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PubMed1998

Monocular band optic atrophy.

Band or "bow tie" optic atrophy is characterized by well-described ophthalmoscopic findings in the optic nerve and nerve fiber layer and homonymous hemianopia. It is typically associated with compressive lesions of the pregeniculate postchiasmal visual pathway or, less commonly, congenital malformations affecting the postgeniculate radiations or cortex. A unique case with band optic atrophy is described because of the unilateral visual defect. The optic atrophy is strictly unilateral and without an obvious structural lesion that could explain the optic disc damage. However, incidental cerebral gray matter cortical heterotopia may mark a congenital insult that contributed to both of these abnormal findings.

Child↗
PubMed2006

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

Autosomal dominant optic atrophy (ADOA) is the most common inherited optic atrophy. Clinical features of ADOA include a slowly progressive bilateral loss of visual acuity, constriction of peripheral visual fields, central scotomas, and color vision abnormalities. Although ADOA is the most commonly inherited optic atrophy, autosomal recessive, X-linked, mitochondrial, and sporadic forms have also been reported. Four families with X-linked optic atrophy (XLOA) were previously described. One family was subsequently linked to Xp11.4-Xp11.2 (OPA2). This investigation studied one multi-generation family with an apparently X-linked form of optic atrophy and compared their clinical characteristics with those of the previously described families, and determined whether this family was linked to the same genetic locus. Fifteen individuals in a three-generation Idaho family underwent complete eye examination, color vision testing, automated perimetry, and fundus photography. Polymorphic markers were used to genotype each individual and to determine linkage. Visual acuities ranged from 20/30 to 20/100. All affected subjects had significant optic nerve pallor. Obligate female carriers were clinically unaffected. Preliminary linkage analysis (LOD score = 1.8) revealed that the disease gene localized to the OPA2 locus on Xp11.4-Xp11.2. Four forms of inherited optic neuropathy, ADOA, autosomal recessive optic atrophy (Costeff Syndrome), Leber hereditary optic neuropathy, and Charcot-Marie-Tooth disease with optic atrophy, are associated with mitochondrial dysfunction. Future identification of the XLOA gene will reveal whether this form of optic atrophy is also associated with a mitochondrial defect. Identification of the XLOA gene will advance our understanding of the inherited optic neuropathies and perhaps suggest treatments for these diseases. An improved understanding of inherited optic neuropathies may in turn advance our understanding of acquired optic nerve diseases, such as glaucoma and ischemic optic neuropathy.

Chromosomes, Human, X↗
PubMed1992

Familial optic atrophy with negative electroretinograms.

We describe optic atrophy and abnormal electroretinographic findings in affected members from two families. Central vision failed in the second to third decade of life. Examination findings included visual acuities of 20/20 (1.0) to 20/500 (0.4), defective color vision, mild to moderate myopia, pericentral or centrocecal scotomas, and, in four of five patients, optic atrophy. Dark adaptometry found elevated cone and rod psychophysical thresholds. Bright flash electroretinograms showed normal a-wave amplitude and markedly subnormal b-wave amplitude. Rod responses were low normal to moderately subnormal in amplitude with normal implicit times. Photopic electroretinographic b-wave amplitudes varied from normal to mildly subnormal. Cone implicit times were normal. Because negative electroretinograms are not seen with other familial optic atrophies, the association of optic atrophy with the abnormal negative electroretinogram configuration in these patients represents a newly appreciated genetic disorder.

Adult↗
PubMed1985

Anterior optic nerve blood flow in experimental optic atrophy.

This study attempts to establish whether neurogenic optic atrophy induces changes in anterior optic nerve circulation and to determine how noninvasive techniques of measuring blood flow in vivo compare to microsphere distribution. Five cats underwent unilateral optic nerve transection in the orbital apex and a sham procedure in the contralateral eye. Two to three months later, no abnormalities were detected by fluorescein angiography. Laser Doppler measurements demonstrated a 53% decrease in red blood cell speed through the capillaries of the atrophic optic nerve heads in vivo. Optic disk reflectance measurements of anterior optic nerve blood volume in vivo demonstrated a 51% decrease in the estimated blood volume of the capillaries in atrophic optic nerve heads. Flow was calculated on the basis of these noninvasive measurements and demonstrated an average decrease of 74% in optic atrophy. Histologic studies of microsphere distribution demonstrated an average decrease of 80% in flow to the anterior optic nerve in optic atrophy. These results suggest that anterior optic nerve blood flow is significantly reduced in primary neurogenic optic atrophy. This study also demonstrates that the noninvasive measurements of blood flow are substantiated by histologic evaluation of microsphere distribution.

