1/513. Human psychophysical analysis of receptive field-like properties: V. Adaptation of stationary and moving windmill target characteristics to clinical populations. This paper describes the application of several key parameters of a windmill-shaped target (used in determinations of the psychophysical transient-like function) to clinical populations as a diagnostic tool for static perimetry. A technique for independently analyzing sustained- (Westheimer function) and transient-like retinally-based psychophysical responses is outlined, and stimulus characteristics, reliability and diagnostic potential of the tests are examined. Several particularly interesting clinical cases (one closure of a branch retinal arteriole) and two senile macular degeneration patients) are presented for illustrative purposes. In addition, a tentative 'working hypothesis' is presented as a basis for extensive future analysis of various clinical populations. ( info) |
2/513. Successful treatment of acute subretinal hemorrhage in age-related macular degeneration by combined intravitreal injection of recombinant tissue plasminogen activator and gas. Subretinal hemorrhage secondary to age-related macular degeneration (AMD) has a poor visual prognosis. Surgical drainage of the blood improves visual acuity only in selected patients. We report on two elderly patients with spontaneous subretinal hemorrhage from AMD. In one eye, recombinant tissue plasminogen activator (rTPA), combined with a long-acting gas (SF6), was injected into the vitreous cavity. The other eye was treated first by gas instillation followed 3 days later by rTPA injection. Both treatments led to nearly complete displacement of the subretinal hemorrhage from the macular region. In both eyes, an inferior exudative retinal detachment reabsorbed spontaneously within 2 weeks. Bilateral vitreous opacities after rTPA injection resolved without further treatment. Postoperative visual acuity increased to 0.3 and 0.4. The combined treatment is a valuable method for management of acute subretinal hemorrhage. Rapid displacement of this abnormality can minimize clot-induced damage of the highly sensitive macula and increase visual acuity. ( info) |
3/513. Familial macular cone dystrophy: diagnostic value of multifocal ERG and two-color threshold perimetry. BACKGROUND: It is difficult to detect receptor dysfunction in patients with marked bilateral visual loss but only mild morphological alterations of the fundus. methods: Two patients, father and son, with visual acuity loss to 20/100 were examined. Using the multifocal ERG, 61 local cone ERGs from each eye were derived from the central visual field. The dark-adapted two-color threshold perimetry using stimuli of 500 nm and 656 nm for rod and cone function was investigated along the horizontal meridian of the visual field. RESULTS: In the multifocal ERG of both patients a macular response was absent. From eccentricity at and anterior to 5 degrees, good multifocal cone activity was recorded. Cone thresholds were markedly diminished in the macula. The rod thresholds were borderline in the father and normal in the son. CONCLUSIONS: Multifocal ERG is a novel technique, very well suited to reveal the topography of cone function. Using two-color threshold perimetry affords an opportunity to differentiate between rod and cone functional defects. Both together helped to establish the diagnosis of macular cone dystrophy in the present family. ( info) |
4/513. Fluorescein angiographic abnormalities after prophylactic macular photocoagulation for high-risk age-related maculopathy. PURPOSE: Initial studies suggest that drusen associated with age-related maculopathy resolve in response to laser photocoagulation; there are conflicting reports regarding whether this treatment might prevent neovascular complications and blindness. The goal of the Drusen Laser Study is to maintain good visual acuity in eyes at the highest risk for neovascular complications of age-related maculopathy. In this report, we alert the ophthalmic community to possible laser-induced complications in patients treated within the context of this clinical trial. methods: A double-masked, randomized, controlled clinical trial of prophylactic macular photocoagulation for high-risk age-related maculopathy is in progress. patients randomly assigned to treatment received a ring-type distribution of 12 light spots of argon laser photocoagulation. Drusen were treated directly only if they were present at the protocol treatment locations. fluorescein angiography was performed in all patients at yearly review, and at nonprotocol visits if symptoms or clinical examination were suggestive of choroidal neovascularization. RESULTS: Fluorescein angiographic abnormalities suggestive of choroidal neovascularization have been seen in treated eyes only: one patient in the pilot study and six patients in the Drusen Laser Study. No fluorescein angiographic abnormalities were seen in eyes of control subjects. CONCLUSIONS: Laser photocoagulation in high-risk age-related maculopathy may induce choroidal neovascularization and, therefore, is not recommended outside the context of a randomized, controlled clinical trial. ( info) |
5/513. Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. PURPOSE: Five families with dominantly inherited macular dystrophy were originally described by Sorsby et al. in 1949. Key features include early bilateral central visual loss secondary to either choroidal neovascularisation or central geographical atrophy and late progressive chorioretinal atrophy. We report a member of one of the original families who has been studied with a series of investigations over a long time, providing important information on differences in the phenotype and natural history of a rare genetically determined macular dystrophy. methods: The patient has been followed up for the last 24 years, from asymptomatic to full manifestation of Sorsby's fundus dystrophy. Series of fundus photographs, colour vision, dark adaptation and electrodiagnostic tests were performed. The disease was also studied with fundus fluorescein angiography and indocyanine green angiography. RESULTS: