For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310). Social targets eyes are a rich source of information: partners with dilated and constricted pupils are perceived positively and negatively, respectively. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021). The colored ring around the pupil is the iris. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. The pupils are small circular openings that control how much light enters the eyes. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Causes of miosis The size of your pupil is controlled by two counteracting muscles the. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Constricted or dilated pupils can be an important clue to help your doctor diagnose your condition. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. Some individuals with RAB18 deficiency also have epilepsy. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID) those with Martsolf syndrome have mild to moderate ID. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings).
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