Animals↗
PubMedDate not supplied

Dimensions of the optic nerves, chiasm, and tracts: MR quantitative comparison between patients with optic atrophy and normals.

OBJECTIVE: The dimensions of the optic nerves, chiasm, and tracts were determined in normal patients and in patients with clinical evidence of optic atrophy to establish whether there was a significant difference between the two groups. MATERIALS AND METHODS: The authors analyzed thin section coronal MRI of 110 patients. Seventy-seven patients were normal, 20 had visual impairment without funduscopic evidence of optic atrophy, and 13 had visual impairment with funduscopic evidence of optic atrophy. RESULTS: The normal mean dimensions were (height x width): optic tracts 2.8 x 5.1 mm; nerves 3.0 x 5.9 mm; chiasm 3.5 x 15.0 mm. The mean dimensions in the optic atrophy group were significantly less (p < 0.01): optic tract 2.1 x 4.7 mm; nerve 2.7 x 5.8 mm; chiasm 2.6 x 12.6 mm. CONCLUSION: The reduced mean dimensions in the optic atrophy group are statistically significant but due to individual variability and errors inherent in measuring small structures, these measurements may be difficult to apply clinically. The most clinically useful measurement is the chiasm width. A width < 13.5 mm correlates well with funduscopic evidence of optic atrophy.

Adolescent↗
PubMed2004

[Leber's hereditary optic atrophy: neurological and other non-optic appearances].

Comparing to other mitochondrial diseases, multisystemic lesions in Leber's hereditary optic atrophy (LHOA) occur less frequently. However, in some cases there are concomitant manifestations, especially neurological ones. Out of thirteen patients examined in the study, 5 exhibited MRI-detected neurological symptoms and changes, which may have concern to the underlying disease, namely LHOA caused by 11778A mutation. Literature and author's own data on neurological spectrum of LHOA and its possible relation to multiple sclerosis are summarized. A rare combination of LHOA caused by 14484C mutation and diabetes mellitus, described first-ever in the present study, is emphasized.

Adolescent↗
PubMed2005

The diagnostic yield of the evaluation for isolated unexplained optic atrophy.

PURPOSE: To report the diagnostic yield for the evaluation of isolated and unexplained optic atrophy. SETTING: Two tertiary care academic neuroophthalmology clinics. DESIGN: Retrospective case series. PARTICIPANTS: Patients with optic atrophy. METHODS: Retrospective review of all charts with the diagnosis of optic atrophy. Included patients were adults with isolated, but unexplained, optic atrophy. Patients were excluded if they were children, had incomplete or inadequate documentation of the findings, had nonneurologically isolated optic atrophy (e.g., other localizing findings), or had a history (e.g., prior neuroimaging study showed a compressive lesion, prior ischemic optic neuropathy) or examination (e.g., central retinal artery occlusion) evidence for an etiology for the optic atrophy. MAIN OUTCOME MEASURE: Results of diagnostic evaluation. RESULTS: A total of 1110 charts with the diagnosis of optic atrophy were reviewed from the 2 participating institutions (368 from the University of Cincinnati and 742 from the University of Iowa). Of these 1110 charts, 91 (8%) with isolated unexplained optic atrophy were included, and 1019 charts (92%) were excluded. Of 91 included patients, 18 (20%) had a compressive lesion causing optic atrophy, and 73 (80%) cases had no etiology for the optic atrophy on neuroimaging. Of the 18 patients with abnormal imaging (e.g., meningioma, pituitary adenoma, craniopharyngioma) studies, 11 had bilateral and 7 had unilateral optic atrophy. Five of the 18 patients had progressive visual loss, 3 had hemianopic visual field loss, and 11 were younger than 50 years old. CONCLUSIONS: Patients with optic atrophy in our study typically had historical or examination findings that led to an etiologic diagnosis. Neuroimaging showed an etiology in 20% of patients. Other laboratory testing did not produce an etiologic diagnosis in the absence of a suggestive history or examination. On the basis of our results, we recommend neuroimaging for all patients with unexplained optic atrophy and consideration for directed laboratory studies only.

