Biomedical subjects

Yozo Miyake

Publications and source records attributed to Yozo Miyake.

At least 37 records · Page 2Linked to original sources

PubMed2005

Bagolini striated glasses test and lesions of the optic chiasm.

PURPOSE: To examine the usefulness of the Bagolini Striated Glasses Test to identify patients with a lesion of the optic chiasm. SUBJECTS AND METHODS: Twelve patients who were diagnosed with a lesion of the optic chiasm by MRI were examined with the Bagolini Striated Glasses Test. Discrepancies of the test between monocular and binocular conditions were analyzed. Visual acuity, visual field and stereo tests were also administered and assessed. RESULTS: Nine out of 12 cases (75%) showed conflicting results with the Bagolini Striated Glasses Test between monocular and binocular conditions. With monocular testing, essentially normal stripes were observed in each eye. In binocular testing, stripes which were projected upon nasal retina were suppressed bilaterally (bitemporal hemianopia pattern) ("mountain pattern") or monocularly (monocular temporal hemianopia pattern). CONCLUSION: The Bagolini Striated Glasses Test can be used as a simple differential diagnostic test for lesions of the optic chiasm. The "mountain pattern" seen binocularly on this test may be pathognomonic for such lesions, which may otherwise be asymptomatic and/or overlooked.

Adenoma↗

PubMed2005

Similar etiologies of functional visual loss observed in children and adults.

BACKGROUND AND PURPOSE: To describe four cases of functional visual loss which challenge the theory that its causes are different in children and adults (i.e., that financial gain is the primary cause in adults while in children it is an involuntary response to psychosocial problems). Rather, we will show a similar etiology of functional visual loss in children and adults. We also describe diagnostic testing and therapeutic approaches that are useful in both children and adults with functional visual loss. SUBJECTS AND METHODS: Two children (5 and 15 years old) and two adults (54 and 73 years old) with presumed functional visual loss and whose visual functions were assessed with verbal assurance, Starlight Test, Flicker Test, and trial glasses or contact lenses. RESULTS: Normal visual function was elicited in all four cases. In both pediatric patients we were able to elicit normal vision using verbal assurance and trial glasses or contact lenses. In both adult patients, we elicited dramatic improvements in vision with verbal assurance and discussion of the patients' psychosocial situation. CONCLUSION: Children and adults present with similar etiologies (psychosocial problems) of functional visual loss. In these cases we believe the children were motivated by their desire to wear glasses or contacts and the adults were involuntarily responding to psychosocial problems. These cases show that we cannot, as has been proposed, clearly categorize patients with functional visual loss based upon age.

Adolescent↗

PubMed2004

Changes in foveal thickness and macular function after transpupillary thermotherapy for age-related macular degeneration.

PURPOSE: To evaluate the effect of transpupillary thermotherapy (TTT) on foveal thickness and macular function in eyes with choroidal neovascularization (CNV) associated with age-related macular degeneration. METHODS: Sixteen eyes with occult CNV and 6 eyes with classic CNV were treated with TTT. Optical coherence tomography and focal macular electroretinograms (FMERGs) elicited by a 15-degree stimulus were performed before, 3 months after TTT in 22 eyes and 6 months after TTT in 18 eyes. RESULTS: Before TTT, the fovea in 20 of the 22 eyes with CNV was significantly thicker than that of normal subjects. The foveal thickness was reduced after TTT in 11 of 14 eyes with occult CNV and remained unchanged in 2 eyes. One eye with occult CNV before TTT developed a classic CNV with significant macular edema and increased foveal thickness 3 months after TTT. The amplitudes of the FMERGs were reduced in all eyes before TTT. In eyes with occult CNV, the mean b-wave amplitude increased significantly after TTT (p = 0.0260 at 3 months, p = 0.0142 at 6 months). When the change of foveal thickness was less than 20% after TTT, all eyes with occult CNV had a 30% or more increase in the b-wave amplitude. In eyes with classic CNV, the mean amplitude of the a- and b-waves did not change significantly after TTT. CONCLUSIONS: TTT improves macular function in eyes with occult CNV associated with age-related macular degeneration more when the change of foveal thickness is slight.

Aged↗

PubMed2004

Effects of flanking genes on the phenotypes of mice deficient in basigin/CD147.

