Bilateral Fundus Research Articles

Case-control study of the risk factors for age related macular degeneration

AIMA case-control study was initiated to determine the risk factors for the development of age related macular degeneration (AMD).METHODSStudy participants, who were all white, aged 50–85 years, and were recruited...

Choroidal neovascularization as a late complication of hyperparathyroidism

PURPOSE: To report choroidal neovascularization in a patient with sclerochoroidal calcification secondary to hyperparathyroidism. METHOD: Case report. Bilateral ocular fundus abnormalities observed in a 74-year-old woman were documented with fluorescein angiography and ultrasonography. RESULTS: Two yellow, irregular, oval placoid lesions were observed in the fundus of each eye. Ultrasound examination showed that these areas were extremely sonoreflective and exhibited orbital shadowing. In the left eye, one lesion was accompanied by lipid exudates, and subsequent fluorescein angiography disclosed choroidal neovascularization. Medical history included hyperparathyroidism treated with surgical excision of a parathyroid adenoma 27 years earlier. CONCLUSION: Choroidal neovascularization may be a late complication of hyperparathyroidism.

Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.

To report the identification of two novel RDS mutations in the peripherin/RDS gene of two unrelated French patients affected by autosomal dominant retinitis pigmentosa (ADRP). Fifty-eight unrelated patients affected by ADRP were analyzed. Our diagnostic for RP were bilateral fundus involvement, concentric depression of the visual field and severe involvement on electroretinogram. Transmission of the trait was unambiguous. Our strategy was to analyze the coding sequence of the gene using a combination of single-strand conformation polymorphism (SSCP) and direct sequence analysis of the exons of the gene. Exons that displayed conformational polymorphisms were sequenced on an automated DNA sequencer. The sequence analyses revealed two previously unreported missense mutations: Cys165Tyr and Phe211Leu in exons 1 and 2, respectively. None of the 70 controls analyzed carried these base changes. Cosegregation of the base substitution with the disease could be tested in both families presenting the Cys165Tyr and Phe211Leu mutations. Several lines of evidence support the idea that these base substitutions are disease-causing mutations. To the best of our knowledge, no peripherin/RDS gene analysis has been previously reported in ADRP in France.

Acute posterior multifocal placoid pigment epitheliopathy with corneal stromal infiltrates

To report the association of perilimbal corneal stromal infiltrates with acute posterior multifocal placoid pigment epitheliopathy. Case report. A 29-year-old woman with bilateral fundus lesions typical of acute posterior multifocal placoid pigment epitheliopathy presented with peripheral corneal stromal infiltrates that resolved with fundus lesions. Corneal stromal infiltrates may be associated with characteristic fundus lesions of acute posterior multifocal placoid pigment epitheliopathy.

Bone mineral density of the internal auditory meatus with acoustic neuroma

The bone mineral density of the internal auditory meatus was investigated by means of quantitative computed tomography (QCT) in 12 patients with acoustic tumor. Investigated portions of the internal auditory meatus were the anterior and posterior porus and the anterior and posterior fundus. The bony vestibule and cortical bone of the mastoid cavity were also investigated. The bone density values (calcium carbonate equivalent value) for each portion were analyzed statistically. Another investigation by CT program "Profile" revealed changes in CT values along the posterior wall of the internal auditory meatus, and the results were compared with that of the QCT. The following results were obtained: 1) The highest calcium carbonate equivalent value was found in the posterior fundus, the lowest in the anterior porus. There were significant differences between the bilateral fundus and porus values. 2) There was a marked difference only in the anterior fundus of the abnormal side in comparison with the normal side, while differences in the other 5 portions were not statistically significant. 3) There were no significant differences in any of the portions between cases of superior vestibular nerve origin and those of inferior vestibular nerve origin. 4) In Profile, the CT values increased gradually from the porus to the fundus on both sides. A dip formation, indicating a lower CT value, was found between the porus and fundus in many cases. It was suggested that this dip formation was influenced by pneumatization of the posterior wall of the internal auditory meatus.

Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis

Bilateral pigmented fundus lesions were found in 65 out of 72 patients with familial adenomatous polyposis, an additional five patients having unilateral lesions. With a family history of familial adenomatous polyposis, the occurrence of multiple bilateral fundus lesions indicates the presence of the abnormal gene, as does the occurrence of oval pigmented lesions with surrounding pale haloes. The absence of pigmented fundus lesions does not exclude the abnormal genotype, while the presence of occasional pigmented spots can be found in an appreciable percentage of the population. Ocular examination would, however, appear to be valuable in screening those at risk, with a positive yield in most carriers of the gene for familial adenomatous polyposis.

Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome.

We examined 134 members of 16 families with Gardner's syndrome for pigmented ocular fundus lesions. Of 41 patients with documented Gardner's syndrome, 37 (90.2 percent) had such lesions. The lesions were bilateral in 32 of the patients (78.1 percent) and in 2 of 42 controls (4.8 percent). Twenty (46.5 percent) of 43 first-degree relatives at 50 percent risk for Gardner's syndrome had bilateral pigmented fundus lesions, indicating that they had probably inherited the abnormal gene. The presence of bilateral lesions, multiple lesions (more than four), or both appeared to be a specific (specificity, 0.952) and sensitive (sensitivity, 0.780) clinical marker for Gardner's syndrome. The lesions are probably congenital; they were observed in a three-month-old baby at risk. The multiplicity of the pigmented fundus lesions and their association with diffuse disturbances of the retinal pigment epithelium in the same eye suggest a widespread expression of the abnormal gene in the retinal pigment epithelial cells.

HELICOIDAL PERIPAPILLARY CHORIORETINAL DEGENERATION

A family with helicoidal peripapillary chorioretinal degeneration is described. This is a rare bilateral fundus affection--only seven more or less typical cases have been reported in the literature. 21 patients from the same family in four generations were examined, 10 men and 11 women. Seven men and six women showed a helicoidal affection. Of this number, there were 11 children aged from 4-17 years, six were girls of whom three had helicoidal fundus and five were boys of whom two were affected. General examination revealed nothing of particular interest. We have here a congenital hereditary fundus anomaly or minor malformation in four generations--young people with normal visual acuity who develop with age a clear tendency to invasion of the macular region by a degenerative process. This is most dangerous for the visual acuity when the atropic helicoidal wings lie in or near the macula region.

Unilateral High Myopia with Bilateral Degenerative Fundus Changes

Unilateral High Myopia with Bilateral Degenerative Fundus Changes