Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.

We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel ALMS1 variant.

Advancement of the muscle insertion toward the limbus as an alternative or adjunct to resection.

PURPOSE: To describe the surgical outcomes of patients that underwent strabismus surgery involving advancement of the muscular insertion line toward the limbus. METHODS: The medical records of patients who underwent rectus muscle advancement surgery between January 2009 and June 2019 and had at least 1 year of follow-up were reviewed retrospectively. Patients were classified into one of four types of deviation: (1) convergence insufficiency, without distance deviation; (2) small-angle distance esotropia, with diplopia; (3) residual strabismus after previous surgery; and (4) large-angle exotropia. The first group underwent 2 mm advancement of the medial rectus insertion bilaterally; the second, 2-3 mm advancement of the lateral rectus muscle bilaterally; the third, 2-3 mm advancement of the lateral or medial rectus muscle, with or without simultaneous resection; and the fourth, 3 mm advancement of the medial rectus with simultaneous resection, with or after maximum recession of the lateral rectus, bilaterally or unilaterally. RESULTS: A total of 25 patients were included (mean age, 28.76 ± 22.75 years): 4 with convergence insufficiency, 3 with small-angle distance esotropia and diplopia, 16 with residual strabismus, and 2 with large-angle exotropia. Mean postoperative follow-up was 4.76 ± 2.03 years. Surgery was successful in all patients at 1 year (residual deviation ≤10Δ), and all but 1 at 5 years; 1 patient required reoperation. CONCLUSIONS: Advancement of the muscle insertion proved successful as an alternative or adjunctive procedure to other forms of muscle tightening in the subtypes of patients evaluated in this study.

Correlation Between Ophthalmologic and Neuroradiologic Findings in Type 1 Neurofibromatosis.

BACKGROUND: Neurofibromatosis Type 1 (NF-1) is a genetic disease affecting the eye, and ocular findings such as Lisch nodules (LN) or optic pathway gliomas (OPGs) are a part of its diagnostic criteria. Recent imaging technologies such as infrared (IR) imaging and optical coherence tomography (OCT) have highlighted the visualization of choroidal focal abnormalities in these patients, even in the absence of other ocular lesions. This study aimed to establish a morphological multimodal evaluation of choroidal findings in patients with NF-1, correlating them with central nervous system (CNS) findings. METHODS: This retrospective study included 44 eyes from 22 patients with NF-1. Central 30° IR imaging was obtained, and the number and total area of detectable lesions were calculated. Both macular and optic disc scanning with OCT were performed, with and without the enhanced depth imaging technique, to assess the presence of choroidal focal hyperreflective lesions. Central macular thickness, ganglion cell layer, and outer nuclear layer thickness were assessed, as well as subfoveal choroidal thickness. The peripapillary retinal nerve fiber layer (RNFL) thickness was also assessed. Patients' magnetic resonance images (MRI) were reviewed and categorized by a neuroradiology specialist, determining the presence of OPGs and CNS hamartomas. Correlations between the ophthalmological and neuroradiological findings were established. RESULTS: Patients' mean age was 16.4 ± 7.3 years and 59.1% were women. On the MRI, 86.4% of the patients had CNS hamartomas, and 34.1% of the eyes had OPGs. LN were described in 29.5% of the eyes, whereas a total of 63.4% of the eyes presented the characteristic hyperreflective lesions in IR imaging, all of them matching the underlying choroidal lesions. A mean of 2.9 ± 3.3 lesions per eye and a median total lesion area of 1.52 mm2 were found. The presence of OPGs was correlated with a greater number (P = 0.004) and a larger area (P = 0.006) of IR lesions. For a cut-off of 3.5 lesions per eye, the sensitivity and specificity for the presence of OPGs were 75% and 80%, respectively. For a total lesion area of 2.77 mm2, the sensitivity and specificity for the presence of OPGs were 69.2% and 93.1%, respectively. Eyes with OPGs presented a significant reduction in the temporal RNFL (P = 0.018) thickness, as well as a reduction in subfoveal choroid thickness (P = 0.04). No relations were found between CNS hamartomas and ophthalmological findings. CONCLUSIONS: This study suggests that focal choroidal abnormalities are correlated with the presence of CNS lesions as OPGs in patients with NF-1, and it might be a surrogate for the need for CNS imaging in these patients.