The induction of null mutations by means of homologous recombination is a powerful technique for clarifying the biological activities of target genes. However, the problems of the genetic background and flanking genes should be borne in mind. Here we employed a breeding strategy to compare three lines of mice deficient in the basigin (Bsg)/CD147 gene. The first line was F2 from F1 hybrid offspring of the 129/SV chimera and C57BL/6J. The second one was from a C57BL/6J congenic line. Both lines showed high embryonic lethality, sterility, and blindness. The third one was 'reverse F2' from 'reverse F1' hybrid offspring of the C57BL/6J congenic line and 129/SV. Surprisingly, this line showed a normal birth rate, while sterility and blindness persisted. Our results clearly separate the effects of the induced null mutation from those of flanking genes and the genetic background, and provide a useful means of investigating the biological functions of Bsg.

Animals↗

PubMed2004

Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.

OBJECTIVE: To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men. METHODS: Ophthalmologic examinations were performed, and the RDH5 gene was analyzed by direct genomic sequencing. RESULTS: Twin 23-year-old sisters with high myopic refractive errors of approximately -13 diopters were diagnosed as having fundus albipunctatus. Their photopic electroretinographic responses were markedly reduced, and cone dystrophy was diagnosed. One twin had macular degeneration with reduced best-corrected visual acuity, while the other twin had normal maculae with good visual acuity. A compound heterozygous mutation, Val132Met and Arg280His, in the RDH5 gene was found in both sisters. CONCLUSIONS: Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women. The clinical severity differed between monozygotic twins with fundus albipunctatus and cone dystrophy.Clinical Relevance The patient's sex is not critical for the presence of cone dystrophy in patients with fundus albipunctatus. The discordant findings in the twins indicate that factors other than genetics influenced the phenotype.

Adult↗

PubMed2004

Ultrastructure of internal limiting membrane removed during plasmin-assisted vitrectomy from eyes with diabetic macular edema.

PURPOSE: To study the effect of autologous plasmin enzyme (APE) on the adhesion of the vitreous cortex to the internal limiting membrane (ILM) in eyes with diabetic macular edema. DESIGN: Nonrandomized, comparative, interventional case series. PARTICIPANTS: Ten eyes of 10 patients with diabetic macular edema without a posterior vitreous detachment (PVD), which were treated with APE as an adjunct to conventional pars plana vitrectomy, and 10 eyes of 9 patients without a PVD, which underwent pars plana vitrectomy without APE, were studied. METHODS: In the APE group, 0.4 IU of APE was injected into the midvitreous cavity in 9 eyes, and 0.8 IU of APE in 1 eye. Thirty minutes after plasmin injection, the eyes underwent pars plana vitrectomy with ILM peeling. All eyes in the control group had conventional vitreous surgery with ILM peeling. The removed ILMs were investigated for the presence of vitreous and for ultrastructural differences by transmission and scanning electron microscopy. MAIN OUTCOME MEASURES: The status of the vitreous and induction of a PVD during surgery, and the presence of vitreous and ultrastructural differences of the removed ILM by transmission and scanning electron microscopy. RESULTS: In APE-treated eyes, the degree of liquefaction of the vitreous was graded as high in 4 eyes. Spontaneous PVD occurred in 2 eyes, whereas core vitrectomy with a maximum vacuum of 100 mmHg induced a PVD in 2 additional eyes. In the control group, 8 eyes required suction with a maximum of 200 mmHg to induce the PVD. Scanning electron micrography of the removed ILM in the APE-treated eyes showed a smooth surface on the vitreous side in 8 eyes and only sparse collagen fibers in 2 eyes. Conversely, in the control group, dense vitreous fibers were found in 4 eyes, sparse collagen fibrils in 3 eyes, and a smooth retinal surface in 3 eyes. CONCLUSIONS: These findings indicate that APE helps separate the vitreous hyaloid from the ILM surface and may be a useful adjunct to conventional vitreous surgery for diabetic macular edema.

Adult↗

PubMed2004

Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system.

