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PubMed2005

The aetiology of optic atrophy in Nigerians--a general hospital clinic study.

This study aimed at reviewing cases presenting with optic atrophy at the eye clinic of the University College Hospital, Ibadan, Nigeria with a view to identifying some of the diagnostic problems. The study was a retrospective review of 100 cases selected by systematic random sampling method of a total of 6160 patients presenting with optic atrophy to the eye clinic over 6 years (April 1990 to March 1996). Diagnosis was based on ophthalmoscopic appearance of optic disc corroborated with visual field studies. The mean age of the patients was 40.8 years. The male to female ratio was 2:1 bilateral. Eighty percentages were bilateral, whereas 20% were unilateral. Only in 38% of cases could the cause of the optic atrophy be identified. The most frequently diagnosed were cranio-orbital neoplasms (8%), those referable to trauma (8%), hydrocephalus (7%), retinitis pigmentosa (3%) and post infectious (2%). Other causes include toxins, congenital, seizure disorders, birth asphyxia and papilloedema. In 62% of cases, the aetiology cannot be satisfactorily elicited. Some suggestions have been made to overcome some of these diagnostic problems.

Adult↗
PubMed1979

Psychophysical and visual evoked potential findings in hereditary optic atrophy.

24 members of families with dominant hereditary optic atrophy were investigated. Visual acuity, Goldmann perimetry, Farnsworth-Munsell 100-hue tests, and visual evoked potentials to flash and pattern-reversal were performed. All except the Goldmann perimetry showed a significant association with the presence of optic atrophy. The flash VEP showed a positive-negative-positive response in most of the affected patients.

Adolescent↗
PubMed1978

Hereditary optic atrophy with probable association with a specific HLA haplotype.

A family with hereditary optic atrophy in 4 members of 3 generations is described. The clinical findings differ from those previously observed in hereditary optic atrophy and in Leber's disease, indicating that the hereditary optic atrophy described in this report represents a new disease entity, which is inherited in an autosomal, dominant way with incomplete penetrance. Analyses of the cerebrospinal fluid and serum did not reveal signs of immunoglobulin synthesis within the central nervous system, i.e. findings encountered in a considerable proportion of patients with optic neuritis. An association was found between the family members affected by the disease and the major histocompatibility system haplotype A2 B8. A linkage thus occurred between the disease and the HLA region on human chromosome No. 6.

Adolescent↗
PubMed2004

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

PURPOSE: To describe the clinical features of and identify the disease-causing mutation in a large Utah family segregating a dominantly inherited syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia. DESIGN: Observational case series. METHODS: Thirty individuals at risk for a syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in a single family underwent clinical examinations and venipuncture. Linkage analysis and mutation screening of the optic atrophy 1 gene (OPA1) were performed. RESULTS: Eighteen individuals demonstrated characteristics of the syndrome. Genetic analysis identified a G-->A substitution at nucleotide position 1334 in exon 14 of OPA1 causing an arginine-to-histidine change (R445H) in all affected members of the family. This change segregated with the disease phenotype in the study family with a LOD score of 7.02 at theta; = 0 and was not found in 200 normal control subjects. Analysis of an unrelated Belgian family with a similar phenotype revealed the same R445H mutation segregating with the disease phenotype. CONCLUSIONS: This study describes a mutation in OPA1 causing a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia. These results expand the spectrum of human disease associated with mutations of OPA1 and indicate that ophthalmologists caring for patients with optic atrophy should inquire about possible associated hearing loss. Although OPA1 is a nuclear gene, the gene product localizes to mitochondria, suggesting that mitochondrial dysfunction may be the final common pathway for many forms of syndromic and nonsyndromic optic atrophy, hearing loss, and external ophthalmoplegia.

Adolescent↗
PubMed1975

A family with Charcot-Marie-Tooth disease and Leber's optic atrophy.

A family has been studied in which members of 4 generations were affected by the hypertrophic type of Charcot-Marie-Tooth disease. The diagnosis was confirmed by electrophysiological studies and by sural nerve biopsy. 10 members of the family, 8 males and 2 females, developed optic atrophy of acute onset with progression over a period of two to six months. The history of visual failure, its maternal inheritance, and the neuro-ophthalmological findings of optic atrophy with bilateral central scotomata were typical of Leber's optic atrophy. 2 members of the family suffered from both Charcot-Marie-Tooth disease and Leber's optic atrophy. There have been a few previous reports of optic atrophy associated with Charcot-Marie-Tooth disease, and in the present family both conditions appeared to have been inherited independently.

Adolescent↗
PubMed1996

Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.

Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.

Adolescent↗
PubMed2005

OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain.

