Purpose To assess the prevalence of Cystoid macular edema (CME) in children with early onset retinal dystrophies (EORD) and to evaluate if there are associated factors and/or response to early treatment. Methods Consecutive, retrospective case series. Medical records of patients, 18 years or younger, diagnosed with EORD were included in the study. Optic coherence tomography (OCT) scans, clinical and genetic characteristics as well as other associated factors were analyzed. Main outcome was the presence of CME on OCT scans. Results One hundred and two children with EORD (aged 1–18 years, mean 9.7 ± 4.2) were recruited. OCT was performed in 60/102 and among them, 19/60 had CME (31.7%). The disease-causing gene was identified in 13 children with CME; autosomal-recessive inheritance was found in 88.3% of those with an identified genotype. Children with Usher syndrome had CME in 44.4% of the cases. Early treatment of CME resulted in variable response. Conclusions Our results show that 31.7% of children with EORD who underwent OCT have macular edema. CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. Additional prospective research is needed to assess the efficacy of early CME treatment in pediatric EORD patients.
W e describe a novel case of benign idiopathic unilateral gaze-evoked and convergence-evoked eyelid nystagmus in an otherwise healthy adult. To the best of our knowledge, it is the first such described case.The term "eyelid nystagmus" (also known as "upper lid jerks" and "lid hopping") is a rare phenomenon characterized by a rapid, rhythmic jerking of the upper eyelids and consisting of a fast upward flick, followed by a slower downward drift (1). Pick first used the term in 1916 to describe a nystagmus-like movement of the upper eyelids evoked by convergence in a young woman (2). Pick's patient suffered from multiple sclerosis and spastic quadriparesis (1). Pick hypothesized that lid nystagmus may reflect abnormal excitation within the oculomotor nuclei radiating to the cell bodies that control the levator muscle function. Gaze-evoked lid nystagmus was first reported by Popper, also in 1916 (1).Subsequently, Sanders et al (2) defined the following types of eyelid nystagmus: (1) normal coordinated movements of the lids and eyes during evoked or spontaneous vertical ocular nystagmus; (2) a convergence-evoked lid nystagmus in the absence of ocular nystagmus, as described by Pick; and (3) a synchronous jerking of the upper eyelid with a fast phase of lateral gaze-evoked nystagmus, as described by Popper.Eyelid nystagmus has been associated with numerous pathological conditions, including midbrain tumors, pontine or mesencephalic hemorrhage, Wallenberg syndrome, pontomesencephalic stroke, cerebellar tumor and trauma, brainstem angioma, Miller-Fisher syndrome, and chronic alcohol abuse. Eyelid nystagmus was also described as a sign of drug intoxication (3).A 54-year-old female patient was referred for evaluation of unusual movements of the right eyelid, noted by her orthoptist to whom she was referred because of convergence insufficiency. The patient had never noted the eyelid
A 70-year-old woman was urgently referred for neuro-ophthalmic evaluation when a routine visual field test demonstrated a pattern of bilateral nasal hemianopia. Detailed inspection of the visual field study revealed the hemianopias to be artifactual for the following reasons: (1) it was performed with an excessive number of false positive responses; (2) the grey scale plot had white patches, consistent with abnormally high sensitivity; (3) the total deviation probability maps were normal, indicating that no tested points had poor scores. Confrontational visual field testing was normal in all zones for both eyes. Repeated visual field testing showed no evidence of a true hemianopia. Even automated visual fields with highly specific abnormalities can merely be testing artifact. Scrutinize all components of the report before determining the clinical implications.
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