PURPOSE: To determine the phenotype of 3 patients from 2 pedigrees with an unusual form of cone dystrophy in which the peripheral cone system is more affected than the central cone system, and whose rod system is relatively normal. DESIGN: Three observational case reports with electrophysiologic and psychophysical studies. METHODS: Three patients underwent fundus photography, fluorescein angiography, color vision testing, Goldmann visual field testing, full-field electroretinograms (ERGs), focal macular cone ERGs, and rod-cone perimetry, in addition to routine ophthalmologic examinations. Multifocal ERGs also were recorded from 2 patients. RESULTS: The fundus examination and fluorescein angiogram results essentially were normal except for a mild temporal pallor of the optic disc in 2 patients. The corrected visual acuity ranged from 20/16 to 20/100. Color vision was normal in 1 patient, but was abnormal in 2 patients. A relative paracentral scotoma was detected in 2 patients. Full-field ERG cone responses were reduced significantly, but rod responses were normal in all patients, as in patients with typical cone dystrophy. However, the focal macular cone ERGs were well preserved in all patients. Psychophysical rod-cone perimetry demonstrated that the peripheral cone system was impaired, whereas the rod sensitivity was completely normal. The results of the multifocal ERG in 2 patients supported the findings made by the full-field and focal macular ERGs. CONCLUSIONS: These findings demonstrate that there is a subgroup of patients with cone dystrophy where the peripheral cone system is more affected than the central cone system.

Adult↗

PubMed2004

Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.

PURPOSE: Only 2 mutations in the arrestin gene have been previously reported to be associated with Oguchi's disease, a homozygous Asn309(1-bp del) mutation in Japanese families and a homozygous Arg193stop mutation in an Indian family. The aim of this article is to report 2 novel mutations in the arrestin gene in 2 Japanese patients with Oguchi's disease and to describe the clinical features with the mutations. DESIGN: Molecular genetic study and observational case report. PARTICIPANTS: Two unrelated Japanese patients with Oguchi's disease associated with novel arrestin mutations. METHODS: Genomic DNA was extracted from leukocytes of the peripheral blood, and exons 2 through 16 of the arrestin gene were amplified by polymerase chain reaction and directly sequenced. A complete ophthalmologic examination was performed, including best-corrected visual acuity, slit-lamp and fundus examinations, fundus photography, and electroretinography (ERG). MAIN OUTCOME MEASURES: Direct sequencing of the arrestin gene, evaluation of visual acuity, refraction, and ERG. RESULTS: Three arrestin gene mutations were identified in 2 patients. A compound heterozygous mutation, Arg175stop and Asn309(1-bp del), was identified in 1 patient with Oguchi's disease. The former mutation has not been reported, whereas the latter is known to be a frequent mutation in Oguchi's disease in Japanese families. In a second patient, another novel mutation was detected in the gene, a homozygous Arg292stop mutation. Both patients demonstrated characteristic features of Oguchi's disease, including night blindness, golden-yellow discoloration of the retina, absent rod ERG response, and "negative" type bright-flash ERG after 30 minutes of dark adaptation. CONCLUSIONS: The existence of 2 novel mutations of the arrestin gene in 2 unrelated Japanese patients strongly supports the previous data that arrestin gene mutations are associated with Oguchi's disease. All of the mutations in the arrestin gene that have been identified in Oguchi's disease are null mutations, indicating that only critical gene defects in the arrestin gene are associated with Oguchi's disease.

Adult↗

PubMed2004

The relationship between intraocular pressure and refractive error adjusting for age and central corneal thickness.

PURPOSE: To investigate the relationship between intraocular pressure (IOP) and refractive errors after adjusting for age, central corneal thickness (CCT), and other related factors. METHODS: IOP, CCT and refractive errors were measured in the right eyes of 1855 subjects, aged 40-82 years, in a cross-sectional study design. Subjects were divided into groups by refractive status: hyperopia, emmetropia, mild myopia, moderate myopia, or high myopia. With adjustments for age, CCT, blood pressure, obesity, education, hypertension, diabetes, and smoking status, IOP was estimated for each refractive status using a general linear model. RESULTS: IOP increased with advancing degrees of myopia, even after adjustment for age, CCT, and other related factors (p = 0.011). Estimated IOP of moderate myopia was significantly higher than that of emmetropia (p = 0.022). CONCLUSIONS: Our results confirm the positive association between IOP and increasing degrees of myopia. This finding would support the hypothesis that the relationship between glaucoma and myopia might be pressure mediated.

Adult↗

PubMed2004

Changes in focal macular ERGs after macular translocation surgery with 360 degrees retinotomy.