Childhood-Onset Leber Hereditary Optic Neuropathy: Particular Features.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance. Childhood-onset disease is relatively rare and there are limited data on this important patient subgroup. CASE PRESENTATION: We present 3 particular presentations of LHON. Patient 1 was an 8-year-old boy admitted to the emergency department reporting a progressive bilateral visual loss and intermittent headaches. Neuro-ophthalmological examination revealed a bilateral pseudopapilledema. Lumbar puncture identified intracranial hypertension and the brain and orbits magnetic resonance imaging showed T2 hyperintensity in the posterior region of the left optic nerve and the optic chiasm. Patient 2 was a 12-year-old boy admitted to the emergency department reporting painless, progressive central vision loss in the right eye. Fundus examination revealed a hyperemic disc and vascular network papillary and peripapillary vascular microdilations. Three months later, the left eye presented visual loss. Patient 3 was a 6-year-old female child referred to the neuro-ophthalmology specialist due to painless central visual loss in both eyes. Her BCVA was 1/10 and counting fingers in right and left eye, respectively, and fundus examination revealed a pallor optic disc in the temporal sector. DISCUSSION: The phenotype of childhood-onset disease may present itself distinct from classical adult-onset LHON. The absence of classical clinical features could lead to initial misdiagnosis. There should exist a high index of suspicion in children presenting unexplained subnormal vision in order to avoid potential diagnostic delays.

The Relationship between Intraocular Pressure and Optic Nerve Structural and Functional Damage in Patients with Optic Nerve Head Drusen.

The aim of this retrospective study was to evaluate if, in ocular normotensive patients, at the time of diagnosis of optic nerve head drusen (ONHD), perimetric mean deviation (PMD) on visual field (VF) examination and retinal nerve fibre layer (RNFL) thickness on optical coherence tomography correlated with intraocular pressure (IOP). There was a significant association between IOP and PMD (Spearman's rho = -0.863, p < .01) and between IOP and RNFL thickness (Spearman's rho = -0.630, p < .01). A higher IOP was associated with a greater functional loss in the VF and a reduction in the RNFL thickness. These results suggest that a clinical trial of IOP reduction should be considered in patients with ONHD to decrease the progression of optic nerve damage over time.

Intrathecal rituximab in immunoglobulin G4-hypertrophic pachymeningitis.

We describe the case of a 69-year-old man who presented with symptoms of headache and severe vision loss due to G4 immunoglobulin (IgG4) hypertrophic pachymeningitis (HP). The patient was initially responsive to corticotherapy, but vision loss progressed when steroid therapy was first tapered. No improvement was noticed with intravenous rituximab. The patient showed clinical and radiological improvement after intrathecal rituximab, which can be an efficacious alternative treatment option.

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

PURPOSE: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. METHODS: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. RESULTS: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3-22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8-35). The best-corrected visual acuity ranged from counting fingers to 20/50. CONCLUSIONS: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

[Bilateral Optic Disc Edema Secondary to Amiodarone: Manifestation of an Iatrogenic Optic Neuropathy]. / Edema Bilateral do Disco Ãìptico Secundário a Amiodarona: Manifestação de uma Neuropatia Ãìptica Iatrogénica.

A 69-years-old male patient was treated with amiodarone 200mg/day over the passed two months for atrial fibrillation. He presented a sudden, painless and unilateral visual loss. Ophthalmologic evaluation revealed a bilateral optic disc edema. Neurological examination was otherwise unremarkable. After properly excluding increased intracranial pressure and giant cell arteritis, the main differential diagnosis was between nonarteritic anterior ischemic optic neuropathy and optic neuropathy secondary to amiodarone. The latter diagnosis was favored due to a presence of bilateral and simultaneous optic disc edema, gradual improvement of symptoms after discontinuation of the drug, and, mostly, by persistence of optic disc edema beyond 6 weeks. Of note, an acute presentation of this disorder is common. Amiodarone optic neuropathy is a rare but potentially serious cause of optic nerve dysfunction, and its discontinuation is usually warrant.