Autosomal dominant optic atrophy (adOA) is the most prevalent hereditary optic neuropathy with moderate to severe visual field loss and loss of retinal ganglion cells. The majority of cases of adOA is associated with mutations in the OPA1 gene. Northern blot analyses showed that OPA1 is expressed in all tissues examined, with the highest transcript level in the retina and in the brain. Here we addressed the cell type-specific expression of the OPA1 protein in human brain sections using immunohistochemical techniques and Western blotting. We studied OPA1 expression in normal cerebellum and various cerebral CNS tissue specimen of different areas obtained at autopsy from patients with no reported neurological symptoms or diseases and no neuropathological alterations using a polyclonal antibody raised against a C-terminal peptide of OPA1. We found OPA1 expression in somata and dendrites of neurons of the layers II-VI of the motor cortex and frontal brain. In the cerebellar cortex, OPA1 expression was detected in the Purkinje cell layer, in the granule cell layer and in the molecular layer. Double-labeling experiments showed also OPA1 expression in GFAP-positive astrocytes. Since mutations in the OPA1 gene specifically causes optic atrophy and occurrence of cerebral anomalies in adOA patients is not characteristic, this finding may suggest different cellular susceptibility of OPA1 in brain and retinal tissues.

Animals↗
PubMed2002

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Dominant optic atrophy (DOA) is the most common form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the responsible gene, OPA1, was recently identified. OPA1 is a mitochondrial dynamin-related GTPase implicated in the formation and maintenance of the mitochondrial network. To date, 62 mutations have been identified in a total of 201 DOA patients. Most of them (90%) are distributed from exons 8 to 28 with a majority in the GTPase domain (54%). None were found in the alternatively spliced exons 4, 4b, and 5b. Half of them are truncative mutations (50%) with a frequent recurrent allele, c.2708delTTAG. Most missense mutations (81%) cluster within the putative GTPase domain. Various pathogenic mechanisms may play a role in OPA1 DOA. Truncative mutations in the N-terminal region and perhaps missense mutations in the GTPase domain lead to a loss of function of the encoded protein and haplotype insufficiency. However, there is a cluster of truncation mutations in the in C-terminus, a putative dimerization domain, that could act through a dominant negative effect. The findings that OPA1-type DOA, as Leber optic neuropathy, is caused by the impairment of a mitochondrial protein address the question of the vulnerability of the retinal ganglion cell in response to mitochondrial defects.

Animals↗
PubMed1997

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease characterised by variable optic atrophy and reduction in visual acuity. It has an insidious onset in the first decade of life and is clinically highly heterogeneous. It is associated with a centrocecal scotoma of varying size and density and an acquired blue-yellow dyschromatopsia. Recent studies of three large Danish pedigrees have mapped a gene for dominant optic atrophy (OPA1) to a 10 cM region on chromosome 3q, between markers D3S1314 and D3S1265 (3q28-qter). Genetic linkage analysis in five British pedigrees confirms mapping to chromosome 3q28-qter. Haplotype analysis of a seven generation pedigree positions the disease causing gene between loci D3S3590 and D3S1305, corresponding to a genetic distance of 2 cM. This represents a significant linkage refinement and should facilitate positional cloning of the disease gene.

Adolescent↗
PubMed1984

Macular reflexes in optic atrophy.

We investigated the annular reflex of the macula and the foveal reflex in 14 eyes with various degrees of optic atrophy by means of red-free fundus photographs. The patients ranged in age from 13 to 34 years (mean age, 25.9 years). We compared our observations with data obtained from 51 age-matched normal eyes. Optic atrophy was found to be associated with changes in the reflexes of the macular area. Alterations occurred in all eight eyes that had visual acuities of 20/50 or worse. Changes in the annular reflex of the macula were more significant in younger patients (less than or equal to 25 years of age) than in older patients. In the younger group, the annular reflex was blunt, distorted, and fragmented, and showed an irregular extension toward the foveal area, whereas in the old group it showed less specific attenuation. Fading of the foveal reflex was observed in both groups. Changes in the retinal reflexes of these patients result from alterations in the ganglion cell and nerve fiber layer and should be included among the signs of optic atrophy. They can help determine the extent of optic atrophy and can be useful clinical clues in children whose optic disks are difficult to examine. They should not be mistaken for signs of associated primary retinal disorders.

Adolescent↗
PubMed1985

Oscillatory potentials of the electroretinogram in patients with unilateral optic atrophy.

The oscillatory potentials (OP) of the electroretinogram (ERG) of 26 patients with unilateral optic atrophy were studied. The severity of optic atrophy was graded according to clinical findings. Three groups of increasing interocular difference in contrast sensitivity and changes of the visual evoked cortical potentials were obtained. No significant difference between the amplitudes or peak latencies of the individual oscillatory peaks or summed amplitudes of the OPs between the affected and control fellows eyes in any group was found. Neither was there any significant interocular differences regarding the a- and b-waves. These findings show that there does not seem to be any major contribution of ganglion cell activity in the generation of the OPs. Secondly, the results do not support the existence of centrifugal optic nerve innervation of the human retina.