PURPOSE: To evaluate the short- and long-term changes of focal macular electroretinograms (fmERGs) after macular translocation with 360 degrees retinotomy. METHODS: This was a retrospective study. fmERGs were recorded in 19 eyes of 19 consecutive patients who underwent macular translocation with 360 degrees retinotomy for choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD; 17 eyes) or polypoidal choroidal vasculopathy (2 eyes). The changes in the fmERGs, recorded before, shortly after (6-12 months; mean 8.3 months), and more than 18 months (18-30 months; mean 22.4 months) after surgery from 12 eyes, were analyzed. A 15 degrees stimulus centered on the fovea was used to elicit the fmERGs. RESULTS: The mean logarithm of minimum angle of resolution (logMAR) was 1.06 +/- 0.07 (20/230) before surgery, 0.78 +/- 0.08 (20/121) early after surgery (n = 19), and 0.64 +/- 0.07 (20/87) late after surgery (n = 12). These improvements in visual acuity were significant (P = 0.0074, P = 0.0050, respectively). Before surgery, the amplitudes of all components of the fmERGs were markedly reduced in all eyes. The mean b-wave amplitude in 17 AMD eyes recorded early after surgery was significantly larger (P = 0.0262), and the mean a-wave amplitude was also increased but not significantly (P = 0.1180). The mean amplitudes of the a- and b-waves in 10 AMD eyes recorded after 18 months were significantly larger than those before the surgery (P = 0.0218, and P = 0.0284). The mean implicit time of the b-wave in 17 AMD eyes decreased early after surgery, and a further decrease was detected at the later testing time. CONCLUSIONS: These results indicate that macular function is partially recoverable after macular translocation in some patients.

Aged↗

PubMed2004

Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.

PURPOSE: All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD. The clinical features associated with this mutation were described. METHODS: Blood samples were collected from 27 patients with cone-rod or cone dystrophies and from 11 patients with macular dystrophy. Genomic DNA was extracted from peripheral leukocytes. All 18 coding exons of the GUCY2D gene were directly sequenced. The PCR product carrying a novel mutation was subcloned, and each allele was sequenced. A complete ophthalmologic examination was performed in members of the family with the novel mutation. RESULTS: A novel heterozygous complex missense mutation of T2817C and G2822C that would predict I915T and G917R amino acid substitutions, respectively, was found in an autosomal dominant CORD family. The two nucleotide changes were located on the same allele, and segregated with the disease. Two other known missense mutations of R838H and R838C were found in two other CORD families. The clinical phenotype associated with the novel mutation was similar to that with the Arg838 mutations. CONCLUSIONS: A heterozygous complex mutation of I915T and G917R in the GUCY2D gene caused autosomal dominant CORD, indicating that a heterozygous mutation that does not include a codon 838 substitution can lead to this ocular phenotype.

Adult↗

PubMed2004

Delayed regeneration of foveal cone photopigments in Vogt-Koyanagi-Harada disease at the convalescent stage.

PURPOSE: To evaluate the physiological characteristics of the macula in patients with Vogt-Koyanagi-Harada disease during the convalescent stage with specific reference to the kinetics of foveal cone photopigment regeneration. METHODS: Six eyes of three patients at the convalescent stage of Vogt-Koyanagi-Harada disease were studied. All the eyes had best corrected visual acuity of 1.0 or better and had had no recurrence of inflammation for at least 12 months after the last episode. Foveal cone densitometry (FCD), focal macular electroretinograms, color vision tests, two-color perimetry, and optical coherence tomography (OCT) were performed. RESULTS: No regeneration of cone photopigments was detected within the 7-minute testing time by FCD in all eyes at the first examination after the last episode. However, the other functional tests were normal, and the OCT-determined macular morphology was also normal. The regeneration kinetics of the foveal cone photopigment improved in three of six eyes at 36, 37, and 19 months after the last episode, whereas the other three remained delayed at 18, 18, and 49 months. CONCLUSIONS: These findings suggest that a disorder of the foveal cone photopigment regeneration, and its recovery, requires a significantly longer time than that of other macular functions in some patients with Vogt-Koyanagi-Harada disease.

Adult↗

PubMed2004

Luminance dependence of neural components that underlies the primate photopic electroretinogram.

