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PubMed1991

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

We investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of the NADH-dehydrogenase 4 gene of mitochondrial DNA, described by Wallace and colleagues in 1988. The proband had bilateral optic atrophy, tremor, dystonia, and sharply defined lesions in the putamen on magnetic resonance images. Optic atrophy was found in another 3 of 13 investigated relatives on the maternal side. Additional neurological signs were found but only in patients with optic neuropathy. The morphological appearance and the respiratory chain function of muscle tissue were investigated in the proband, his mother, and 3 siblings. Polarographic measurements revealed complex I deficiency in the 5 investigated subjects. Morphological changes of mitochondria were found in 4 of these subjects. There was no decrease in complex I activity measured as NADH ferricyanide reductase or rotenone-sensitive NADH cytochrome c reductase activities. In other cases with complex I deficiency, good agreement between polarographic and spectrophotometric measurements was found. This study showed that there is decreased activity of complex I of the respiratory chain in muscle and that cerebral striatal lesions occur in Leber's hereditary optic neuropathy with the NADH-dehydrogenase 4 gene point mutation.

Adolescent↗
PubMed2005

Optic neuropathies--importance of spatial distribution of mitochondria as well as function.

Optic neuropathies such as Leber's hereditary optic neuropathy, dominant optic atrophy and toxic amblyopia are an important cause of irreversible visual failure. Although they are associated with a defect of mitochondrial energy production, their pathogenesis is poorly understood. A common feature to all these disorders is relatively selective degeneration of the papillomacular bundle of retinal ganglion cells resulting central or caecocentral visual field defects. The striking similarity in the pattern of clinical involvement seen with these disparate disorders suggests a common pathway in their aetiology. The existing hypothesis that the optic nerve head has higher energy demands than other tissues making it uniquely dependent on oxidative phosporylation is not satisfactory. First, other ocular tissues such as photoreceptors, which are more dependent on oxidative phosporylation are not affected. Second, other mitochondrial disorders, which have a greater impact on mitochondrial energy function, do not affect the optic nerve. The optic nerve head has certain unique ultra structural features. Ganglion cell axons exit the eye through a perforated collagen plate, the lamina cribrosa. There is a sharp discontinuity in the density of mitochondria at the optic nerve head, with a very high concentration in the prelaminar nerve fibre layer and low concentration behind the lamina. This has previously been attributed to a mechanical hold up of axoplasmic flow, which has itself been proposed as a factor in the pathogenesis of a number of optic neuropathies. More recent evidence shows that mitochondrial distribution reflects the different energy requirements of the unmyelinated prelaminar axons in comparison to the myelinated retrolaminar axons. The heterogeous distribution of mitochondria is actively maintained to support conduction through the optic nerve head. We propose that factors that disrupt the heterogeneous distribution of mitochondria can result in ganglion cell death. Evidence for this comes from studies of cultured cells with the dominant optic atrophy mutation in which mitochondrial distribution is altered and from some forms of hereditary spastic paraparesis which are associated with optic atrophy. The responsible mutations do not affect ATP production until late in the disease but do affect mitochondrial arrangement, again showing that mitochondrial distribution as well as energy production by individual mitochondria may be important in the pathogenesis of ganglion cell death. Greater understanding of the factors localising mitochondria within the ganglion cell axon in particular the interaction with cytoskeleton is required to formulate new treatments. Boosting energy production alone may not be an effective treatment.

Animals↗
PubMed2004

Ocular findings in sickle cell disease patients in Lagos.

