[An unusual cause of optic atrophy in the child].
Explore the source record for details and available documents.
Atrophy↗
SEARCH · Search PubMed
Results for “Optic Atrophy”
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
The Foster Kennedy sign: a case with papilledema contralateral to a sphenoid wing meningioma but without apparent optic atrophy.
A 28 year old lady with a one year history of mental changes and headaches presented with right fundus normal but with marked papilledema on the left. Subsequent evaluation demonstrated a right sphenoid wing meningioma which was successfully removed as an emergency procedure. The case illustrates the well known clinical dictum that the side of unilateral papilledema offers little information concerning tumor localization.
Adult↗
[Qualitative and quantitative diagnostic possibilities of papillary colorimetry].
Papillary colorimetry is a qualitative and quantitative diagnostic method that defines the displacement of the temporal and nasal color ranges on the x;y plane of the German Industrial Standard (DIN) color chart. Starting with normal temporal and nasal papillary stain values, there are, for qualitative diagnosis, four different directions in which the color range can shift from normal values on the DIN color chart, i.e., in connection with simple optic atrophies, optic atrophies due to vascular conditions, hyperemic papillae, and deviations of the color range under vasodilative therapy. Quantitative examinations of optic atrophy using papillary colorimetry have so far been conducted (1) with simple descending atrophies, (2) following anemic papillary infarct, and (3), rudimentarily, in cases of glaucomatous optic nerve head. The best correlation between papillary atrophy and loss of visual function was found with simple optic atrophy. Hence this last-mentioned condition represents the principal area of application of papillary colorimetry as an examination method.
Colorimetry↗
Atrophy of optic nerve fibres in compression of the chiasm. Degree and distribution of ophthalmoscopic changes.
Chiasmal lesions produce a characteristic form of partial optic atrophy, subtly reflected by objective changes in the peripapillary portion of the retinal nerve fibre layer. The degrees and distributions of these changes were documented by fundus photography in a series of steady state patients with different degrees of chiasmal damage from pituitary adenoma. Semi-quantitative analysis disclosed a close correspondence with the degree of functional deficit. The state of the retinal nerve fibre layer can therefore be used as an objective indicator of the occurrence and severity of anatomical, chiasmal damage.
Adult↗
Rod-cone interaction in flicker perimetry: evidence for a distal retinal locus.
The luminance threshold for the detection of 25 Hz flicker was measured in nine patients with retinal disorders under stimulus conditions that have been shown previously to involve an interaction between rod and cone systems. The disorders studied included congenital stationary nightblindness, X-linked juvenile retinoschisis, hereditary dominant optic atrophy, optic atrophy found in association with neurofibromatosis, retinitis pigmentosa, choroideremia, and an acquired diffuse photoreceptor disorder, all of which involve pathologic changes that are presumed to occur primarily at specific levels of the retina. The results are consistent with a distal (outer) retinal locus for the rod-cone interaction.
Adolescent↗
[Cronassial in the treatment of neuropathies and atrophy of the optic nerve].
The study presents the evaluation of treatment by Cronassial of 26 patients including 16 with post-inflammatory optic atrophy, 4 with optic neuritis and 6 multiple sclerosis patients with optic neuropathy. One half of the patients showed an improvement of the visual acuity and visual field, and small improvement of the visual evoked potentials. No improvement of the conductivity of the impulses of the retino-cortical potentials has been observed. The best efficacy of the compound has been seen in the inflammatory conditions of the optic nerve.
Adolescent↗
Correlation between optic disc atrophy and aetiology: anterior ischaemic optic neuropathy vs optic neuritis.