PURPOSE: At lower stimulus intensities, the amplitude of the photopic flash ERG b-wave increases with increasing stimulus intensities, but then plateaus and decreases at higher stimulus intensities (the "photopic hill"). The purpose of this study was to determine the mechanism underlying this unusual phenomenon. METHODS: Five adult monkeys (Macaca mulatta and M. fascicularis) were studied. Stimuli were obtained from xenon strobe flashes, and the intensity was reduced by neutral-density filters in 0.4-log unit steps. N-methyl-D-aspartic acid and tetrodotoxin citrate (NMDA+TTX) were used to suppress inner retinal activities and L-2 amino-4-phosphonobutyric acid (APB) and cis-2,3 piperidine dicarboxylic acid (PDA) to block postreceptoral ON- and OFF-pathway activities. The postsynaptic ON- and OFF-components were isolated by subtracting the postdrug ERGs from the predrug ERGs. RESULTS: The intensity-response curve of the photopic b-wave obtained after the intravitreal injection of TTX+NMDA had the same shape as a photopic hill, suggesting that the contribution from the inner retinal neurons to the photopic hill is not significant. At low and intermediate intensities, the photopic b-wave was mainly shaped by the overlapping of two positive peaks from the ON- and OFF-components. However, the amplitude of the positive peak from the ON-component became smaller and broader at higher stimulus intensities. In addition, the timing of the positive peak of the OFF-component was gradually delayed with increasing intensities. After APB+PDA, the remaining cone photoreceptor component contributed only to the negative a-wave at all stimulus intensities. CONCLUSIONS: The photopic hill in the primate ERG results mainly from two factors: the reduction of the ON-component amplitude at higher intensities and the delay in the positive peak of the OFF-component at higher intensities.

Adult↗

PubMed2004

The remnants of crossed fixation observed in teenaged children with esotropia.

PURPOSE: To report 2 cases of teenage children with esotropia from a much earlier age, displaying remnants of crossed fixation with special reference to Helmholtz's theory that each eye is controlled independently and Hering's Law of equal innervation. CASE REPORTS: Case 1 had paretic and partially accommodative esotropia that was first observed at 11 months of age; and Case 2 had accommodative esotropia with an onset at age 3 years. Both cases had hypermetropia and good corrected visual acuity in both eyes. They were able to fixate independently with each eye but the dominant eye always controls their fixation and they believe they are using only their dominant eye; however, their non-dominant eye was used to viewing objects in the opposite field (crossed fixation). Both cases maintained good binocular alignment at distance with either surgery and glasses (Case 1) or glasses alone (Case 2). However, their esotropia increased through the early teenage years leading both patients to undergo surgery at this later age: Case 1 at 17 years of age and Case 2 at 19 years of age. Post-surgical Starlight testing showed that their binocular visual fields improved. CONCLUSION: Crossed fixation exists in esotropia (even in acquired accommodative esotropia) and as the patient ages, one eye becomes dominant leaving the non-dominant eye to fix only in crossed gaze. These cases support Helmholtz's theory that each eye is controlled independently and that binocular coordination is learned.

Accommodation, Ocular↗

PubMed2004

Dynamic aniseikonia measurement: prismatic effect appears on the hess chart.

PURPOSE: To determine if aniseikonia appears on the Hess [Screen] Chart and if it can be measured thereby; and to compare such measurement to the standard Awaya New Aniseikonia Test in both artificial and pathologic aniseikonia. SUBJECTS AND METHODS: Twenty normal subjects with 20% artificial induced aniseikonia (Group 1) and 21 patients with pathologic aniseikonia (Group 2) were examined with the New Aniseikonia Test (NAT) and the Hess Chart. Group 2 was divided into three subgroups: Group 2-1, 13 patients with aphakia, whose operated eyes were more hypermetropic that their better eyes; Group 2-2, 3 patients with myopic anisometropia more than 5 diopters; and Group 2-3, 5 patients who had received macular translocation surgery (MTS). RESULTS: In normals, measurement of the 20% artificial aniseikonia ranged from 10% to 21% (mean 15%) using the NAT, and from 16% to 39% (mean 27.1% vertically and 24.6% horizontally) using the Hess Chart. In the 21 patients with pathologic aniseikonia, the NAT measurements ranged from 0% to 24% (upper limit of the NAT) and the Hess Chart measurements ranged from 0% to 65%. A large amount of the aniseikonia that appeared on the Hess Chart disappeared or was significantly reduced by changing the spectacle correction to a contact lens or intraocular lens. CONCLUSION: The aniseikonia that appeared on the Hess Chart was dynamic aniseikonia, due to rotational magnification inherent and unavoidable in the execution of the aniseikonia measurement on the Hess Chart. Aniseikonia, not due to refractive errors brought on by retinal surgery such as MTS, is difficult to correct with iseikonic lenses or other optical means.

