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PubMed2005

[The study on the value of the decompression to the optic nerve channel for the optic atrophy patients].

OBJECTIVE: To evaluate the effective treatment method for the optic nerve atrophy. METHOD: Sixteen patients were diagnosed as optic nerve atrophy by examining the sight, eye base and VEP. There were no occupied lesion in the eye, nose sinus and the intracranial through the CT examination. The visual ability were become worse before the operation. This group of the patients were underwent the eye-nose-ethmoid -sphenoid approach to undergo the decompress of the optic nerve channel. During the operation, the ethmoid was removed and the sphenoid sinus was opened. When the optic nerve channel was found, more than half of it was removed. Then the whole nerve channel was opened. The sheath and the tendon of the optic nerve were opened in longitude direction. The antibiotic, hormone vessel dilation drugs were given. The changes of the visual ability, eye base and VEP between preoperation and postoperation were compared. RESULT: The visual ability and the VEP of 16 cases of the of the patients were improved. A week after the operation and three months latter examination of the eye base showed that ten of the patients got improved and six of them no change. There were no serious postoperative complication. CONCLUSION: The decompression of the optic nerve channel is the ideal method to deal with optic nerve atrophy.

Adult↗
PubMed1997

[The Wolfram syndrome: diabetes mellitus, hypacusis, optic atrophy and short stature in STH deficiency].

HISTORY AND CLINICAL FINDINGS: A 43-year-old man was known for 3 years to have diabetes mellitus. For 2 months before admission he had symptoms of hyperglycaemia with polyuria, polydipsia, weight loss, as well as impairment of vision and declining fitness. In addition to bilateral deafness he was clearly of normally proportioned short stature (150 cm). INVESTIGATIONS: The levels of blood sugar (221 mg/dl), HbA1c(10.2%), triglycerides (496 mg/dl) and cholesterol (323 mg/dl) were raised, while the concentration of somatotropic hormone was diminished, both before and after arginine administration. Fundoscopy revealed concentric diminution of the visual fields with left amblyopia. Visual evoked potentials and colour sense testing revealed bilateral optical atrophy, and the audiogram demonstrated deafness. These findings provided the diagnosis of Wolfram syndrome, namely insulin-dependent diabetes mellitus, deafness, optical atrophy and small stature with somatotropic hormone deficiency. TREATMENT AND COURSE: On insulin treatment the metabolic state became normal (HbA1c 7.5%, normal lipid profile). It was decided that the deficiency in somatotropic hormone regulation did not require treatment. CONCLUSION: Cardinal symptoms of the autosomally recessive Wolfram syndrome are insulin-dependent diabetes and optic nerve atrophy. Several types of hormonal abnormalities are associated with it, including a deficiency in the somatotropic axis. To obtain early and adequate hormonal substitution requires extensive endocrinological diagnosis of a disease which frequently becomes manifest in childhood or adolescence.

Adult↗
PubMed1982

[Electroophthalmological findings in optic atrophies of different etiology (author's transl)].

The recording of visually evoked cortical potentials in response to pattern stimuli of different brightness contrast permits functional examination of the optic nerve. This procedure has already been shown to be useful in inflammatory diseases of the optic nerve. Clinical case studies are presented showing that optic atrophies, independent of their etiology, can be ascertained by visually evoked cortical potentials elicited by pattern stimuli, occasionally also by the application of homogeneous light flashes (brightness responses). The technique is shown to be useful especially in early stages of disorders of the optic nerve.

Adolescent↗
PubMed1994

[Optic atrophy, sensorineural deafness and sensory neuropathy].

We present a patient with slowly progressing optic atrophy, sensorineural deafness and sensory neuropathy. Clinical examination and testing revealed the exclusively sensorineural nature of this syndrome. Nerve biopsy pointed to primary degeneration. Our review of the literature indicates that this syndrome is categorized as heredo-degenerative.

Adolescent↗
PubMed1991

[Neuroretinal rim in eyes with simple optic atrophy].