Brain Neoplasms↗
PubMedDate not supplied

Ewing's sarcoma in a patient with congenital optic atrophy.

PURPOSE: The authors report Ewing's sarcoma in a patient with congenital optic atrophy. Congenital optic atrophy is an autosomal dominant disorder with variable expression. It manifests itself within the first decade of life and is accompanied by changes in visual acuity. This condition has not been known to cause a predisposition toward malignancy. PATIENT AND METHODS: In this article, a 16-year-old girl with dominant optic atrophy and Ewing's sarcoma is described. RESULTS: After tumor resection, the patient was successfully treated for Ewing's sarcoma with chemotherapy and radiation therapy. Today she has no evidence of malignancy. However, she continues to have deterioration of her visual acuity. CONCLUSION: This report of cancer in a child with dominant optic atrophy suggests the possible need for a higher degree of suspicion of malignancy in these patients.

Adolescent↗
PubMed2005

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

BACKGROUND: Autosomal dominant optic atrophy (ADOA) is the commonest form of inherited optic neuropathy. Mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein underlie ADOA and may perturb the biogenesis and maintenance of mitochondria. OBJECTIVE: To investigate the mutation spectrum of the OPA1 gene and assess alterations in mitochondrial content caused by OPA1 mutations. METHODS: Sixteen Korean patients with clinically suspected ADOA were studied. The mutation spectrum of the OPA1 gene was analyzed by PCR single-strand conformation polymorphism and sequencing, and mitochondrial DNA (mtDNA) content was quantified by real-time PCR. RESULTS: Eight different mutations were found, including five novel mutations. Quantitative real-time PCR analysis showed excellent linearity and precision for the determination of mtDNA copy numbers. The number of mtDNA copies per cell in patients with OPA1 gene mutations (ages 7 to 40) was significantly lower than those in all normal control subjects (p = 0.037), particularly lower than in normal control subjects ages 10 to 39 (p = 0.022). CONCLUSION: The mutation spectrum of the OPA1 gene disclosed marked genetic heterogeneity and the mitochondrial DNA content was found to be lower in autosomal dominant optic neuropathy, which provides direct evidence for a pathogenetic role of mutations of the OPA1 gene.

Adolescent↗
PubMed1997

Optic atrophy in Wolfram (DIDMOAD) syndrome.

Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Incomplete characterisation has caused diagnostic confusion; we therefore undertook a nation-wide cross-sectional case finding study. We identified 45 patients with Wolfram syndrome, median age 29 years. All patients fulfilled the ascertainment criteria (juvenile onset diabetes mellitus and optic atrophy). Optic atrophy presented in 38 patients with reduced visual acuity and colour vision defect (median age 11 years), progressing to visual acuity of 6/60 or less in 35 patients (median time 8 years, range 1-25 years). Visual field examinations recorded before acuity deteriorated showed central scotomas with peripheral constriction. Blind patients had absent pupillary reflexes. Horizontal nystagmus was seen in patients with other signs of cerebellar degeneration. There was no pigmentary retinal dystrophy; only 3 patients had background diabetic retinopathy, despite a median duration of diabetes of 24 years. Electroretinography was normal in 3 patients and showed reduced amplitude in 3 patients; visual evoked responses were abnormal (10/10 patients: reduced amplitude to both flash and pattern stimulation). Magnetic resonance imaging showed generalised brain atrophy with reduced signal from the optic nerves and chiasm. A postmortem brain specimen from one patient revealed atrophy of the optic nerves, chiasm, cerebellum and brainstem. We found no evidence of mitochondrial genome defects or rearrangements. This primary neurogenerative disorder presents with diabetes mellitus and progressive optic atrophy, probably due to pathology in the optic nerve.

Adolescent↗
PubMed2003

[Prevalence of optic atrophy and associated ocular and systemic diseases in a department of paediatric ophthalmology].