Adolescent↗

PubMed2004

[Molecular genetic study of congenital stationary night blindness].

PURPOSE: Molecular genetic study was conducted on patients with fundus albipunctatus, incomplete and complete types of congenital stationary night blindness(CSNB), and Oguchi disease. RESULTS: Mutations in the RDH5 gene were identified in all 10 patients with typical clinical features of fundus albipunctatus. Mutations in the gene were also detected in patients with fundus albipunctatus associated with cone dystrophy, and it was supposed that mutations of the gene cause progressive retinal dystrophy as well as fundus albipunctatus. Mutations in the CACNA1F gene were identified in all 15 patients with typical clinical features of incomplete CSNB. We found that some cases with incomplete CSNB were associated with retinal degeneration or optic atrophy with progressive impairment of vision. We detected mutations in the NYX gene in about half of the cases with complete CSNB. Molecular examination was useful to determine the exact hereditary pattern. We examined the arrestin gene and the rhodopsin kinase gene in 5 unrelated patients with Oguchi disease, and found arrestin gene mutations in 4 of them and a rhodopsin kinase gene mutation in the fifth patient. CONCLUSIONS: We confirmed that fundus albipunctatus, incomplete CSNB, complete CSNB, and Oguchi disease were associated with mutations in the RDH5, CACNA1F, NYX, arrestin or rhodopsin kinase genes, respectively, in Japanese patients. Molecular analysis made it possible to diagnose patients with atypical phenotype and to obtain novel information about phenotypic variation.

Adolescent↗

PubMed2003

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.

OBJECTIVE: To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB). METHODS: We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicroscopy, ophthalmoscopy, fundus photography, and electroretinography. Genomic DNA was extracted from the peripheral blood, and all 48 exons of the CACNA1F gene were directly sequenced. RESULTS: The 2 brothers had retinal and optic disc atrophy and a progressive reduction of visual acuity with increasing age. Although these clinical features are not typical of previous patients with incomplete CSNB, both patients had an in-frame mutation with deletion and insertion in exon 4 of the CACNA1F gene. In both patients, the bright-flash, mixed rod-cone electroretinogram had a negative configuration, a characteristic of incomplete CSNB. However, the full-field scotopic and photopic electroretinograms were nonrecordable, indicating severe, diffuse retinal malfunction, which is not typical in incomplete CSNB. CONCLUSION: These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function. Clinical Relevance In patients with retinal and optic disc atrophy associated with negative-type electroretinograms, a CACNA1F gene mutation should be considered.

Amino Acid Sequence↗

PubMed2003

Mapping posterior vitreous detachment by optical coherence tomography in eyes with idiopathic macular hole.

PURPOSE: To determine the relationship between posterior vitreous detachment and idiopathic macular hole. DESIGN: Observational case series. METHODS: In a prospective study, the posterior hyaloid face was scanned from the posterior pole to the far periphery by optical coherence tomography in 25 eyes (22 patients) with an idiopathic macular hole (stage 1 = 1, stage 2 = 7, stage 3 = 10, and stage 4 = 7), and a map of the posterior vitreous detachment was constructed. RESULTS: One eye with a stage 1 macular hole had a posterior vitreous detachment confined to the vascular arcade, but attached to the fovea. In all seven eyes at stage 2, the detached posterior hyaloid enlarged upward beyond the superior vascular arcade, but stopped at the margin of inferior vascular arcade. In two cases, the posterior vitreous detachment also extended temporally and superonasally. In all cases, the vitreous face remained attached to the fovea. Six of the 10 eyes at stage 3 had larger partial posterior vitreous detachment that extended not only upward, but also beyond the inferior vascular arcade, while in the other four eyes, the size and position of the posterior vitreous detachment was similar to stage 2 macular holes. However, unlike stage 2, the posterior vitreous detachment included the fovea in all eyes. All seven eyes with a stage 4 macular hole had complete posterior vitreous detachment that extended to the far periphery in all directions. CONCLUSION: There is a close correlation between the stage of the macular hole and the degree of posterior vitreous detachment. This close correlation suggests that progression of idiopathic macular hole is related to enlargement of the posterior vitreous detachment.

Aged↗