BACKGROUND: The morphologic features of swollen disc in the acute stage of optic neuritis and anterior ischaemic optic neuropathy (AION) have been extensively investigated in contrast to the morphologic features of optic disc atrophy after these events. OBJECTIVE: : A prospective study to evaluate the morphologic features of optic disc atrophy 6 months or more after optic neuritis and nonarteritic AION. PATIENTS AND METHODS: A total of 35 optic discs after nonarteritic AION (n=27) and 24 after optic neuritis (n=19) in otherwise healthy subjects have been evaluated by direct fundoscopic examination with a +90 diopters lens and optic disc photography. The average age of patients at the onset of AION was 57.8 years (range: 38-80) and at the onset of optic neuritis was 32.6 (range: 19-46). The female:male ratio was 18 : 17 in the former and 15 : 9 in the latter. The evaluated parameters included: degree of rim pallor (0 to +3), location of rim pallor, height of rim above the retina, depth and width of cup, peripapillary retinal artery to vein (A : V) ratio, and peripapillary pigment epithelial atrophy. A comparison was made also with 17 age-matched normal discs of 17 patients. Statistical significance was calculated with chi(2) and Fisher's exact test. RESULTS: Most of the discs after AION were paler (+2: 70%, +3: 26%) than after optic neuritis (normal colour: 8%, +1: 58%, P< or =0.007). Rim segmental involvement after AION was usually either superior 'altitudinal' (53%) or inferior 'altitudinal' (29%), whereas after optic neuritis, it was usually either temporal-central (papillomacular) (42%) or diffuse temporal (42%, P<0.0001). Discs had lower A : V ratio (1 : 3, 40%) after AION compared with optic neuritis (1 : 3, 8%) (P=0.007). There were no significant differences between the two groups in height of the rim, cupping, and peripapillary atrophy. CONCLUSIONS: : A combination of the degree of rim pallor, location of rim pallor, and A : V ratio may be of value in assessing the aetiology of optic disc atrophy when no previous clinical data are available and a compressive lesion has been ruled out.
Acute Disease↗
The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.
Multiple mitochondrial dysfunctions syndrome 6 (MMDS6), caused by biallelic likely pathogenic variants in PMPCB, is an extremely rare autosomal recessive childhood-onset neurodegenerative disorder, with only six reported cases to date, most resulting in early mortality. Pathogenic variants in VCP cause multisystem proteinopathy 1 (MSP1), an autosomal dominant adult-onset disorder encompassing inclusion body myopathy (IBM), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), typically presenting in mid-adulthood. We describe a 23-year-old female with two likely pathogenic variants presumed to be in trans in PMPCB and a co-occurring pathogenic VCP variant. She was misdiagnosed for over 20 years with early-onset VCP-related neurodegeneration due to a maternal family history of ALS. Her disease began at birth with microcephaly and progressed throughout childhood, including developmental regression, cerebellar and cerebral atrophy, optic atrophy, seizures, spasticity, dysarthria, and loss of ambulation. Initial genetic testing identified only the familial VCP variant. Updated genomic sequencing at age 23 revealed two likely pathogenic PMPCB variants, strong supporting a diagnosis of MMDS6. Her clinical features closely align with previously reported MMDS6 cases and are inconsistent with the typical adult-onset phenotype of VCP-associated disorders. While she shares overlapping features with VCP-related disease (limb-girdle weakness, spasticity, FTD), the timing and severity of her neurodevelopmental findings support MMDS6 as the primary diagnosis. Early mitochondrial dysfunction may predispose her to an accelerated or more severe future VCP-associated phenotype. This is the first report of combined likely pathogenic and pathogenic variants in PMPCB and VCP respectively, expanding the phenotypic spectrum of both disorders. The case underscores the necessity of periodic re-evaluation with advanced genetic testing, highlights important ethical and familial implications, and informs future diagnosis and management of patients with overlapping rare genetic conditions.
Dual molecular diagnosis↗
A review of the clinical applications of the pattern electroretinogram.
The pattern electroretinogram (PERG) has recently been introduced as a clinical procedure. It has been thought by many to represent activity of the retinal ganglion cells, although this is still a matter of contention. The exciting prospect of a selective test of ganglion cell function led to the application of the PERG in a variety of ophthalmological conditions. In the course of these investigations the PERG was found to be diminished in cases of maculopathy, optic atrophy, optic neuritis, toxic optic neuropathy, neurotransmitter disorders, glaucoma and ocular hypertension and in retinal vascular disorders such as diabetes. It was also affected in some cases of amblyopia. This paper briefly describes the techniques used to record the PERG and reviews current literature pertaining to its clinical application.
Amblyopia↗
[Optic neuritis--from diagnosis to optic nerve transplantation].
