Recurrent multiple eye muscle palsy as a first sign of sarcoidosis.

Purpose: To report a case of (neuro)sarcoidosis presenting solely with recurrent cranial nerve palsies in a 57-year-old Caucasian female.

Methods: Case report with clinical imaging.

Results: A 57-year-old female first presented with a right sixth nerve palsy, which resolved spontaneously after 6 months.

Progressive Retinopathy in a Patient with Mucopolysaccharidosis Type II undergoing Enzyme Replacement Therapy: A Case Report.

Purpose: To report the changing fundus autofluorescence (FAF) and ocular coherence tomographic (OCT) findings through time in a patient with mucopolysaccharidosis type II being treated with idursulfase, an enzyme replacement therapy (ERT).

Methods: Case report with clinical photography.

Results: We report the case of a 27-year old male patient with mucopolysaccharidosis type II whom we followed from 2019-2023.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone assembly during ciliogenesis and neuronal differentiation in the retina, caused late-onset retinitis pigmentosa in 2 unrelated families. The mutant CEP162-E646R*5 protein was expressed and properly localized to the mitotic spindle, but it was missing from the basal body in primary and photoreceptor cilia.

Lose the Nintendo and thou shall be healed! Restoring vision in malingering.

Non-organic visual loss can be hard to prove or explain to the parents of affected children at times. Here, we describe a simple yet effective approach that may help solve both issues by ensuring that the patient refrains from visual stimuli.

COMBINED CENTRAL RETINAL ARTERIAL AND VENOUS OCCLUSIONS DUE TO LEUKEMIC INFILTRATION.

Purpose: To report combined central arterial and venous occlusions secondary to bilateral leukemic interfascicular optic nerve infiltration in a 56-year-old man. This was the sole presentation of a relapse in T/myeloid mixed-phenotype acute leukemia after 5 months of remission.

Methods: Case report with clinical photography.

Long-Read Sequencing to Unravel Complex Structural Variants of Leading to Cone-Rod Dystrophy and Hearing Loss.

Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) implicating has been reported in CRDHL. Here we aimed to expand the genetic architecture of typical CRDHL by the identification of complex SVs of the region and characterization of their underlying mechanisms.

Facial Pain: A Comprehensive Review and Proposal for a Pragmatic Diagnostic Approach.

Background: Facial pain, alone or combined with other symptoms, is a frequent complaint. Moreover, it is a symptom situated at, more than any other pain condition, a crosspoint where several disciplines meet, for example, dentists; manual therapists; ophthalmologists; psychologists; and ear-nose-throat, pain, and internal medicine physicians besides neurologists and neurosurgeons. Recently, a new version of the most widely used classification system among neurologists for headache and facial pain, the International Classification of Headache Disorders, has been published.

MITOGEN-ACTIVATED PROTEIN INHIBITORS: FULL-FIELD ELECTRORETINOGRAM DEMONSTRATING GENERALIZED RETINAL DYSFUNCTION.

Purpose: To report a patient with generalized retinal toxicity to mitogen-activated protein inhibitors.

Methods: Retrospective case report.

Results: Full-field electroretinogram findings indicate a generalized toxicity to the use of the mitogen-activated protein inhibitor trametinib.

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.

Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown.

Retinal nerve fiber layer thickening in ARSACS carriers.

Purpose: Two Caucasian Belgian families were diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The ophthalmological findings in both ARSACS disease and carriers are described.

Methods: In addition to a complete ophthalmological assessment, in both patients and carriers, spectral-domain Optical Coherence Tomography scans of the peri-papillary retinal nerve fiber layer were performed.