Unlike her other family members, who were reported in other studies as all having rapid loss of vision secondary to disciform macular disease, our patient has a unique clinical course in that she has a progressive bilateral central and generalised chorioretinal atrophy with a well-preserved minute central island of fovea. Nyctalopia was her early and only symptom. There was evidence of central scotoma, tritanopia and mild abnormality in dark adaptation. Rod function was affected earlier and to a larger degree than cone function. CONCLUSIONS: The overall features suggest phenotypic variability within a family in this autosomal dominant macular dystrophy. The findings from indocyanine green angiography and a consecutive series of electrodiagnostic tests in this condition support the theory of partial choroidal hypoperfusion and an interesting progressive rod-cone dystrophy as part of the pathophysiology. ( info) |
6/513. Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren). Muscle biopsy tissue from a patient affected by the juvenile form of neuronal ceroid lipofuscinosis (NCL) was studied immunohistochemically using antibodies to beta-amyloid peptide and amyloid precursor protein. Positive reaction in muscle was specifically localized to autophagic vacuoles and blood vessel walls. Increased acid phosphatase reaction suggested enhanced lysosomal activity. We hypothesize that beta-amyloid is deposited in NCL muscle by a lysosomal mechanism similar to that proposed in other disorders involving beta-amyloid. ( info) |
7/513. EEM syndrome: report of a family and results of a ten-year follow-up. We report on a Brazilian kindred in which two sibs presented with the complete form of EEM (ectodermal dysplasia, ectrodactyly, and macular dystrophy) syndrome with hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina. In this family, we also observed another sib with syndactyly, as well as a first cousin with ectrodactyly. A 10-year follow-up demonstrated gradually decreasing visual acuity and progression of retinal degenerative anomalies. ( info) |
8/513. Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. X-linked juvenile retinoschisis is a form of vitreoretinal dystrophy that is characterized by foveal and peripheral splitting of the retinal nerve fiber layer. Pathognomonic of this disorder is a microcystic radiate appearance in the fovea. We encountered a 10 year-old, mildly retarded, Japanese boy, who exhibited a widely extended macular retinoschisis bilaterally. A break in the inner layer of the left eye mimicked a lamellar macular hole, which is a rare manifestation of the disease. Peripheral retinoschisis was absent. Only a few reports have described marked bilateral macular retinoschisis that involved entire posterior pole, while various other macular findings have been reported. This patient with a severe form of retinoschisis was found to harbor the deletion of 33 base pairs, including the boundary region of exon 3 and intron 3 in the XLRS1 gene. ( info) |
9/513. ARMD--pilot (case series) environmental intervention data. BACKGROUND: A description and justification for using a standardized clinical low-cost, "low-technology," ocular and systemic "ARMD work-up" protocol was presented in the methods paper (Part I). methods: Fourteen male patients (70 /- 9 years), receiving 0.73 /- 0.45 portions of dark-green, leafy vegetables/day base intake, were placed on an additional portion of 5 ounces sauted spinach 4 to 7 times per week or lutein-based antioxidant (three patients). Detailed "ARMD work-up" data for six of these patients and summary pilot (case series) environmental intervention data are presented. RESULTS: One, patients demonstrated short-term positive effects in visual function in one or both eyes with this mild therapeutic approach: Amsler grid (87%); Snellen Acuity (71%); contrast sensitivity (92%); SKILL (65%); glare recovery (69%); and Activities of Daily Vision Subscale (60%); Two, There was no obvious correlation between ophthalmoscopic appearance of the retina and visual outcome; and Three, Patient symptoms did not necessarily correlate with observed changes in visual function. CONCLUSIONS: The approach to atrophic ARMD presented here warrants informal practitioner replication and formal randomized prospective clinical case-control evaluation. ( info) |
10/513. prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. OBJECTIVE: To evaluate the prevalence of macular pattern dystrophy (MPD) in maternally inherited diabetes and deafness (MIDD), a new subtype of diabetes mellitus that cosegregates with a mutation of mitochondrial dna (i.e., the substitution of guanine for adenine at position 3243 of leucine transfer rna) and to report the clinical characteristics of MPD. DESIGN: Prospective cohort study. PARTICIPANTS: Forty-six patients from 29 families with an adenine-to-guanine mutation of mitochondrial dna were recruited from a French collaborative multicenter study. Thirty-five patients had MIDD, 8 were asymptomatic children of MIDD patients, and 3 had melas syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes). The 33 MIDD patients with diabetes were matched for diabetes duration and gender with 33 patients with "common" type-2 diabetes to compare the prevalence of diabetic retinopathy (DR) in both series. methods: All patients had a full ophthalmologic examination and fundus photographs. MAIN OUTCOME MEASURES: The presence and severity of MPD and DR were assessed in each patient. RESULTS: Thirty MIDD patients (85.7%) of 35 exhibited bilateral MPD characterized by linear pigmentation surrounding the macula and optic disc. In 24 of these 30 patients, visual acuity was 20/25 or more in both eyes. The prevalence of DR was 6% in MIDD patients with diabetes versus 15% for patients with common type-2 diabetes (a difference that was not significant, P = 0.23). The fundus of each of the eight asymptomatic children was normal. MPD was present in one of the three cases of MELAS. CONCLUSION: The prevalence of MPD in MIDD is high. Its detection may be helpful for the diagnosis of this new subtype of diabetes, for which specific treatments may be proposed. ( info) |