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Results for “Optic Atrophy”

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At least 397 records · Page 22Linked to original sources
PubMed1982

[Spinocerebellar degeneration, optic atrophy, epilepsy, myoclonus and mitochondrial myopathy: a case report (author's transl)].

A 23-year-old man presented with a history characterized by a myoclonic syndrome developing over a period of seven years. Predominant symptoms were intention and activity myoclonus, generalized epileptic seizures occurring infrequently from the age of 20, a slowly progressive cerebellar syndrome first apparent at 19 years, and the sudden onset of loss of visual acuity at 19, which then partially regressed; optic atrophy and clinical and campimetric signs were suggestive of Leber's disease. Intellectual ability was not affected. E.E.G. records showed generalized spike-waves with photosensitivity, progressive reduction in basal rhythm, and sleep organization disturbances with focal abnormalities. Obvious clinical signs of muscle disease were lacking but muscle biopsy confirmed the presence of a mitochondrial myopathy (ragged-red fibers). An indefinite history of familial neurological disease was obtained. Diagnosis was established as myoclonic cerebellar dyssynergy with spastic hereditary ataxia and Leber's disease. Their association with a mitochondrial myopathy has been previously reported by Tsairis et al, Fukuhara et al, Fitzimons et al (familial case), and Niedermeyer et al (sporadic case). In spite of the non-specific nature of associated mitochondrial abnormalities, all these cases would appear to correspond to a single nosological entity.

Adult↗
PubMed1997

Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family.

We describe two siblings affected by a motor and sensory neuropathy starting in childhood. Already in infancy, a spastic gait disturbance had become obvious, leading later to multiple surgical interventions. In adolescence, progressive loss of vision developed. At the time of our examination, both siblings showed severe weakness and atrophy of the distal muscles of legs and arms. Tendon jerks were brisk in proximal muscles; in the lower extremities, muscle tone was increased. Visual acuity was severely decreased. Nerve conduction studies revealed an axonal degeneration. This finding was confirmed by evaluation of a sural biopsy specimen in one patient, showing only few remaining myelinated fibres without signs of demyelination. This combination of hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy shows features of both hereditary motor and sensory neuropathy V and VI according to the classification of Dyck, indicating that these subtypes may not represent distinct entities.

Aged↗
PubMed1979

Foveal cone electroretinograms in strabismic amblyopia: comparison with juvenile macular degeneration, macular scars, and optic atrophy.

A hand-held stimulator-ophthalmoscope was used to elicit foveal cone electroretinograms (ERGs) from fifteen patients with strabismic amblyopia. The ERGs were in response to a 4 degrees stimulus visualized on the fundus and centred on the fovea throughout testing. Foveal cone ERGs from amblyopic eyes were normal in amplitude and normal in b-wave implicit time. Interocular differences in ERGs in patients with amblyopia were no greater than those in normal subjects. Patients with comparable visual acuity loss due to macular scars or juvenile hereditary macular degeneration had abnormal foveal cone ERGs, while patients with optic atrophy had normal responses. These findings support the idea that the defect in strabismic amblyopia does not involve a functional abnormality in the fovea distal to the ganglion cell layer.

Adolescent↗
PubMed2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss-of-function (LOF) variants in PIP5K1C, reported in only two families to date. It typically presents with severe fetal akinesia, arthrogryposis multiplex congenita, and perinatal lethality due to respiratory insufficiency case. Herein, we report a new case with survival beyond birth. Prenatal findings included clubfeet with preserved amniotic fluid volume and fetal movements. The infant was delivered by cesarean section at 37 + 7 weeks following breech presentation and developed respiratory distress requiring 14 days of ventilatory support. Physical examination revealed bilateral talipes equinovarus, flexion contractures of the knees, restricted hip mobility, clenched hands with flexion contractures of the third and fourth fingers, and hyperextension of the second and fifth fingers. Neurologically, he had encephalopathy, profound hypotonia with a frog posture, and abnormal neonatal reflexes with a discontinuous background pattern on cerebral function monitoring. Additional observed features were bilateral optic atrophy and hyperinsulinemic hypoglycemia responsive to Diazoxide. Trio genome sequencing identified a homozygous pathogenic splice-site variant in PIP5K1C (c.1127+1G>A, NM_012398.3). The infant died at 6 months from multisystemic failure. Further studies are warranted to elucidate the pathomechanisms underlying the PIP5K1C defect and its phenotypic consequences.

LCCS3↗