Despite the extensive investigation of binocular and stereoscopic vision, relatively little is known about its importance in natural visually guided behavior. In this paper, we explored the role of binocular vision when walking over and around obstacles. We monitored eye position during the task as an indicator of the difference between monocular and binocular performances. We found that binocular vision clearly facilitates walking performance. Walkers were slowed by about 10% in monocular vision and raised their foot higher when stepping over obstacles. Although the location and sequence of the fixations did not change in monocular vision, the timing of the fixations relative to the actions was different. Subjects spent proportionately more time fixating the obstacles and fixated longer while guiding foot placement near an obstacle. The data are consistent with greater uncertainty in monocular vision, leading to a greater reliance on feedback in the control of the movements.
Binocular vision; Stereo vision; Natural behavior; Fixation patterns; Control of walking
Natural patterned early visual input is essential for the normal development of the central visual pathways and the visual capacities they sustain. Without visual input, the functional development of the visual system stalls not far from the state at birth, and if input is distorted or biased the visual system develops in an abnormal fashion resulting in specific visual deficits. Monocular deprivation, an extreme form of biased exposure, results in large anatomical and physiological changes in terms of territory innervated by the two eyes in primary visual cortex (V1) and to a loss of vision in the deprived eye reminiscent of that in human deprivation amblyopia. We review work that points to a special role for binocular visual input in the development of V1 and vision. Our unique approach has been to provide animals with mixed visual input each day, which consists of episodes of normal and biased (monocular) exposures. Short periods of concordant binocular input, if continuous, can offset much longer episodes of monocular deprivation to allow normal development of V1 and prevent amblyopia. Studies of animal models of patching therapy for amblyopia reveal that the benefits are both heightened and prolonged by daily episodes of binocular exposure.
amblyopia; visual cortex; visual acuity; stereoscopicvision; patching therapy; ocular dominance columns
To characterize how the mechanisms that produce unilateral form-deprivation amblyopia integrate the effects of normal and abnormal vision over time, the effects of brief daily periods of unrestricted vision on the spatial vision losses produced by monocular form deprivation were investigated in infant monkeys.
Beginning at 3 weeks of age, unilateral form deprivation was initiated in 18 infant monkeys by securing a diffuser spectacle lens in front of one eye and a clear plano lens in front of the fellow eye. During the treatment period (18 weeks), three infants wore the diffusers continuously. For the other experimental infants, the diffusers were removed daily and replaced with clear, zero-powered lenses for 1 (n = 5), 2 (n = 6), or 4 (n = 4) hours. Four infants reared with binocular zero-powered lenses and four normally reared monkeys provided control data.
The degree of amblyopia varied significantly with the daily duration of unrestricted vision. Continuous form deprivation caused severe amblyopia. However, 1 hour of unrestricted vision reduced the degree of amblyopia by 65%, 2 hours reduced the deficits by 90%, and 4 hours preserved near-normal spatial contrast sensitivity.
The severely amblyogenic effects of form deprivation in infant primates are substantially reduced by relatively short daily periods of unrestricted vision. The manner in which the mechanisms responsible for amblyopia integrate the effects of normal and abnormal vision over time promotes normal visual development and has important implications for the management of human infants with conditions that potentially cause amblyopia.
Temporal modulation thresholds were determined for monocular viewing and for binocular viewing of stimuli presented in phase or in counterphase to each eye of observers with normal binocular vision and those lacking stereopsis. The results showed that in individuals with normal binocular vision sensitivity was much greater for in-phase than for counterphase stimulation at low temporal frequencies, but that this superiority declined at higher temporal frequencies. Averaged across frequencies, binocular sensitivity for in-phase stimulation was 40-50% higher than monocular sensitivity. In contrast, in the observers lacking stereopsis the ratios of binocular in-phase/monocular sensitivity averaged 1.02, and there were no significant differences in sensitivity to in-phase and counterphase stimulation. This failure of binocular integration at threshold does not result from differences in transmission time between the 2 eyes. However, while individuals lacking stereopsis showed an absence of binocular interaction for uniform-field flicker at threshold, they showed suprathreshold dichoptic temporal frequency masking which was similar to that found in normal persons.