Sickle cell disease has varied manifestations in all systems of the body, ocular manifestations can be severe and sudden blindness may result amidst other complications. The study aims at determining the ocular findings in patients with sickle cell anaemia (HbSS) and sickle cell haemoglobin C disease (HbSC). 99 subjects were recruited into the study carried out at the Lagos University Teaching Hospital over a 2 year period. A structured interview questionnaire was administered and physical examination was carried out at the Medical Out Patients' Sickle Cell Clinics. Subsequently in the (Guinness) Eye centre, examination for ocular manifestations was carried out using Snellen's chart, Slit light microscopy, direct and indirect ophthalmoscopy under mydriasis (with Gutt Tropicamide 1% , epinephrine 10% ) as well as tonometry and gonioscopy. The age of the 99 (51 males, 48 females) patients ranged from 13 to 43 years with a mean +/-SD of 20.42 +/- 6.13. There were 88 (88.9% ) SS and 11 (11.1% ) SC patients. The male to female ratio was 1.1: 1. Normal vision was present in 95 (96% ) of the patients [86 (97.8% ) SS and 9 (81.8% ) SC] while 4 (4.0% ) of the patients [2 (2.2% ) SS and 2 (18.2% ) SC] had impaired vision. Of the complaints, blurred vision was found in 12 (13.6% ) SS and one (9.0% ) SC patients. Itching of the eyes was found in 15 (17.0% ) SS and 3 (27.3% ) SC patients. Icterus was found in 50 (50.5% ), conjunctival signs were found in 49 (49.5% ), retinal vascular tortuosity was in 12 (12 .10% ), peripheral retinal degeneration was in 5 (5% ), iridescent spots was in 3 (3% ) and optic atrophy in 2 (2% ) patients. The tortuosity of major fundus vessels were graded into 4 according to Hook and Cooper's criteria 87 (87.9% ) of the patients were in grade 0. The conjunctival vessels anomalies were classified into 5 grades (criteria of Sergeant). 37 (37.5% ) were in grade 0, 35 (35.3% ) in grade 1, 8 (8.1% ) in grade 2, 7 (7.1% ) in grade 3 and 12 (12.1% ) in grade 4. Conjunctival abnormalities occur commonly while proliferative retinopathy and optic atrophy were uncommon in sickle cell disease patients in Lagos. Further studies are required with a larger number of subjects to investigate the low incidence of proliferative retinopathy and optic atrophy in Lagos.

Adolescent↗
PubMed2003

Schnabel cavernous degeneration: a vascular change of the aging eye.

CONTEXT: Schnabel cavernous degeneration is a histologic finding originally attributed to glaucoma; however, its cause and significance have been controversial. OBJECTIVE: To determine the basic cause of the formation of cavernous spaces in the proximal optic nerve and its clinical significance. METHODS: A retrospective analysis of 4500 autopsy eyes processed for histologic evaluation between 1967 and 1991. RESULTS: Ninety-three (2.1% of eyes examined) cases of Schnabel cavernous optic atrophy were identified. The majority of the eyes were from women (81%). The mean age of the entire group was 88 years (reference range, 54-103 years). Severe vascular anomalies were present in 75% of the individuals. Cavernous degeneration was unilateral in 82% of the cases. Loss of ganglion cells and nerve fiber layer consistent with glaucoma was found in 23.7% of the individuals. Clinical information was available for 15 individuals (16%). Half of them were thought to have some clinical optic nerve damage; in the remainder, no specific optic disc abnormalities were noted. Histologic findings of arteriolosclerosis in the optic nerve circulation were common. The prevalence of glaucoma was low. CONCLUSIONS: Schnabel cavernous optic atrophy appears to be a unilateral condition of elderly women with systemic vascular disease and few characteristic ocular features. Our data indicate that a chronic vascular occlusive disease of the proximal optic nerve is more involved in cavernous atrophic pathogenesis than is a sustained increase of intraocular pressure.

Aged↗
PubMed2002

[Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review].

This report describes a 36-year-old female with bilateral optic atrophy. Physical examination was normal except for subclinical signs of lower limbs spasticity. Her father was affected of Strumpell-Lorrain disease. The clinical characteristics of Hereditary Spastic Paraplegia or Strumpell-Lorrain disease are: progressive spasticity of the lower limbs and pathological reflexes. Pathologically, this disease is characterized by a degeneration or demyelinization of the cortico-spinal system and, to a lesser extent, of the posterior cord and the spino-cerebellar system. Optic neuropathy and dyschromatopsy have already been reported in a small group of patients. Visual acuity ranged from 20/20 to 20/200. Visual field alterations consisted of superior bitemporal amputation. Fundus examination showed optic atrophy. The incidence of optic neuropathy in Strumpell-Lorrain disease is quite high but its presence is often overlooked. Most patients are asymptomatic, but signs of optic nerve dysfunction are evident at clinical examination. According to some authors, there is an inverse relationship between the impairment of walking and the visual dysfunction. This was also noted in our case.

Adult↗
PubMed1989

Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases.

Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.

Adult↗
PubMed1992

Critical frequency of photic driving: which part of the visual pathway do we examine?

