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PubMed1978

[Familial incidence of juvenile diabetes mellitus and primary optic atrophy (author's transl)].

The syndrome of juvenile diabetes mellitus, primary optic atrophy and hydronephrosis, hydroureter and megacystis was observed in two brothers. One patient showed consistent elevation of the plasma creatine phosphokinase activity (isoenzymes MM 71%, MB 29%), without any sign of myocardial or skeletal muscle disease. This rare syndrome is inherited in an autosomal recessive manner. It has not yet been reported in Austria, to our knowledge.

Child↗
PubMed2002

Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.

PEHO syndrome (progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy) is a neurodegenerative disorder first characterized in Finnish patients. Subsequent reports have occasionally identified cases of PEHO occurring in some other countries. We describe two Dutch children who represent the first reported cases with PEHO syndrome from western Europe. Both of these children showed typical characteristics of the syndrome, including generalized hypotonia and edema of their faces and extremities, profound psychomotor retardation, progressive cerebellar atrophy, and severe epilepsy which initially started as infantile spasms. Our experience has shown that distinguishing cases with true PEHO from those with other, clinically similar disorders requires a firm demonstration of both the presence and the progress of typical neuroradiological findings. Our present cases suggest that 1) PEHO syndrome is not limited to Finnish heritage, and that 2) many more patients with PEHO could be identified with increased knowledge of the syndrome.

Brain Damage, Chronic↗
PubMed1994

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varying density. We examined three extended Danish pedigrees using highly informative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)n dinucleotide repeat polymorphism at locus D3S1314 (Zmax = 10.34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter).

Chromosome Mapping↗
PubMed2001

Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29.

The dominant optic atrophy gene (OPA1) has previously been mapped to chromosome 3q28-q29. We have now constructed a physical and transcriptional map across the OPA1 critical region between markers D3S3557 and D3S3346. It comprises 21 sequence-tagged sites (STSs), 4 single nucleotide polymorphisms, 29 expressed sequence tags, 2 known genes, and 12 newly generated STSs anchored onto 21 yeast artificial chromosome, 22 bacterial artificial chromosome, 48 P1 phage artificial chromosome, and 42 cosmid overlapping clones spanning 2.5 Mb. The map has allowed us to order many of the markers hitherto only roughly defined and to exclude 23 of the putative candidate genes assigned to the region. We found the OPA1 critical interval to be 450-550 kb. It contains 2 known genes, RPL35a and SDHA, which thus constitute candidate genes.

Chromosomes, Human, Pair 3↗
PubMed2001

The pupil in dominant optic atrophy.

PURPOSE: To compare visual and pupil afferent function in dominant optic atrophy (DOA). METHODS: Patients with DOA who belonged to families showing evidence of linkage to the locus on chromosome 3q28-qter were recruited from the Moorfields Genetic Register. Patients and healthy control subjects underwent visual and pupil perimetry using a modified automated perimeter (Octopus 1-2-3; Interzeag, Schlieren, Switzerland). Five stimulus locations were tested: fixation, and at 17 degrees eccentricity along the 45 degrees and 135 degrees meridians in all four quadrants. The visual deficit (difference in decibels between the patient's luminance threshold and that in age-matched healthy control subjects) was compared directly with the pupil deficit (difference in decibels between the stimulus intensity giving the patient's pupil response and that giving an equivalent pupil response in healthy control subjects) at each test location. RESULTS: Visual deficits and pupil afferent deficits were found at all five locations. The visual deficits were significantly greater than the pupil deficits at the four peripheral locations (median difference = 6.3 dB, P: < 0.001). At fixation, the difference was not significant (median difference = 2.3 dB, P: = 0.407). CONCLUSIONS: Pupil function appears less affected than visual function at four of five locations tested. This result provides evidence that the retinotectal fibers serving the pupil light reflex are less susceptible to damage from the OPA1 genetic defect than the retinogeniculate fibers serving vision.

Adolescent↗
PubMed1976

Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.

A few rare syndromes have been delineated in which diabetes mellitus is inherited in association with other conditions. This paper describes five patients, including four siblings in one family, who have diabetes insipidus, diabetes mellitus, optic atrophy and deafness (the DIDMOAD syndrome). The parents of both families are normal but are first cousins. All the patients have insulin-dependent diabetes mellitus with a typical juvenile-onset. The onset of diabetes insipidus was insidious and the symptoms could easily have been ascribed to poor control of diabetes mellitus. The importance of diagnosing diabetes insipidus is that all these patients had dilatation of the urinary tract varying from mild hydroureter to severe hydronephrosis and this improved with treatment of the diabetes insipidus. It is suggested that patients with diabetes mellitus and optic atrophy should have regular screening tests for diabetes insipidus since it is likely that they represent cases of the full syndrome with incomplete clinical expression. The occurrence of this rare syndrome in four siblings of unaffected parents indicates that the syndrome is due to a recessive gene, but the pathogenesis is unknown.

Adolescent↗
PubMed1998

Colour discrimination ellipses in patients with dominant optic atrophy.

Many colour tests require a visual acuity of at least 0.1, making them unsuitable for low vision patients. To assess colour vision in patients with sub-normal acuity, we re-designed a previously described test so that its spatial details would be coarse enough to be resolvable by subjects with severe visual impairment. The test measures chromatic discrimination along 20 axes evenly spaced in CIE 1976 L*u*v* colour space. We detail the results for this test in a group of patients with dominant optic atrophy. Despite the lack of evidence for genetic heterogeneity in dominant optic atrophy, we observed phenotypic variation both between and within families.

Adult↗
PubMed1986

Optic atrophy in Wolfram syndrome.