Adult↗
PubMed2000

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual acuity, centrocoecal scotoma and bilateral temporal atrophy of the optic nerve with an onset within the first two decades of life. The predominant locus for this disorder (OPA1; MIM 165500) has been mapped to a 1.4-cM interval on chromosome 3q28-q29 flanked by markers D3S3669 and D3S3562 (ref. 3). We established a PAC contig covering the entire OPA1 candidate region of approximately 1 Mb and a sequence skimming approach allowed us to identify a gene encoding a polypeptide of 960 amino acids with homology to dynamin-related GTPases. The gene comprises 28 coding exons and spans more than 40 kb of genomic sequence. Upon sequence analysis, we identified mutations in seven independent families with ADOA. The mutations include missense and nonsense alterations, deletions and insertions, which all segregate with the disease in these families. Because most mutations probably represent null alleles, dominant inheritance of the disease may result from haploinsufficiency of OPA1. OPA1 is widely expressed and is most abundant in the retina. The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity.

Amino Acid Sequence↗
PubMed1980

[Differential diagnosis of hereditary optic atrophy (author's transl)].

The problem of differential diagnosis is discussed with regard to Leber's optic atrophy and dominant optic atrophy occurring in childhood. The discussion is based on case reports on four members of the same family who were affected at very different ages and in whom the disease developed differently. Various symptoms are compared with data already published. It is impossible to classify the members of this family according to any particular group on the basis of these data.

Adult↗
PubMed1996

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.

The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.

Adult↗
PubMedDate not supplied

Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain.

Hereditary optic atrophy is a significant cause of optic atrophy in children. We report two male siblings who suffered profound irreversible loss of vision over a 2-month period. Neither patient had any prior ophthalmic problems. Both siblings had a metabolic disorder characterized by transient episodes of ataxia and paresis, whereas in one brother a slight increase of lactate in blood and cerebrospinal fluid was detected during an acute episode. Respiratory chain defect in complex I was confirmed in one patient.

Adolescent↗
PubMed1987

[Three cases of syphilitic optic atrophy--its clinical features and significance].

Three cases of syphilitic optic atrophy were reported. All 3 cases showed progressive deteriorations of visual acuity, and visual field defects associated with central scotoma. Following optic nerve atrophy, two of them developed the signs and symptoms related to spinal cord involvements, which were considered to be early development of tabes dorsalis clinically. After the introduction of penicillin into the therapy of syphilis, especially neurosyphilis, it has been said that this disease is markedly decreased in incidence, and its clinical features are changed. However, there are some reports stating that neurosyphilis might be still prevalent and more atypical forms of neurosyphilis has been encountered. The incidence of syphilitic optic atrophy is still rare, and there is no difference between its' incidence in old and recent reports. From our recent experience and review of the literatures, it is proposed that we should never forget the existence of syphilis in differential diagnosis of optic nerve atrophy.

Adult↗
PubMed1980

Optic atrophy. Differential diagnosis by fundus observation alone.

In order to assess the contribution of fundus examination to the differential diagnosis of acuqired optic neuropathy, five ophthalmologists viewed 163 fundus stereophotographs of nine disease entities as "unknowns." Glaucoma, central retinal artery occlusion (CRAO), and ischemic optic neuropathy (ION) were diagnosed by at least one observer with an accuracy above 80%. The remaining conditions (optic neuritis; compressive, traumatic, and hereditary optic neuropathies) were correctly identified with less than 50% accuracy. Retinal arteriolar attenuation and sheathing were most helpful in differentiating CRAO and ION. Although pathologic disc cupping often identified glaucoma, it was also seen in 20% of eyes with optic atrophy not associated with glaucoma. Excavation was more profound in glaucoma than in nonglaucomatous optic atrophy, the latter demonstrating relatively greater neuroretinal rim pallor. In 6% of nonglaucomatous optic atrophy eyes, however, disc cupping was misdiagnosed as "glaucomatous." Only 11% of eyes with previously documented papillitis or ION left clues that allowed observers to identify preexisting disc swelling.

Diagnosis, Differential↗
PubMed1992

Color vision in dominant optic atrophy.

The color vision of seven patients with dominant optic atrophy in four different families was studied with the following color vision tests: the Standard Pseudoisochromatic Plates part 2, the Lanthony Tritan Album, the Velhagen Pflügertrident plates, and Farnsworth Panel D 15, the Farnsworth-Munsell 100 hue test, the Nagel anomaloscope, and the Besancon anomalometer. In the first family, the mother, one of the sons, and one of the grandsons were affected. The mother had a deutantritan defect; the son and the grandson both had an undefined red-green and a tritan defect. In the third family, the mother and the son were affected. Only the color vision of the son could be examined. He had a tritan defect. In the fourth family, the mother and the daughter were affected. Both had a deutan defect. In the diagnosis of dominant optic atrophy, it must be remembered that not only blue color vision defects occur, but that other kinds of defects are also possible.

Adult↗