BACKGROUND: Optic atrophy is one of the most common causes of severe visual impairment in children. So far an analysis of ocular and systemic findings comparing patients with and without optic atrophy has not performed. PATIENTS AND METHODS: Ocular and systemic findings of a total of 1042 patients (examination of all patients in May 1995 [N = 485] and May 2001 [N = 557]) of the department of paediatric ophthalmology in Homburg/Saar were retrospectively evaluated and diagnoses of patients with and without optic atrophy were compared. Optic atrophy was diagnosed ophthalmoscopically and in 1/3rd of the patients by VEP as well. RESULTS: 18 % of all patients (N = 188; 87.2 % [N = 164] were children) had optic atrophy. Nearly half of these children were prematurely born (46.7 %). 53.2 % of patients with optic atrophy (N = 88) showed nystagmus (without atrophy: 10.7 %), especially sensory defect nystagmus. Median of visual acuity level was 0.2 with optic atrophy and 0.8 without. Albinism and buphthalmia were common findings. 69.5 % of all patients with optic atrophy suffered from systemic diseases (without atrophy: 25.2 %), especially mental retardation, neurologic findings and oculocutaneous albinism. In 10.4 % more than two systemic diagnoses could be found. 55.3 % of all the patients with optic atrophy were disabled, 31.9 % multiply disabled. CONCLUSIONS: Sequelae of prematurity, peripartal asphyxia and congenital brain damages are the main findings in patients with optic nerve atrophy. Such children are worst-case patients of any paediatric ophthalmology department with a high prevalence of severe visual impairment, mental retardation and multiple disability. Treatment in a specialised center is therefore necessary for an efficient therapy. In addition, the statistical survey shows that in children who survived the critical phases of prematurity secondary damages can lead to persistent impairment and to alterations of visual and general development.

Adolescent↗
PubMed2003

Visual function in patients with optic nerve pallor (optic atrophy).

This cross-sectional study assessed the relationship between the degree of optic nerve pallor (optic atrophy) and visual function. Using a set of "gold standard" stereoscopic slides, the severity of optic atrophy for 270 eyes, each having sustained a bout of optic neuropathy, was graded. Good visual acuity was found in 55/86 (64.0%) mild, 54/119 (45.4%) moderate, and 21/65 (32.3%) marked optic atrophy eyes. Good visual field was found in 6/28 (21.4%) mild, 4/43 (9.3%) moderate, and 2/28 (7.1%) marked optic atrophy eyes. Good color vision was found in 31/46 (67.4%) mild, 12/62 (19.4%) moderate, and 7/31 (22.6%) marked optic atrophy eyes. A significant rank correlation was observed between optic atrophy and visual acuity (P < 0.001; rs = 0.356), visual field (P < 0.001; rs = -0.398), and color vision (P < 0.001; rs = -0.492). As the graded severity of optic atrophy increases, the proportion of eyes with good visual function decreases. Visual field, rather than visual acuity or color vision, appears to be a better indicator of the severity of visual loss, when optic atrophy is present.

Cross-Sectional Studies↗
PubMed1991

Retinochoroidal (optociliary) shunt veins, blindness and optic atrophy: a non-specific sign of chronic optic nerve compression.

Fifteen patients are described in whom the triad of blindness, optic disc swelling followed by optic atrophy, and optociliary shunt veins occurred. The causes of the syndrome included spheno-orbital meningioma, optic nerve glioma, meningocele of the optic nerve, and chronic papilloedema. It is postulated that chronic compression of the intraorbital portion of the optic nerve produces gradual obstruction of the central retinal vein, thus preventing the normal passage of venous blood from the retina through the central retinal vein to the cavernous sinus. Optociliary veins are a pre-existing shunt system that allows retinal venous blood to bypass the central retinal vein and exit from the orbit via the choroidal circulation and its anastomoses.

Adolescent↗
PubMed1978

Retinal vascular changes in retrograde optic atrophy.

Five patients with unilateral optic atrophy of extraocular origin had a normal retinal vasculature. Clinical examination of the patients included color fundus photographs and fluorescein angiography. After comparing the blood vessels in the blind eye with those in the normal fellow eye, we concluded that vascular attenuation is neither invariably associated with optic atrophy, nor solely caused by decreased local oxygen demand in the retina.

Adult↗
PubMed1996

High-resolution magnetic resonance imaging of the intraorbital optic nerve and subarachnoid space in patients with papilledema and optic atrophy.