Studies on critical frequency of photic driving were performed on patients with optic atrophy, moderately expressed suprachiasmal lesions and normal subjects. A reduction was present only in optic atrophy patients. The critical frequency of photic driving showed significant correlations with visual acuity and differential light sensitivity of the areas located within 15 degrees from the fixation point. The correlation proved higher for foveal sensitivity expressed in non-logarithmic rather than in logarithmic units, the opposite being the case for the sensitivity of parafoveal areas. It may be concluded that critical frequency of photic driving is conditioned by the cortical projection zones and visual pathways corresponding to the central 15 degrees of the visual field, but with predominant role of foveal projections.

Adolescent↗
PubMed2002

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) consists of early bilateral optic atrophy, later development of spasticity, extrapyramidal dysfunction and occasionally cognitive deficits, and urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. The presence of the disorder in an Iraqi-Jewish genetic isolate led to mapping of the OPA3 gene to chromosome 19q13.2-q13.3, followed by isolation of the gene itself. OPA3 consists of two exons and codes for a peptide of 179 amino acids. Iraqi-Jewish patients with type III MGA are homozygous for a splice site founder mutation in OPA3 (IVS1-1G>C) which abolishes mRNA expression in fibroblasts. Here we report a novel mutation in OPA3 (320-337del) in a Kurdish-Turkish patient with optic atrophy and 3-methylglutaconic and 3-methylglutaric aciduria, previously carrying the diagnosis of type IV MGA. We conclude that type III MGA occurs in patients of non-Iraqi-Jewish ancestry, and should be considered in patients with type IV MGA that have optic atrophy and ataxia.

Adolescent↗
PubMed1978

Optic nerve in globoid leukodystrophy (Krabbe's disease). Ultrastructural changes.

Globoid leukodystrophy (Krabbe's disease) was diagnosed in an infant in whom a progressive neurological disorder and optic atrophy developed. At autopsy, ultrastructural examination of the optic nerves and cerebral white matter revealed characteristic tubular inclusions in globoid-epithelioid cells. Thinning of the nerve fiber and ganglion cell layers of the retina appeared to be due to retrograde degeneration of the optic nerve related to the abnormal metabolism of myelin. We discuss the pathogenesis of the clinical and pathological ocular findings, with regard to the inherited absence of the enzyme galactocerebroside beta-galactosidase and the accumulation in the optic nerve and brain of its substrates, galactocerebroside and psychosine.

Brain↗
PubMed1986

Optic nerve injury after sudden traumatic rotation of the eye. A case report.

Optic nerve injury is regularly accompanied by signs of local facial or ocular injury, fractures or unconsciousness. The energy of the blow is thought to be delivered to the optic nerve directly by stretching and tearing and by shock wave forces and secondarily as sequelae of contusion. A case is described in which optic nerve injury is caused by a sudden traumatic duction of the eyeball, with all signs of local or systemic contusion missing. During observation the primarily healthy optic nerve head developed subtotal optic atrophy. This case strengthens the belief that the optic nerve is particularly vulnerable to stretching, tearing and torsion.

Blindness↗
PubMed1991

Simultaneous recording of pattern electroretinogram (PERG) and visual evoked potential (VEP) in multiple sclerosis.

We studied 18 multiple sclerosis (MS) patients affected by retrobulbar neuritis (RBN). The patients were subdivided into two groups. Group 1: 14 patients with RBN. Group 2: 4 patients with optic atrophy. An ophthalmological examination (visual acuity, fundus oculi, visual field) was carried out in all the patients. A simultaneous visual evoked potential (VEP) and pattern electroretinogram (PERG) recording at two spatial frequencies (45' and 15') was performed. All the data obtained in Group 1 were compared (Student T-Test) with those of a control group of normal subjects matched for age and sex. Group 1. VEP: a comparison of the data in MS patients affected by RBN with the control group revealed a statistically significant P100 latency delay with both spatial frequencies (P less than 0.001). PERG: no "b" wave latency change at 45' and 15' spatial frequencies were seen. A "b" wave amplitude reduction was observed; this reduction reached significant values at 45' (P less than 0.001). Group 2. In optic atrophies the PERG was absent in 4 eyes at 45' and in 5 eyes at 15'.

Adult↗
PubMed2003

Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case.

Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.

Abnormalities, Multiple↗
PubMed2005

OPA1 expression in the normal rat retina and optic nerve.