Analysis of data on morbidity in a group of factory workers shows a significant increase when these workers are threatened with and subsequently made redundant. The influence of increasing age and of low prior morbidity are shown to be detrimental to the health of both male and female employees. When these risk factors are combined these employees show a 150% increase in the number of consultations, a 70% increase in the number of episodes of illness, a 160% increase in the number of referrals to hospital outpatient departments and a 200% increase in the number of attendances at outpatient departments.
These changes occur two years before actual job-loss when the workers learn that their employee is in financial difficulty and their jobs are in jeopardy.
It is suggested that older employees demonstrate greater stress because of their poor re-employment prospects and reduced adaptability. It is also suggested that existing differences in consulting tendency might represent differing levels of work attachment among the employees — the low consulters being most strongly oriented towards their jobs and therefore suffering the greater loss when made redundant.
Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early-onset retinal degeneration and vision loss. Furthermore, Aipl1 defects are characterized at the most severe end of the LCA spectrum. The rapid photoreceptor degeneration and vision loss observed in the LCA patient population are mimicked in a mouse model lacking AIPL1. Using this model, we evaluated if gene replacement therapy using recent advancements in adeno-associated viral vectors (AAV) provides advantages in preventing rapid retinal degeneration. Specifically, we demonstrated that the novel self-complementary Y733F capsid mutant AAV2/8 (sc-Y733F-AAV) provided greater preservation of photoreceptors and functional vision in Aipl1 null mice compared with single-stranded AAV2/8. The benefits of sc-Y733F-AAV were evident following viral administration during the active phase of retinal degeneration, where only sc-Y733F-AAV treatment achieved functional vision rescue. This result was likely due to higher and earlier onset of Aipl1 expression. Based on our studies, we conclude that the sc-Y733F-AAV2/8 viral vector, to date, achieves the best rescue for rapid retinal degeneration in Aipl1 null mice. Our results provide important considerations for viral vectors to be used in future gene therapy clinical trials targeting a wider severity spectrum of inherited retinal dystrophies.
Myasthenia gravis is typically a disease of young people in active employment who need a field of binocular single vision. Although it is systemically controllable with a good chance of spontaneous remission, persistent loss of binocularity may cause chronic disability. We report our experience of extraocular muscle surgery in five patients with stable myasthenia gravis and persistent double vision. Extraocular muscle involvement was selective, giving rise to incomitant and concomitant squints, with individual muscle overactions as well as underactions. Treatment was by conventional recession and resection procedures with the additional use of Faden and adjustable sutures where appropriate. In all five cases a larger, stable field of binocular single vision was established. It is concluded that extraocular muscle surgery may be beneficial in selected cases of myasthenia gravis.
AIMS—To determine the improvements in clinical and functional vision and perceived visual disability after first and second eye cataract surgery.
METHODS—Clinical vision (monocular and binocular high and low contrast visual acuity, contrast sensitivity, and disability glare), functional vision (face identity and expression recognition, reading speed, word acuity, and mobility orientation), and perceived visual disability (Activities of Daily Vision Scale) were measured in 25 subjects before and after uncomplicated cataract surgery (10 first eye surgery and 15 second eye surgery) and in 10 age matched controls.
RESULTS—Significant improvements were found after surgery in clinical and functional vision and perceived visual disability. Greater improvements were found after first eye surgery than after second eye surgery. However, first eye surgery did not return all scores to age matched normal levels. There were significant improvements in several of the tests measured after second eye surgery, and all postoperative values were similar to those from age matched normals.
CONCLUSIONS—Significant improvements in clinical, functional, and perceived vision are obtained by cataract surgery. The improvements in objective measures of functional vision found in this study support previous findings of improvements in patients' perceived functional vision. In addition, these data provide support to the necessity of second eye surgery in some patients to improve certain aspects of visual function to age matched normal levels.
Technology to improve the clarity of video for home theater viewers is available utilizing a low cost enhancement chip (DigiVision DV1000). The impact of such a device on the preference for enhanced video was tested for people with impaired vision and normally sighted viewers. Viewers with impaired vision preferred the enhancement effects more than normally sighted viewers. Preference for enhancement was correlated with loss in contrast sensitivity and visual acuity. Preference increased with increased enhancement settings (designed for those with normal vision) in the group with vision impairments. This suggests that higher enhancement levels may be of even greater benefit, and a similar product could be designed to meet the needs of the large, growing population of elderly television viewers with impaired vision.