In comparison with normal eyes, eyes affected by glaucomatous optic nerve damage are characterized by a decreased neuroretinal rim area and an increased optic cup size. This study was performed to find whether eyes with nonglaucomatous optic nerve atrophy and normal eyes differ with respect to the neuroretinal rim. In all, 143 eyes with nonglaucomatous descending optic nerve atrophy and 563 normal eyes were biomorphometrically examined. The area and form of the neuroretinal rim and optic cup and the horizontal and vertical cup-to-disc ratios did not differ significantly between the two groups. These results are in part not supported by data in the literature. If they are confirmed by further studies, they will indicate that measurement of the neuroretinal rim and estimation of the cup-to-disc ratios will not be useful for the diagnosis of damage to the descending nonglaucomatous optic nerve. It will be helpful for the differentiation of eyes with glaucomatous and nonglaucomatous optic nerve atrophy.

Adult↗
PubMed1999

[An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families].

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder that represents the most frequent cause of visual loss among otherwise healthy young men. PATIENTS AND METHODS: We have screened for the most important LHON mutations (primary mutations) and several other previously described mutations (secondary mutations) in 31 Spanish patients suffering from optic atrophy. These individuals fulfilled the clinical criteria for LHON. We have compared the mutation frequencies obtained with those reported in several other countries. We have also followed the segregation of the disease and its associated LHON mutations in five families. The screening has been performed by PCR followed by restriction enzyme digestions and electrophoretic separation. RESULTS: 67.75% of the patients did not harbour any of the studied mutations, whereas 16.13% showed one mutation and the remaining 16.13% carried two Leber mutations in their mitochondrial DNA. The three primary mutations as well as G15257A were the changes most frequently detected (30% each of them). There were no significant differences among the compared populations in terms of frequencies of the primary mutations. In contrast, our patients showed a significantly higher rate of 15257 mutation. CONCLUSIONS: The incidence of primary LHON mutations among the Spanish patients is not statistically different from those observed in other Caucasian populations. Transmission of the mutation to the progeny is not necessarily linked to the transmission of the disease. This fact complicates genetic counselling and makes prenatal diagnosis almost impossible for this disease.

Base Sequence↗
PubMed1982

[DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) with cerebello-pontine atrophy].

The case is reported of a 32-year old women of Dutch origin who presented with diabetes insipidus, diabetes mellitus, atrophy of the optic nerve, and dilatation of the urinary tract, the combination known as "DIDMOAD syndrome". Unusual features of this case were regional atrophy of the cerebellum and the pons, and hydrocephalus internus which were associated with alterations of personality and mental function. The clinical symptoms of the syndrome simulated "essential" type 1 diabetes with advanced complications such as retinopathy and autonomous and peripheral neuropathy. The presence of diabetes insipidus with polyuria and polydipsia was not recognized for years because the symptoms were ascribed to diabetes mellitus. The neurologic and psychological symptoms in this patient suggest a more generalized defect of the central nervous system in this syndrome than has been observed previously. Recognition of the condition is of importance because it requires specific therapeutic measures (e.g. for diabetes insipidus), and because of the genetic and prognostic implications.

Adult↗
PubMed1999

Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration.

PURPOSE: In patients with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome, the pathophysiology underlying early progressive cerebellar and brainstem degeneration and severe epilepsy is unknown. Because insulin-like growth factor (IGF)-1 has been shown significantly to promote survival of cerebellar neurons, we wanted to see if the IGF system played a role in the pathogenesis of cerebellar atrophy. METHODS: We used a sensitive enzyme immunoassay kit for measuring cerebrospinal fluid (CSF) IGF-1 and insulin-like growth-binding protein (IGFBP)-3 in four groups of patients: PEHO syndrome patients (eight), PEHO-like patients (seven), age-matched controls (31), and patients with other types of cerebellar atrophy (11). RESULTS: Patients with PEHO syndrome and those with other progressive, degenerative cerebellar diseases had lower levels of CSF IGF-1 than the controls with other neurologic diseases. The CSF IGF-1 also allowed us to differentiate the "true" PEHO patients from the "PEHO-like" patients (those with similar clinical symptoms but without the typical neuroophthalmologic or neuroradiologic findings). The concentrations of IGFBP-3 did not significantly differ in any of the patient or control groups studied. CONCLUSIONS: CSF IGF-1 levels might be used as a marker of the degeneration of neurons in specific areas.

Atrophy↗
PubMed2006

The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.