Autosomal dominant optic atrophy (DOA) is the most common form of hereditary optic neuropathy. DOA presents in the first decade of life and manifests as progressive vision loss. In DOA retinal ganglion cells and the optic nerve degenerate by an unknown mechanism. The gene mutated in DOA, Optic Atrophy Type 1 (OPA1), encodes a dynamin-related GTPase implicated in mitochondrial fusion and maintenance of the mitochondrial network and genome. Here, we determine which cell types in the normal retina and the optic nerve express OPA1. In the normal rat retina, OPA1 is expressed in the ganglion cell layer as well as in the outer plexiform layer, the inner nuclear layer, and the inner plexiform layer. In the ganglion cell layer, OPA1 is expressed predominantly in retinal ganglion cells. By contrast, OPA1 protein is low or undetectable in astrocytes and oligodendrocytes of the optic nerve. Additionally, OPA1 protein is present in axonal mitochondria. Last, OPA1 expression is present in mitochondria of processes and cell bodies of purified retinal ganglion cells and of the RGC-5 cell line. Thus, OPA1 is predominantly expressed in retinal ganglion cells of the normal rat retina and axons of the optic nerve. These findings may explain the selective vulnerability of retinal ganglion cells to OPA1 loss of function.

Animals↗
PubMed2000

Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.

PURPOSE: To report the identification of a novel mutation of the RP2 gene in two Japanese brothers with X-linked retinitis pigmentosa of a differing clinical severity. The mother was a carrier of both retinitis pigmentosa and optic atrophy. METHODS: The older brother had a severe form of retinitis pigmentosa associated with macular degeneration and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa. RESULTS: Each patient exhibited a novel 2-bp insertion at codon 278 in exon 3 of the RP2 gene as well as a 11778 mutation in mitochondrial DNA. This suggests that the older brother may have developed Leber hereditary optic neuropathy as well as retinitis pigmentosa. CONCLUSION: Molecular testing confirmed the clinical diagnosis in each case. However, such testing did not explain the differences in the severity of the ophthalmoscopic findings between the two brothers.

Adolescent↗
PubMed2006

The ocular features of the mucopolysaccharidoses.

AIMS: The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This study aimed to determine the prevalence and severity of ocular complications in patients with MPS. METHODS: Clinical ophthalmic features and electrodiagnostic results of 50 patients with a diagnosis of MPS were retrospectively reviewed. RESULTS: A total of 79% of MPS IH patients had a visual acuity of less than 6/12 equivalent in their better eye, compared to 44% of MPS IH/S and 25% of MPS VI patients. In total, 16% of MPS IH and 25% of MPS IH/S had severe corneal opacification, compared to 38% of MPS VI patients. 16% of MPS IH patients had optic atrophy; 21% of MPS VI patients had mild disc swelling, 29% had markedly swollen discs, and 14% had optic atrophy. One patient with MPS IH, one with MPS IH/S and six with MPS VI had ocular hypertension. One MPS VI patient had glaucoma that required topical therapy. Nine patients with MPS IH had electrodiagnostic evidence of retinopathy, as did one MPS VI patient. CONCLUSIONS: Ocular complications causing significant reduction in vision are common in MPS. The majority of MPS I and MPS VI patients have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.

Adolescent↗
PubMed1995

Genetic heterogeneity of hereditary motor and sensory neuropathy type VI.

Charcot-Marie-Tooth disease comprises a heterogeneous group of neurologic disorders that shape peripheral motor and sensory neuropathy. A classification of these disorders was proposed in 1975, defining seven types of hereditary motor and sensory neuropathy. Clinical features of hereditary motor and sensory neuropathy type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to optic atrophy. Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with peroneal muscular atrophy in association with optic atrophy. Since then, at least nine similar cases have been reported: three sporadic cases, two pairs of siblings who were offspring of consanguineous parents, and one pair of siblings who were offspring of unrelated parents suggesting autosomal recessive inheritance. Vertical transmission has been reported only by Vizioli. We present a father and two offspring (one boy and one girl) with the above-mentioned characteristic features of hereditary motor and sensory neuropathy type VI. Vizioli's kinship and either an autosomal recessive or autosomal dominant pattern of inheritance.

Child, Preschool↗
PubMedDate not supplied

Multiple pterygium syndrome.

Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).

Abnormalities, Multiple↗