogranulomatous blepharitis in both eyes suspected to be a delayed hypersensitivity reaction to the HA filler. The condition worsened despite medical management. Due to the patient's previous, chronic history of oral steroid use, the owners declined administration of oral steroids at that time. Oral Zenrelia (ilunocitinib) and topical neomycin-polymyxin-dexamethasone ointment were instituted, which resulted in a rapid resolution of the patient's clinical signs. This is the first known report of a dog experiencing a severe hypersensitivity reaction to hyaluronic acid used as an eyelid filler and successful treatment with Zenrelia for this purpose.