Optic neuritis is a clinical syndrome resulting from inflammation, demyelination, or infection of the optic nerve. Its diagnosis and treatment are complicated. In 1884, Nettleship first reported 28 cases of optic neuritis whose clinical symptoms have been accepted up to the present without any change. On the other hand, the development of diagnostic procedures and steroid therapy have also altered the clinical features of optic neuritis. Among several developed diagnostic procedures, the visually evoked cortical potential (VECP) has become a good tool to prove the impairment of the optic nerve. In 1971, we reported a decrease of threshold intensity required to evoke VECPs in optic neuritis patients whose visual acuity was relatively well preserved. In the same year, Halliday et al. reported that pattern VECP (PVECP) was delayed in 93% of patients with multiple sclerosis (MS) without optic neuritis. Stimulated by this report, a great number of studies appeared to show the usefulness of PVECP in the diagnosis of MS. However, few of these studies gave descriptions of ophthalmic findings. PVECP later become known to be closely related with ophthalmic conditions. In the ophthalmological field, we reported the influence of pupillary size, accommodation power, refractive powers, eccentricity of stimulated retinal area, retinal luminance, contrast, wavelengths, spatial and temporal frequencies, stimulus field etc. On the basis of our results, we developed a television display system in 1975 and applied it clinically. In the present study, we reviewed the medical records of a total of 272 cases of optic neuritis who presented in our clinic between 1978 and 1999. In the diagnostic, therapeutic point of view in relation with the data of other countries, the study was important regarding the racial differences and recent conceptions of optic neuritis. The results showed that there were no racial difference in optic neuritis as had been thought. The development from optic neuritis to multiple sclerosis was not less than in Caucasian patients. Regarding steroid therapy, we found that the most effective method was sub-Tenon injection. For cases which recur and progress to optic atrophy, optic nerve transplantation will be needed. Therefore, we have been studying the reconstruction of the optic nerve in Wister rats. We experimentally damaged the ganglion cells by causing ischemic retina with ligation of the ophthalmic artery and cutting the optic nerve just behind the eyeball. To prevent the apoptosis of ganglion cells, we injected various neurotrophic factors such as BDNF, GDNF, and HSP 27 into the vitreous. For effective injection of DNA, electropolation was applied and the best condition for avoiding apoptosis was chosen. Further, in Mx-c-fos transgenic mice, we found that regeneration of ganglion cells was inhibited. Based on the rescue study of the ganglion cells, optic nerve transplantation was performed using an artificial graft in which cultured Schwann cells from the ischiatic nerve, BDNF, CNTF, insulin, and forscolin were compound and bridged to the superior colliculus. The results showed a regeneration rate of the optic nerve axon of 15%. This rate was much higher than in other reports. Keratoplasty and intraocular lens implantation had a relatively long history of research before achieving clinical success. We believe that optic nerve transplantation will one day be successful in clinical treatment in the same way.
Adult↗
[The acute phase of leber's optic nerve atrophy (author's transl)].
Optic atrophy and typical visual field defect were found in two brothers some months following a rapid decrease in visual acuity. The optic disc was hyperemic and edematous, furthermore microangiopathy, hemorrhages, and papilloedema were present in the ocular fundus of the third brother some days after an acute loss of central vision. In the present study the pathogenic and differential diagnostic significance of the acute phase of Leber's optic neuropathy is discussed. Considering the fundus changes in the acute phase and the course of the disease, the authors tend to reject the idea of a hereditary systemic disease of the nervous system. The hereditary factors should be searched neither in the nerve tissue nor in the ectodermal system.
Acute Disease↗
Detection of optic nerve atrophy following a single episode of unilateral optic neuritis by MRI using a fat-saturated short-echo fast FLAIR sequence.
We describe an MRI technique for quantifying optic nerve atrophy resulting from a single episode of unilateral optic neuritis. We imaged 17 patients, with a median time since onset of optic neuritis of 21 months (range 3-81 months), using a coronal-oblique fat-saturated short-echo fast fluid-attenuated inversion-recovery (sTE fFLAIR) sequence. The mean cross-sectional area of the intraorbital portion of the optic nerves was calculated by a blinded observer from five consecutive 3 mm slices from the orbital apex forwards using a semiautomated contouring technique and compared with data from 16 controls. The mean optic nerve area was 11.2 mm2 in the affected eye of the patients, 12.9 mm2 in the contralateral eye (P = 0.006 compared to the affected eye) and 12.8 mm2 in controls (P = 0.03 compared to the affected eyes). There was a significant negative correlation between disease duration and the size of the affected optic nerve (r = -0.59, P = 0.012). The measurement coefficient of variation was 4.8%. The sTE fFLAIR sequence enables measurement of optic nerve area with sufficient reproducibility to show optic nerve atrophy following a single episode of unilateral optic neuritis. The correlation of increasing optic nerve atrophy with disease duration would be consistent with ongoing axonal loss in a persistently demyelinated lesion, or Wallerian degeneration following axonal damage during the acute inflammatory phase.