The clinical and electrophysiologic findings in 11 cases of Wolfram syndrome are presented. These findings suggest that optic atrophy in Wolfram syndrome is not secondary to retinal pathology, but probably represents part of a generalized degeneration of neural structures. The relationship of diabetes mellitus to this process of neural degeneration remains unclear.

Adolescent↗
PubMed1980

Behçet's disease: an unusual case with bilateral obliterating retinal panarteritis and ischemic optic atrophy.

Report of an unusual case of Behçet's disease with bilateral obliterating retinal panarteritis and ischemic optic atrophy. The rarity of the primary optic nerve involvement and chiefly the exceptional full acute bilateral occlusion of the retinal arteries are emphasized. This ophthalmoscopic picture is further clinical evidence for the major importance of the vascular involvement in the pathogenesis of Behçet's disease.

Adolescent↗
PubMed2000

Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation.

An 8-year old girl with a not previously described type of complicated hereditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Severe delay in mental development was observed. Peripheral neuropathy and optic atrophy developed at 5 years of age. On brain magnetic resonance imaging, an abnormally thin corpus callosum was observed. Involvement of the fasciculus gracilis was suggested by somatosensory evoked potentials. To our knowledge, there has been no reported case of complicated HSP with peripheral neuropathy, optic atrophy and mental retardation so far. We postulate that our patient is a sporadic case of not previously described complicated HSP.

Agenesis of Corpus Callosum↗
PubMed1996

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.

There are a large number of well recognised syndromes comprising cerebellar ataxia in association with other neurological features. We report three family members who presented with a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. All three patients have areflexia (in the absence of a peripheral neuropathy), a pes cavus deformity, and show varying degrees of severity. Extensive neurological investigations have been normal, and the aetiology and pathophysiology of this disorder remain unclear. This may represent a separate syndrome of early onset cerebellar ataxia with associated features ("cerebellar ataxia plus"), which is likely to either have an autosomal dominant or maternal mitochondrial pattern of inheritance. The recognition of this association under the acronym of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural deafness) may help in the delineation of a new syndrome.

Abnormalities, Multiple↗
PubMed1998

Treatment with AC pulsed electromagnetic fields normalizes the latency of the visual evoked response in a multiple sclerosis patient with optic atrophy.

Visual evoked response (VER) studies have been utilized as supportive information for the diagnosis of multiple sclerosis (MS) and may be useful in objectively monitoring the effects of various therapeutic modalities. Delayed latency of the VER, which reflects slowed impulse transmission in the optic pathways, is the most characteristic abnormality associated with the disease. Brief transcranial applications of AC pulsed electromagnetic fields (EMFs) in the picotesla flux density are efficacious in the symptomatic treatment of MS and may also reestablish impulse transmission in the optic pathways. A 36 year old man developed an attack of right sided optic neuritis at the age of 30. On presentation he had blurring of vision with reduced acuity on the right and fundoscopic examination revealed pallor of the optic disc. A checkerboard pattern reversal VER showed a delayed latency to right eye stimulation (P100 = 132 ms; normal range: 95-115 ms). After he received two successive applications of AC pulsed EMFs of 7.5 picotesla flux density each of 20 minutes duration administered transcranially, there was a dramatic improvement in vision and the VER latency reverted to normal (P100= 107 ms). The rapid improvement in vision coupled with the normalization of the VER latency despite the presence of optic atrophy, which reflects chronic demyelination of the optic nerve, cannot be explained on the basis of partial or full reformation of myelin. It is proposed that in MS synaptic neurotransmitter deficiency is associated with the visual impairment and delayed VER latency following optic neuritis and that the recovery of the VER latency by treatment with pulsed EMFs is related to enhancement of synaptic neurotransmitter functions in the retina and central optic pathways. Recovery of the VER latency in MS patients may have important implications with respect to the treatment of visual impairment and prevention of visual loss. Specifically, repeated pulsed applications of EMFs may maintain impulse transmission in the optic nerve and thus potentially sustain its viability.

Adult↗
PubMed2005

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old. We performed a genome-wide screen including 25 affected individuals and 49 of their unaffected relatives. Linkage was detected at 11q13 region with a maximum logarithm of odds score of +14.43, obtained with marker D11S1883. The candidate region, which lies between D11S1908 and D11S1889, encompasses approximately 4.8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN (spastic paraplegia, optic atrophy, and neuropathy) for this complex syndrome.

Abnormalities, Multiple↗
PubMed1997

Functional magnetic resonance imaging of visual function in postpapilledema optic atrophy.

We studied a girl with intraventricular brain tumor who developed postpapilledema optic atrophy and severe concentric visual field constriction in both eyes. The patient had mild symptoms despite severe visual field loss. We performed functional magnetic resonance imaging using two kinds of visual stimulation to assess her residual visual function. The functional magnetic resonance imaging demonstrated that the activity in her association visual cortex was largely intact bilaterally, although the activation of the calcarine cortex was decreased in the left calcarine cortex. Her activity in the visual cortex seemed to correspond well to her visual symptom. Functional magnetic resonance imaging may be useful in objectively documenting residual visual function in patients with severe visual loss.

Adolescent↗
PubMedDate not supplied

Diabetes mellitus and optic atrophy in two siblings: a report on a new association and a review of the literature.

Two siblings with diabetes mellitus and optic atrophy (Wolfram syndrome) are described. As often noted, they also had atonic urinary bladders. Only one of the siblings had some impairment of hearing. Other findings not previously reported that appeared in each subject were esophageal dysphagia and vertigo. An autopsy in one revealed brain stem hypoplasia and thinning and flattening of the optic nerves with atrophy of the lateral geniculate bodies.

Adult↗