Loss of visual acuity caused by abnormal visual experience during development (amblyopia) is an untreatable pathology in adults. In some occasions, amblyopic patients loose vision in their better eye owing to accidents or illnesses. While this condition is relevant both for its clinical importance and because it represents a case in which binocular interactions in the visual cortex are suppressed, it has scarcely been studied in animal models. We investigated whether exposure to environmental enrichment (EE) is effective in triggering recovery of vision in adult amblyopic rats rendered monocular by optic nerve dissection in their normal eye. By employing both electrophysiological and behavioral assessments, we found a full recovery of visual acuity in enriched rats compared to controls reared in standard conditions. Moreover, we report that EE modulates the expression of GAD67 and BDNF. The non invasive nature of EE renders this paradigm promising for amblyopia therapy in adult monocular people.
Purpose. A transient painless monocular visual loss due to a decrease in retinal circulation—also known as “amaurosis fugax”—often precedes acute territorial cerebral ischaemia. The case we present underlines the importance of a comprehensive diagnostic workup in patients with amaurosis fugax. Case Report. A 44-year-old man who had suffered from a dissection of the ascending aorta (Stanford Type A) five months ago presented with recurrent monocular vision problems. Episodes with sectional vision loss mainly occurred in combination with low blood pressure levels. Furthermore, the haemoglobin level was chronically low (Hb 9.7 mg/dL), and the patient was by mistake on a simultaneous therapy with phenprocoumon and unfractionated heparin. Carotid artery duplex scanning revealed a high-grade stenosis of the proximal right common carotid artery. MR imaging corroborated hypoperfusion in brain area corresponding to the right MCA. Conclusion. Our patient is an example in whom transient retinal ischaemic attacks may originate from haemodynamic reasons.
PURPOSE: The purpose of this research is to study the vision development in monocular individuals so as to better understand normal binocular vision development and to refine the treatment of infants with infantile esotropia. METHODS: Thirty-six subjects with one clinically normal eye and one eye with no vision (no light perception or history of enucleation) are studied. In addition to measurement of standard parameters of development such as visual acuity, measurement of motion processing is made by both optokinetic and electrophysiologic techniques. A comparison is made of vision development among three populations: the monocular population, the normal population, and patients with a history of infantile esotropia. Such comparison is made to study the relative effects of interruption of binocularity and binocular competition. The monocular population represents individuals who have interruption of binocularity, whereas the infantile esotropia population has both interruption of binocularity and binocular competition. RESULTS: The OKN data suggest that the monucular population is more similar to the normal population than the esotropia population. The electrophysiologic data shows a statistically significant difference in the three populations. Motion processing is more fully developed in the monocular population than in the infantile esotropia population when compared to the normal population. CONCLUSIONS: 1. The development of motion processing appears to be particularly vulnerable to abnormal experience during the first year of life. 2. Monocular subjects have a less abnormal motion processing system when compared to patients with infantile esotropia even when monocularity is congenital. 3. The results indirectly support the premise that prealignment alternate occlusion is of benefit to the patient with infantile esotropia prior to realignment. 4. Development of the motion processing system does not necessarily parallel the development of other binocular functions.
The inter-subject variability of visual cortex reorganization was assessed in late-blind subjects suffering from retinitis pigmentosa (RP), a degenerative retinal disease that results in tunnel vision and eventual loss of sight. fMRI BOLD responses were measured as blindfolded RP and blindfolded sighted control groups completed a tactile discrimination task (in which subjects determined the relative roughness of sandpaper discs) during successive scans in a 3T Siemens scanner. Resulting activation patterns were compared between the two groups in a whole-brain analysis. We found that vision deprivation leads to elevated activation of the visual cortex elicited with tactile stimuli, and the degree of activation correlates with the degree of visual field loss: higher visual cortex activation is associated with greater vision loss. The location of vision loss in the visual field also correlates with the location of tactile responses in the visual cortex, with greater peripheral vision loss leading to stronger activation in the peripheral of V1. Visual cortex responses to tactile stimuli may hence be used as a diagnostic marker in determining the extent of an individual’s vision loss and tracking sight recovery following treatments.