Um doente de 69 anos, sexo masculino, inicia de forma súbita uma hipovisão unilateral indolor. Encontrava-se medicado com amiodarona, 200 mg/dia, iniciada dois meses antes por fibrilação auricular. A avaliação oftalmológica inicial constatou um edema bilateral do disco óptico. O restante exame neurológico não apresentava alterações de relevo. Após a exclusão de uma etiologia arterítica ou relacionada com hipertensão intracraniana, estabeleceu-se um diagnóstico diferencial entre a neuropatia óptica isquémica anterior não-arterítica e uma neuropatia óptica secundária a amiodarona. Este último diagnóstico foi favorecido pela presença bilateral e simultânea de edema do disco óptico, pela melhoria progressiva do quadro após descontinuação do fármaco e, principalmente, pela persistência do edema para além das 6 semanas. Refira-se que um início agudo é comum nesta patologia. A neuropatia óptica secundária a amiodarona é uma causa rara mas potencialmente grave de disfunção do nervo óptico, sendo habitualmente necessária a sua descontinuação.

Optical coherence tomography study of peripapillary retinal nerve fiber layer and choroidal thickness in eyes with tilted optic disc.

PURPOSE: The tilted optic disc is associated with peripapillary choroidal and retinal nerve fiber layer (RNFL) changes as well as visual field defects, often leading to diagnostic difficulties due to similarities with glaucomatous discs. We studied the peripapillary RNFL of the tilted optic disc by comparing values obtained with spectral-domain (SD) and time-domain (TD) optical coherence tomography (OCT) in order to identify characteristic RNFL patterns verified by both OCT devices, and also to determine whether SD-OCT offers any diagnostic advantage over TD-OCT. METHODS: Prospective case-control study of 16 individuals with tilted optic discs (27 eyes) and an age-matched control group (10 individuals, 20 eyes). Each case was subjected to ophthalmological examination and automated perimetry. Tilt orientation was classified based on observation of optic disc photographs, and angle of disc torsion was calculated with image processing software. RNFL measurements were obtained with TD-OCT and SD-OCT. Peripapillary choroid thickness was measured with SD-OCT. The findings were related with optic disc morphology and automated perimetry results. RESULTS: Stratus OCT results showed significantly lower superior RNFL (P<0.001) on the tilted group, whereas Spectralis indicated significantly lower superotemporal (P<0.001), superonasal (P=0.001), temporal (P=0.01), and global (P=0.01) RNFL on the tilted disc group. A significant correspondence was found between elevated disc rim and location of RNFL defect on the Spectralis (P=0.004). On the tilted group, peripapillary choroidal thickness was significantly thicker adjacent to the elevated rim (P<0.001). No correspondence was found between tilt orientation, peripapillary RNFL, or choroidal thickness and location of perimetric defects. CONCLUSIONS: Our results provide a clinical characterization of the main tilted disc morphologies and are valuable for correctly differentiating a tilted disc from a myopic glaucomatous disc. RNFL assessment by Spectralis OCT seems to be more susceptible to altered disc morphologies. The peripapillary RNFL changes found on titled disc cases could not predict the location of visual field defects.

Ophthalmic manifestations in 18 patients with botulism diagnosed in Porto, Portugal between 1998 and 2003.

BACKGROUND: Botulism is a rare but potentially lethal disease in which ophthalmic signs and symptoms are among the very earliest manifestations. The aim of this study was to investigate the epidemiological and clinical features of botulism-infected patients admitted to a general hospital in Porto, Portugal. METHODS: We performed a retrospective chart review of all botulism patients admitted to São João Hospital between January 1998 and January 2003. We excerpted data on epidemiology, ophthalmic and non-ophthalmic manifestations, and treatment. RESULTS: We identified 18 patients in nine registered outbreaks. In two patients (11%), ophthalmic manifestations preceded systemic manifestations; in six patients (33%), ophthalmic and systemic manifestations occurred simultaneously; in ten patients (56%), systemic manifestations occurred first. Ophthalmologists had examined only seven patients and made the correct diagnosis in five. The most common ocular symptoms were blurred near vision (100%), blurred distant vision (94%), and diplopia (44%). Accommodation impairment was documented in all seven patients examined by ophthalmologists. CONCLUSIONS: Ophthalmic manifestations were among the earliest and most prominent manifestations of botulism in this series, as in earlier reports. The diagnosis should be suspected when impaired accommodation and gastrointestinal symptoms occur together.