OBJECTIVE: To evaluate the orbital portion of the optic nerve and the subarachnoid space using fast spin-echo magnetic resonance imaging in normal subjects and in patients with papilledema or optic atrophy. DESIGN: Measurements of the optic nerve complex on coronal images were made using high-resolution magnetic resonance imaging with fast spin-echo sequences. PATIENTS: Twenty-one patients, including 5 patients with papilledema due to congenital hydrocephalus, intracranial tumors, or meningitis, as well as 16 patients with optic atrophy, were studied. Sixteen healthy volunteers served as controls. MAIN OUTCOME MEASURES: The longitudinal diameter of the optic nerve, the longitudinal outer diameter of the subarachnoid space, the diameter ratio, and the area of the subarachnoid space were determined. RESULTS: In normal subjects, the ring-shaped area of high signal intensity that represented the subarachnoid space was widest behind the globe, then narrowed toward the orbital apex. In patients with papilledema, the area of the subarachnoid space was markedly dilated, the optic nerve was compressed, and the nerve sheath was widened, resulting in a small diameter ratio compared with that of controls. Patients with pallor of the temporal aspect of the optic disc appeared to exhibit dilation of the subarachnoid space; the size of the optic nerve was decreased more than that of the nerve sheath, resulting in a small diameter ratio compared with controls. Patients with complete pallor of the disc, however, exhibited hyperintense optic nerve complexes without a ring-shaped appearance toward the orbital apex. CONCLUSION: Fast spin-echo magnetic resonance imaging appears useful for objectively evaluating the optic nerve and surrounding subarachnoid space in patients with papilledema and optic atrophy.

Adolescent↗
PubMed1988

Visual rehabilitation of patients with advanced stages of glaucoma, optic atrophy, myopia or retinitis pigmentosa.

Ninety-six patients with advanced stages of glaucoma, optic atrophy, myopia or retinitis pigmentosa (RP) who could not manage with ordinary spectacles or simple magnifying aids were taken care of at the Low Vision Clinic for rehabilitation and followed for an average of 3.6 years (the glaucoma group) up to an average of 6.0 years (the optic atrophy group). They were given high power optical aids and subjected to educational training in the proper use of these aids for best utilization of residual vision. Many of them (for optic atrophy as high a percentage as 40.7) were taught to use extra macular retina by means of eccentric viewing technique. The mean age of the oldest group, the glaucoma patients, was 69.3 years. The three other groups were about 20 to 25 years younger, on an average. (Another 35 patients were seen for the first series of visits but could not be followed up, the main reasons being death (13 patients) and moving out of the area (9 patients). The mean power of the aids (mainly telescopes) used for distance vision was 2.1 x (RP)-5.3 x (optic atrophy). Increased near addition and hyperocular lenses were the main aids for reading and near vision, the mean power being 17.0 dioptres (glaucoma)-23.5 dioptres (RP)(4.3 x -5.9 x). Aids were also provided for intermediate distance and for "spot use". The mean number of series of visits was 3.1 (myopia)-3.5 (glaucoma) and the average number of 1 h training sessions 2.2 (glaucoma)-2.5 (optic atrophy, RP) per series of visits. With aids and educational training, the mean visual acuity improved on the first series of visits from 0.31 to 0.60 for the glaucoma group, from 0.19 to 0.70 for the optic atrophy group, from 0.12 to 0.68 for the myopes and from 0.35 to 0.52 for the RP group. After the last series of visits acuity was still as good as 0.51, 0.61, 0.73 and 0.45, respectively. The number of individuals able to read newspaper text increased from 16.1% to 100.0% for the glaucoma patients, from 14.8% to 100.0% for the optic atrophy patients, from 75.0% to 100.0% for the myopes, and from 50.0% to 95.5% for the RP patients. The results show clearly that the methods used for rehabilitation of patients with glaucoma, optic atrophy, myopia or RP through optical aids and sessions of educational training are very successful, with substantial improvement of life quality.

Adolescent↗
PubMed1994

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.

Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, neurological abnormalities ('optic atrophy plus' syndrome) and 3-methylglutaconic aciduria (type III) are described. Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, spasticity, ataxia, dysarthria and cognitive deficit. An association with age was found only for spasticity. Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to ataxia, dysarthria and cognitive deficit. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid ranged between 9 and 187 mmol/mol creatinine. The primary enzymatic defect possibly may reside in the mitochondrial respiratory chain.

Adolescent↗