With the aging of the population, the prevalence of eye diseases and thus of vision impairment is increasing. The TV watching habits of people with vision impairments are comparable to normally sighted people1, however their vision loss prevents them from fully benefiting from this medium. For over 20 years we have been developing video image-enhancement techniques designed to assist people with visual impairments, particularly those due to central retinal vision loss. A major difficulty in this endeavor is the lack of evaluation techniques to assess and compare the effectiveness of various enhancement methods. This paper reviews our approaches to image enhancement and the results we have obtained, with special emphasis on the difficulties encountered in the evaluation of the benefits of enhancement and the solutions we have developed to date.
Image quality; Video quality; preference; performance; low vision; visual impairment
Background and Aims: To examine the risk for cancer mortality among workers exposed to coal tar and coal tar pitch volatiles in a man-made graphite electrode factory. The risk for cancer mortality in this type of factory is still inconclusive, although coal tar and coal tar pitch are recognised as human carcinogens.
Methods: The study cohort consisted of 332 male employees who served more than five years in the period 1951–74. The cohort was traced until 1988. Analyses used standardised mortality ratios (SMRs) to compare cause specific mortality with that in the general and local population. Effect of smoking was estimated based on the information collected from the subgroup of the cohort. SMRs for leading causes of death were compared among different job titles, duration of employment, time since first employment, and observation subperiods. Exposure level for tar and benzo[a]pyrene (BaP) in the factory was also discussed, based on measurements done by other researchers in the past.
Results: During the study period, 52 deaths were identified (SMR 0.68), including 22 cancer deaths (SMR 1.01). The SMR for lung cancer was significantly increased in comparison with the general population (SMR 2.62). It was slightly decreased in comparison with the local population, but remained significant (SMR 2.35). Excess deaths were also observed for lymphatic and haematopoietic cancers (SMR 3.46). Smoking habits in the subgroup were similar to those in the general population; thus the increased SMR for lung cancer was unlikely to be explained by smoking.
Conclusion: Previous environmental measurements suggested that considerable exposure to tar and BaP had existed in the factory. The results suggest a possible risk for lung cancer among the cohort, but the limitations of the study, such as the small study population and insufficient information on exposure, indicate that further study is required.
Choriocarcinoma is a very rare cause of ocular metastasis. Only 18 male patients have been reported on, 4 of whom survived, but with significant loss of vision.
A 26-year-old Caucasian man, suffering from testicular choriocarcinoma with pulmonary, cerebral, renal, hepatic and osseous metastases, underwent left radical orchiectomy. While being treated with chemotherapy, he presented with loss of vision in the left eye. Ophthalmoscopy revealed bilateral non-pigmented, hemorrhagic choroidal tumours, compatible with secondary lesions. Continued chemotherapy and stereotactic radiotherapy of the skull and spine lead to full remission with excellent vision, after more than 4 years of follow up.
Testicular choriocarcinoma is an exceptional cause of choroidal metastasis, potentially asymptomatic and with specific clinical features. Radiotherapy can complement radical orchiectomy and chemotherapy, to achieve full remission and maintain good vision.
Amblyopia is the most common cause of visual impairment in children. Early detection of amblyopia and subsequent intervention are vital in preventing visual loss. Understanding the molecular pathogenesis of amblyopia would greatly facilitate development of therapeutic interventions. An animal model of amblyopia induced by monocular vision deprivation has been extensively studied in terms of anatomic and physiologic alterations that affect visual pathways. However, the molecular events underlying these changes are poorly understood. This study aimed to characterize changes of gene expression profiles in the lateral geniculate nucleus (LGN) associated with amblyopia induced by monocular visual deprivation.
Monocular vision deprivation was generated by either opaque dark contact lens or tarsorrhaphy of newborn rhesus monkeys. LGN was harvested at two or four months following induction of vision deprivation. Laser capture microdissection was used to obtain individual LGN layers for total RNA isolation. Linear T7-based in vitro RNA amplification was used to obtain sufficient RNA to conduct DNA microarray studies. The resulting Affymetrix GeneChip Expression data were analyzed using Affymetrix GeneChip Operating Software. Real-time quantitative polymerase chain reaction and in situ hybridization were used to further analyze expression of selected genes.