The m.13513G > A transition in the mitochondrial gene encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and has been reported to be a frequent cause of Leigh syndrome (LS). We determined the frequency of the mutation in a cohort of 123 patients with reduced complex I activity in muscle (n = 113) or fibroblast (n = 10) tissue. We describe a Pyrosequencing assay for rapid detection and quantification of the m.13513G > A mutation. Two patients with the mutation were identified; both had LS, optical atrophy and a Wolff-Parkinson-White Syndrome (WPWS)-like cardiac conduction defect. The clinical presentation of the m.13513G > A mutation is discussed. We conclude that the m.13513G > A mutation seems not as frequent as previously suggested and is most likely to be present in patients with Leigh (-like) syndrome combined with a complex I deficiency, optic atrophy and/ or WPWS. In addition, we confirmed that the adjacent m.13514A > G mutation is a rare cause of LS or MELAS since no cases with this transition were found.

Cohort Studies↗
PubMed1996

Detection of visual dysfunction in optic atrophy by functional magnetic resonance imaging during monocular visual stimulation.

PURPOSE: To evaluate functional magnetic resonance imaging as an objective method for detecting visual dysfunction in various ophthalmologic disorders involving the optic nerve and the chiasm. METHODS: We performed functional magnetic resonance imaging during monocular visual stimulation on seven patients with visual field loss caused by lesions of the optic nerve and the chiasm and on three normal control subjects with no visual field loss. We correlated static threshold perimetry in the seven patients with the results of functional magnetic resonance imaging. RESULTS: In the three normal control subjects, we found good intrasubject similarity in areas of bilateral occipital lobe activation between monocular stimulation of the right and left eyes. In the patients with unilateral optic neuropathy, including glaucoma, stimulation of the affected eye induced no activation of the primary visual cortex in the portion corresponding to the central visual field defects and reduced activity of the associated visual cortex. In the patients with chiasmal compression, monocular stimulation resulted in a marked asymmetry of activation in the primary visual cortex, which corresponded to the visual field abnormality. CONCLUSIONS: Functional magnetic resonance imaging appears to be useful in confirming the clinical diagnosis of optic atrophy because it can objectively disclose visual field loss, even a small defect such as central scotoma.

Adult↗
PubMed1991

Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications.

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.

Adolescent↗
PubMedDate not supplied

Red cell glutathione in Leber's optic atrophy.

Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.

Adult↗
PubMed2005

Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.

Dominant optic atrophy (DOA) is the most common form of inherited primary optic neuropathy. The purpose of the current study was to report a novel OPA1 splice site mutation and investigate the impact of the mutation on pre-mRNA splicing in a female proband and her father diagnosed with DOA. We evaluated visual acuity, retinal fundi and kinetic visual fields. Color vision phenotypes were determined using the Farnsworth Panel D-15 and the Farnsworth-Munsell 100-hue tests. All 28 coding exons of the OPA1 gene were analyzed with polymerase chain reaction (PCR) amplification and direct sequencing. Total RNA extraction from white blood cells followed by reverse transcription-PCR (RT-PCR) was performed. We identified a novel heterozygous G to A mutation at position +1 of intron 20 (g.IVS20+1G-->A) in both patients. RT-PCR analysis revealed that the first 25 bp from intron 20 plus exon 20 were spliced onto exon 21. No difference in expression of mutant and wild-type transcripts was found within the linear range of amplification. Clinically, both patients exhibited reduced visual acuities, pallor of optic discs, decreased sensitivities of central visual fields and blue-yellow color vision defects. Previously, only one mechanism (skipping of exon) of pre-mRNA splicing defects has been reported among OPA1 splice site mutations. Our study demonstrates that the mechanism of intron retention is a novel type of pre-mRNA splicing defects. The mutant transcript with a premature termination codon is likely to encode a truncated protein, due to a translational frameshift (V672fsX675), that lacks 289 amino acids of the C-terminal end. Therefore, it is suggested that haploinsufficiency underlies DOA in the patients. However, we could not exclude the possibility that the truncated protein has a dominant negative activity because the mutant transcript is insusceptible to nonsense-mediated mRNA decay.

Adult↗
PubMed1976

Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome.

Four patients with diabetes mellitus, optic atrophy, and high-frequency neurosensory hearing loss, two of whom also had diabetes insipidus, are described. The frequency of this syndrome among patients with juvenile diabetes appears to be between 1/148 and 1/175. Because of the progressive nature of the disabilities and the autosomal recessive mode of inheritance, careful monitoring of all juvenile diabetic patients for other signs of the syndrome is warranted.

Adolescent↗