Biomaterial Database

Skew deviation and ocular tilt reaction as presenting feature of CACNA1A mutation. 2023

Samira Yadegari

Department of Neuro-Ophthalmology and Strabismus, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran, Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: yadegarisamira@yahoo.com.

We report the case of a 9-year-old girl with aggravation of childhood left head tilt without diplopia. She had right hypertropia and right incyclotorsion, which was compatible with skew deviation and ocular tilt reaction (OTR). She had ataxia, epilepsy, and cerebellar atrophy. Her OTR and neurologic dysfunctions were secondary to a channelopathy caused by CACNA1A mutation.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004172	Diplopia	A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE.	Double Vision,Polyopsia,Diplopia, Cortical,Diplopia, Horizontal,Diplopia, Intermittent,Diplopia, Monocular,Diplopia, Refractive,Diplopia, Unilateral,Diplopia, Vertical,Cortical Diplopia,Cortical Diplopias,Diplopias,Diplopias, Cortical,Diplopias, Horizontal,Diplopias, Intermittent,Diplopias, Monocular,Diplopias, Refractive,Diplopias, Unilateral,Diplopias, Vertical,Horizontal Diplopia,Horizontal Diplopias,Intermittent Diplopia,Intermittent Diplopias,Monocular Diplopia,Monocular Diplopias,Polyopsias,Refractive Diplopia,Refractive Diplopias,Unilateral Diplopia,Unilateral Diplopias,Vertical Diplopia,Vertical Diplopias,Vision, Double
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001259	Ataxia	Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.	Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias
D013285	Strabismus	Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)	Concomitant Strabismus,Dissociated Horizontal Deviation,Dissociated Vertical Deviation,Heterophoria,Heterotropias,Hypertropia,Non-Concomitant Strabismus,Nonconcomitant Strabismus,Phorias,Squint,Strabismus, Comitant,Strabismus, Noncomitant,Convergent Comitant Strabismus,Mechanical Strabismus,Comitant Strabismus,Comitant Strabismus, Convergent,Deviation, Dissociated Horizontal,Dissociated Horizontal Deviations,Dissociated Vertical Deviations,Heterophorias,Heterotropia,Horizontal Deviation, Dissociated,Hypertropias,Non Concomitant Strabismus,Noncomitant Strabismus,Phoria,Strabismus, Concomitant,Strabismus, Convergent Comitant,Strabismus, Mechanical,Strabismus, Non-Concomitant,Strabismus, Nonconcomitant
D015220	Calcium Channels	Voltage-dependent cell membrane glycoproteins selectively permeable to calcium ions. They are categorized as L-, T-, N-, P-, Q-, and R-types based on the activation and inactivation kinetics, ion specificity, and sensitivity to drugs and toxins. The L- and T-types are present throughout the cardiovascular and central nervous systems and the N-, P-, Q-, & R-types are located in neuronal tissue.	Ion Channels, Calcium,Receptors, Calcium Channel Blocker,Voltage-Dependent Calcium Channel,Calcium Channel,Calcium Channel Antagonist Receptor,Calcium Channel Antagonist Receptors,Calcium Channel Blocker Receptor,Calcium Channel Blocker Receptors,Ion Channel, Calcium,Receptors, Calcium Channel Antagonist,VDCC,Voltage-Dependent Calcium Channels,Calcium Channel, Voltage-Dependent,Calcium Channels, Voltage-Dependent,Calcium Ion Channel,Calcium Ion Channels,Channel, Voltage-Dependent Calcium,Channels, Voltage-Dependent Calcium,Voltage Dependent Calcium Channel,Voltage Dependent Calcium Channels
D015835	Ocular Motility Disorders	Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)	Brown Syndrome,Brown Tendon Sheath Syndrome,Brown's Syndrome,Convergence Insufficiency,Eye Movement Disorders,Internuclear Ophthalmoplegia,Ocular Torticollis,Opsoclonus,Parinaud Syndrome,Skew Deviation,Smooth Pursuit Deficiency,Brown's Tendon Sheath Syndrome,Convergence Excess,Cyclophoria,Deficiency, Smooth Pursuit,Eye Motility Disorders,Parinaud's Syndrome,Paroxysmal Ocular Dyskinesia,Pseudoophthalmoplegia,Spasm of Conjugate Gaze,Syndrome, Brown's Tendon Sheath,Tendon Sheath Syndrome of Brown,Browns Syndrome,Conjugate Gaze Spasm,Conjugate Gaze Spasms,Convergence Excesses,Convergence Insufficiencies,Cyclophorias,Deficiencies, Smooth Pursuit,Deviation, Skew,Deviations, Skew,Dyskinesia, Paroxysmal Ocular,Dyskinesias, Paroxysmal Ocular,Excess, Convergence,Eye Motility Disorder,Eye Movement Disorder,Gaze Spasms, Conjugate,Insufficiencies, Convergence,Insufficiency, Convergence,Internuclear Ophthalmoplegias,Ocular Dyskinesia, Paroxysmal,Ocular Dyskinesias, Paroxysmal,Ocular Motility Disorder,Ophthalmoplegia, Internuclear,Ophthalmoplegias, Internuclear,Parinauds Syndrome,Paroxysmal Ocular Dyskinesias,Pseudoophthalmoplegias,Pursuit Deficiencies, Smooth,Pursuit Deficiency, Smooth,Skew Deviations,Smooth Pursuit Deficiencies,Syndrome, Brown,Syndrome, Brown's,Syndrome, Parinaud,Syndrome, Parinaud's