Using 52,699 microarray probe sets from a Rhesus array, we identified 116 transcripts differentially expressed between deprived and nondeprived parvocellular layers: 45 genes were downregulated and 71 genes were upregulated in deprived parvocellular layers. We also observed substantial changes in deprived magnocellular laminae: 74 transcripts exhibited altered expression, 42 genes were downregulated, and 32 genes were upregulated. The genes identified in this study are involved in many diverse processes, including binding (calcium ion binding, nucleic acid binding, and nucleotide binding), catalytic activity, and signal transducer activity.
There were significant differences in gene expression profiles between deprived and nondeprived parvocellular layers and magnocellular laminae of LGN. These alterations in gene expression may play a critical role in the molecular pathogenesis of amblyopia. The genes identified in this study may provide potential targets for therapeutic intervention of this disease.
Abnormal binocularity in association with poor spatial vision in one eye (amblyopia) is common in childhood. The reaching-and-grasping movement is impaired in children with these conditions, not only when viewing binocularly or with their amblyopic eye, but with the dominant eye, as well.
To investigate whether binocular information provides benefits for programming and guidance of reach-to-grasp movements in normal children and whether these eye–hand coordination skills are impaired in children with amblyopia and abnormal binocularity.
Reach-to-grasp performance of the preferred hand in binocular versus monocular (dominant or nondominant eye occluded) conditions to different objects (two sizes, three locations, and two to three repetitions) was quantified by using a 3D motion-capture system. The participants were 36 children (age, 5–11 years) and 11 adults who were normally sighted and 21 children (age, 4–8 years) who had strabismus and/or anisometropia. Movement kinematics and error rates were compared for each viewing condition within and between subject groups.
The youngest control subjects used a mainly programmed (ballistic) strategy and collided with the objects more often when viewing with only one eye, while older children progressively incorporated visual feedback to guide their reach and, eventually, their grasp, resulting in binocular advantages for both movement components resembling those of adult performance. Amblyopic children were the worst performers under all viewing conditions, even when using the dominant eye. They spent almost twice as long in the final approach to the objects and made many (1.5–3 times) more errors in reach direction and grip positioning than their normal counterparts, these impairments being most marked in those with the poorest binocularity, regardless of the severity or cause of their amblyopia.
The importance of binocular vision for eye–hand coordination normally increases with age and use of online movement guidance. Restoring binocularity in children with amblyopia may improve their poor hand action control.
Ocular complications of HIV-related cryptococcal meningitis are reasonably common, but complete binocular blindness as the first manifestation of HIV is extremely rare. A 58-year-old man presented with binocular blindness. He experienced blurred vision for 3 days before the blindness. Mild pleocytosis was present in the cerebrospinal fluid, from which Cryptococcus neoformans was cultured. Serology revealed positivity for HIV antibody. He was treated with antifungal and antiretroviral therapy. This case indicates that HIV-related cryptococcal meningitis should be taken into consideration when determining the cause of unexpected sudden binocular blindness.
HIV-related cryptococcal meningitis; Complete binocular blindness
Corneal damage associated with abuse of topical anesthetics is a rare clinic entity. Topical anesthetic abuse is one of the causes of ring keratitis. Ring keratitis is easily overlooked because it can mimic acanthamoeba keratitis or other infectious keratitis. The outcome is often poor, leading to persistent epithelial defects, corneal scarring, and perforations.
We report the clinical presentation, diagnosis, and treatment of a 65-year-old Caucasian man, who worked as a health care worker, with bilateral toxic keratopathy caused by topical anesthetic abuse. Nonpreserved amniotic membrane transplantation was performed for both eyes of the patient.
It is important to identify and treat patients who abuse topical anesthetics before permanent vision loss ensues. Nonpreserved amniotic membrane transplantation may be useful in relieving pain and improving corneal surface in anesthetic agent abusers.
We report here the characterization of a four-generation Han Chinese family with Leber’s hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III) to 14 years (generation IV), with the average of 18 years in this family. In addition, 30% and 50% of matrilineal relatives in generation III and IV of this family developed visual loss with a variability of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the homoplasmic ND4 G11778A mutation and 33 other variants, belonging to the Asian haplogroup D4. Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss. In fact, the G11696A mutation caused the substitution of an isoleucine for valine at amino acid position 313, located in a predicted transmembrane region of ND4. These imply that the G11696A mutation may act in synergy with the primary LHON-associated G11778A mutation in this Chinese pedigree.
vision loss; mitochondrial DNA mutation; penetrance; expressivity; haplotype
To assess the ability of patients with binocular 6/9 or 6/12 vision on the Snellen chart (Snellen acuity) to read a number plate at 20.5 m (the required standard for driving) and to determine how health professionals advise such patients about driving.
