1/215. 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.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/215. 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.- - - - - - - - - - ranking = 1.8keywords = dystrophy (Clic here for more details about this article) |
3/215. 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.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
4/215. 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.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
5/215. 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.- - - - - - - - - - ranking = 0.0026974158452825keywords = ocular (Clic here for more details about this article) |
6/215. 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.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
7/215. Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.We present a family with four children born to second-cousin parents. Two of the children had myoclonic epilepsy, congenital deafness, a dystrophic pattern of the macular pigment epithelium, incomplete right bundle branch block, and psychiatric disorders appearing after fever episodes. Results of all laboratory investigations including mitochondrial dna analysis were normal. Despite the fact that this condition resembles one reported by Latham and Munro in 1937, it is possible that we might be reporting on a new autosomal recessive syndrome.- - - - - - - - - - ranking = 0.8keywords = dystrophy (Clic here for more details about this article) |
8/215. Progressive cone dystrophies.patients with progressive generalized cone dystrophy often present nystagmus (or strabism) and complain of photophobia, decrease in visual acuity or disturbances in colour perception. The most classic fundus abnormality is the bull's eye maculopathy or a pallor of the optic disc. Minimal macular changes are sometimes seen, which may progress to a bull's eye type of macular degeneration. The photopic ERG is always very affected, whereas at first the scotopic ERG seems normal. Progressive deterioration of the visual functions is accompanied by increasing fundus lesions and rod involvement, as suggested by the modifications of the dark adaptation curve and the scotopic ERG. However, the progression of typical generalized cone dysfunction is very slow. On the contrary, in some cases of so-called Stargardt's disease with peripheral participation, a very rapid progression has been observed. In such cases a normal ERG does not necessarily mean that the disease will remain localized to the macular area. No definite prognosis can be made on one single ERG. In 3 cases with sector pigmentary retinopathy the photopic ERG was more affected than the scotopic ERG. However, these cases are probably primary cone-rod dystrophies. Although there is no electrophysiological control, our clinical impression is that the evolution, if possible, is very slow.- - - - - - - - - - ranking = 0.2keywords = dystrophy (Clic here for more details about this article) |
9/215. Sorsby's fundus dystrophy in two Japanese families with unusual clinical features.PURPOSE: To describe two Japanese families with Sorsby's fundus dystrophy (SFD) with unusual clinical features. methods: Two families from Kagoshima Prefecture with senile-onset macular dystrophy were examined. Three affected individuals through three successive generations of one family and three affected siblings in another family were examined and followed. RESULTS: The initial symptom of these patients was a rapid or slow central visual loss that occurred at an average age of 67.4 years. The major ophthalmoscopic changes consisted of soft drusen and hemorrhagic or atrophic lesions in the macula, which were progressive and ultimately led to disciform scarring. They had no difficulty with night vision. All the patients had normal peripheral retina with intact peripheral fields. They maintained good ambulatory vision and could walk unguided until late in life. These patients had a novel mutation in the tissue inhibitor of the metalloproteinases-3 (TIMP3) gene. CONCLUSIONS: This is the first report of SFD from the East. Its clinical features differ from those of SFD patients of the West, appearing closer to features of age-related macular degeneration. These two unrelated Japanese families with an identical mutation in the TIMP3 gene might be descendants of a common ancestor who carried the mutant gene.- - - - - - - - - - ranking = 1.2keywords = dystrophy (Clic here for more details about this article) |
10/215. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.PURPOSE: To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case. methods: All family members underwent ophthalmologic examination and genetic testing by single strand conformation polymorphism analysis and direct sequencing of the VMD2 gene. RESULTS: A single T to G transition at nucleotide 663 was identified in one of the VMD2 gene copies of the patient, which results in a Cys to Trp substitution at position 221 in the corresponding protein (C221W). sequence analysis of the VMD2 exon 6 of both parents of the patient did not reveal any mutation. CONCLUSION: These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.- - - - - - - - - - ranking = 1.2keywords = dystrophy (Clic here for more details about this article) |
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