Adult↗
[Evoked potentials to perception of photic stimuli of different intensity in normal subjects and optic nerve atrophy].
In 30 subjects with normal vision an increase in stimulus brightness (8 gradations) led to reduction in pick-latencies (PL) of II-VII waves and to an increase in their amplitudes (A), maximal in the IV positive wave with PL amounting to 102-109 msec. Atrophy of optical nerves produced an impairment of power processing of the signal and its temporal characteristics, a decline of A III, IV waves (especially pronounced in IV) and a tendency to an increase in A V and VI waves. Informational significance of PL waves and characteristics of information processing with impaired vision are discussed.
Adolescent↗
Bilateral optic nerve atrophy in myotonic dystrophy.
PURPOSE: To document a case of bilateral optic atrophy in a patient with myotonic dystrophy. Myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3. METHODS: Case report, clinical examination, fundus photographs, visual fields, visual evoked potentials, electroretinograms, and genetic studies of a 56-year-old woman clinically diagnosed with myotonic dystrophy. RESULTS: The patient experienced decreased vision consisting of light perception with the right eye and 20/25 with the left. Fundus examination showed bilateral pallor of the optic disks. Intraocular pressure was normal. Visual field testing, visual evoked potentials, and electroretinogram were abnormal. A pathologic CTG expansion in the myotonic dystrophy gene was found. CONCLUSIONS: In a patient with myotonic dystrophy, confirmed with genetic molecular diagnosis, bilateral optic atrophy was present. Optic atrophy should be considered a possible complication of myotonic dystrophy.
3' Untranslated Regions↗
Molecular genetic basis of primary inherited optic neuropathies.
AIM: To review the molecular genetic basis of primary inherited optic neuropathies. METHODS: Medline and Embase search. RESULTS: Inherited optic neuropathies are a genetically diverse group of disorders that present with reduced visual acuity and the clinical appearance of optic atrophy. The inherited optic neuropathies may be sporadic or familial, in which case the mode of inheritance may be Mendelian (autosomal dominant, autosomal recessive, X-linked recessive) or non-Mendelian (mitochondrial). Two genes for dominantly inherited optic atrophy have been mapped (OPA1 and OPA4), of which the gene has been identified in one (OPA1). A gene for recessive optic atrophy (OPA3) has also been identified. X-linked optic atrophy (OPA2) has been mapped but to date no gene has been identified. Mutations in mitochondrial DNA have been identified in Leber's hereditary optic neuropathy. CONCLUSIONS: Mutations in genes from both the nuclear and mitochondrial genomes appear to be responsible. Mitochondrial dysfunction, in the broadest sense, is emerging as central to the pathogenesis of this group of conditions.
GTP Phosphohydrolases↗
LHON and other optic nerve atrophies: the mitochondrial connection.
The clinical, biochemical and genetic features of Leber's hereditary optic neuropathy (LHON) are reviewed. The etiology of LHON is complex, but the primary risk factor is a mutation in one of the seven mitochondrial genes that encode subunits of respiratory chain complex I. The pathogenesis of LHON is not yet understood, but one plausible model is that increased or altered mitochondrial ROS production renders the retinal ganglion cells vulnerable to apoptotic cell death. In addition to LHON, there are a large number of other optic nerve degenerative disorders including autosomal dominant optic atrophy, the toxic/nutritional optic neuropathies and glaucoma. A review of the recent scientific literature suggests that these disorders also involve mitochondrial dysfunction or altered mitochondrial signaling pathways in their pathogenesis. This mitochondrial link provides new avenues of experimental investigation to these major causes of loss of vision.
DNA, Mitochondrial↗
[Eye motion impairment and optic nerve atrophy. A 1-year-old patient with vertical gaze paresis and bilateral optic nerve atrophy].
Explore the source record for details and available documents.
Cerebral Veins↗
Update on hereditary optic neuropathy.
Although no treatment is available for hereditary optic neuropathies, recent localization and identification of some of the genetic loci have helped the evaluation and management of patients with these disorders. This article discusses the clinical features and known genetic information regarding Leber's hereditary optic neuropathy, dominant optic atrophy, recessive optic atrophy, and Wolfram syndrome.
Audiovisual Aids↗