Prospective study of patients and postal questionnaire to healthcare professionals.
50 patients with 6/9 vision and 50 with 6/12 vision and 100 general practitioners, 100 optometrists or opticians, and 100 ophthalmologists.
Ophthalmology outpatient clinics in Sheffield.
Main outcome measures
Ability to read a number plate at 20.5 m and health professionals' advice about driving on the basis of visual acuity.
26% of patients with 6/9 vision failed the number plate test, and 34% with 6/12 vision passed it. Of the general practitioners advising patients with 6/9 vision, 76% said the patients could drive, 13% said they should not drive, and 11% were unsure. Of the general practitioners advising patients with 6/12 vision, 21% said the patients could drive, 54% said they should not drive, and 25% were unsure. The level of acuity at which optometrists, opticians, and ophthalmologists would advise drivers against driving ranged from 6/9−2 (ability to read all except two letters on the 6/9 line of the Snellen chart) to less than 6/18.
Snellen acuity is a poor predictor of an individual's ability to meet the required visual standard for driving. Patients with 6/9 vision or less should be warned that they may fail to meet this standard, but those with 6/12 vision should not be assumed to be below the standard.
A 36 year old white man was diagnosed as having Whipple's disease after a prolonged illness of lethargy, night sweats, and weight loss associated with lymphadenopathy and splenomegaly. Biopsy specimen of an inguinal lymph node confirmed the presence of periodic acid Schiff positive macrophages and culture gave a pure growth of Corynebacterium jeikeium. Twelve hours after the introduction of oral co-trimoxazole and streptomycin the patient's condition deteriorated. He became confused, feverish, and developed florid retinal vasculitis with associated visual impairment. Both the systemic symptoms and the retinal vasculitis responded to treatment with corticosteroids and his vision returned to normal. We think this was a Jarisch-Herxheimer reaction not previously described in Whipple's disease and advise inspection of the fundi of such patients before starting treatment.
Daily brief periods of unrestricted vision during early monocular form deprivation reduced the impact of amblyopia, and this preventive effect was most closely associated with reduced ocular dominance imbalance and binocular suppression in V2.
Providing brief daily periods of unrestricted vision during early monocular form deprivation reduces the depth of amblyopia. To gain insights into the neural basis of the beneficial effects of this treatment, the binocular and monocular response properties of neurons were quantitatively analyzed in visual area 2 (V2) of form-deprived macaque monkeys.
Beginning at 3 weeks of age, infant monkeys were deprived of clear vision in one eye for 12 hours every day until 21 weeks of age. They received daily periods of unrestricted vision for 0, 1, 2, or 4 hours during the form-deprivation period. After behavioral testing to measure the depth of the resulting amblyopia, microelectrode-recording experiments were conducted in V2.
The ocular dominance imbalance away from the affected eye was reduced in the experimental monkeys and was generally proportional to the reduction in the depth of amblyopia in individual monkeys. There were no interocular differences in the spatial properties of V2 neurons in any subject group. However, the binocular disparity sensitivity of V2 neurons was significantly higher and binocular suppression was lower in monkeys that had unrestricted vision.
The decrease in ocular dominance imbalance in V2 was the neuronal change most closely associated with the observed reduction in the depth of amblyopia. The results suggest that the degree to which extrastriate neurons can maintain functional connections with the deprived eye (i.e., reducing undersampling for the affected eye) is the most significant factor associated with the beneficial effects of brief periods of unrestricted vision.
A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symptoms of DIOA: reduced visual acuity, tritan defect, temporal pallor of both optic discs, and a relative central scotoma for white test spots. In visual evoked cortical potentials (VECP) the amplitudes were reduced, and in one patient the latencies were slightly delayed and two patients considerably so. The amplitude of the negative component of the PERG was markedly reduced, while the positive component was normal. In the remaining four family members normal retinal and cortical responses were recorded under standard conditions and visual fields and colour vision (FM 100 hue) were also normal. However, static perimetry with blue test spots showed in two family members enlarged central scotomas, thus proving that they had subclinical DIOA.