Cases reported "retinal drusen"

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1/26. 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)

2/26. 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. ( info)

3/26. Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration.

    PURPOSE: To describe the clinical phenotype and the intrafamilial variation in retinal findings in a North American family with an autosomal dominant drusen disorder that maps to chromosome 6q14. methods: Ophthalmic examinations were carried out on participating family members. Fundus photographs were obtained whenever possible. electroretinography was performed on the proband and her father. blood was drawn for dna analysis. RESULTS: Twelve family members had drusen and/or atrophic macular degeneration. The disease in asymptomatic young adults is characterized by fine drusen that are most conspicuous in the macula. The proband presented at 3 years of age with atrophic maculopathy and drusen. Her cousin was found to have atrophic macular lesions and drusen in the first year of life. Two older affected individuals have reduced vision from cicatricial and atrophic macular changes. The gene for the disease was mapped to chromosome 6q14 and appears to be adjacent to but distinct from the locus for north carolina macular dystrophy. CONCLUSIONS: There is extreme variability in the clinical expression of this dominant form of drusen and macular degeneration. Most young adults have fine macular drusen and good vision. Affected infants and children may have congenital atrophic maculopathy and drusen. There is historical evidence of progression of the disease in late adulthood with moderate visual loss. ( info)

4/26. Dominant radial drusen and Arg345Trp EFEMP1 mutation.

    PURPOSE: To report a new North American family with dominant radial drusen and Arg345Trp mutation in the EFEMP1 gene. methods: Clinical and molecular genetic family study. RESULTS: Four family members had macular drusen, and one had submacular fibrosis and visual loss. An Arg345Trp mutation of the EFEMP1 gene was detected in three affected family members, but not in three unaffected members. CONCLUSION: The Arg345Trp mutation remains the only cause of Doyne hereditary macular dystrophy, also known as Malattia Leventinese or radial dominant drusen. ( info)

5/26. Findings on retinal topography and thickness mapping in age-related macular degeneration.

    PURPOSE: To report alterations in the retinal topography and thickness in typical cases of age-related macular degeneration (ARMD). methods: An optical imaging system was applied to patients with ARMD with alterations in the retinal structures. The system generates a series of 20 optical section images that encompass a 2 mm x 2 mm retinal area. The optical sections are digitized and analyzed to provide topographic maps of the vitreo-retinal and chorio-retinal surfaces and the retinal thickness. RESULTS: Retinal topography and thickness mapping in a normal eye corresponded to normal anatomy. Topographic mapping in a patient with confluent drusen indicated elevation of the vitreo-retinal surface. Retinal topography in a patient with retinal pigment epithelium detachment displayed localized elevation of the chorio-retinal surface. The thickness map in a patient with geographic atrophy of the retinal pigment epithelium revealed retinal thinning. In the patients with choroidal neovascularization, the vitreoretinal and chorio-retinal surfaces were elevated. The chorio-retinal surface map in a patient with evolving disciform scar displayed topographic variations corresponding to the fibrovascular tissue underlying the serous detachment. CONCLUSION: Retinal topography and thickness mapping is useful for visualization and evaluation of pathologic alterations in retinal structures due to ARMD. ( info)

6/26. Photodynamic therapy with verteporfin in mallatia leventinese.

    OBJECTIVE: To describe a case of a patient with documented genetic mallatia leventinese who developed a classic choroidal neovascular membrane and underwent photodynamic therapy (PDT) with verteporfin (Visudyne; CIBA Vision Corp., Duluth, GA). DESIGN: Interventional case report. INTERVENTION: The patient underwent a complete ophthalmologic evaluation and fluorescein angiography. Photodynamic therapy with verteporfin was performed. MAIN OUTCOME MEASURES: Clinical and angiographic records were analyzed for evidence of changes in visual acuity, clinically evident subretinal fluid and the extent of fluorescein leakage from choroidal neovascularization (CNV). RESULTS: Three weeks after treatment, a fluorescein angiogram showed closure of the neovascular membrane, no evident subretinal fluid was seen, and visual acuity had improved from 20/60- to 20/40. Nine weeks after the application, fluorescein angiography demonstrated a microscopic hyperfluorescent spot at the site of the previously active CNV at which a small area of shallow subretinal fluid was observed, and visual acuity was 20/50. Thirty-four weeks after PDT, visual acuity was 20/60, subretinal fluid resolved, and fluorescein angiography did not show any further changes. CONCLUSIONS: Photodynamic therapy with verteporfin may be considered as a possible treatment in patients with mallatia leventinese who develop classic CNV. ( info)

7/26. Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type II ("dense deposit disease").

    patients with mesangiocapillary glomerulonephritis (MCGN) type II usually present by early adulthood with hematuria, proteinuria, and renal impairment, and these features often are accompanied by a partial lipodystrophy and an autoantibody for the alternative complement pathway convertase (C3NeF). The diagnosis of MCGN type II depends on the demonstration of "dense deposits" in the glomerular basement membrane (GBM). Most patients also have multiple subretinal white spots or drusen that are histopathologically identical with the GBM deposits and evident ophthalmoscopically by the time renal failure develops. Initially visual acuity and visual fields are preserved, but fluorescein angiography and specialized tests of retinal function, such as dark adaptation, electroretinography, and electrooculography, may be abnormal and will worsen progressively. Over the next 20 years, vision often deteriorates because of retinal atrophy, and sometimes because of subretinal neovascular membranes, macular detachment, and central serous retinopathy. The authors describe a patient with MCGN type II who presented with renal failure and impaired vision at the age of 59. He already had widespread retinal atrophy, and subsequently a subretinal membrane developed. The drusen seen in MCGN type II, like the partial lipodystrophy, are a helpful clinical pointer to the diagnosis of this condition. All patients with MCGN type II should be warned of the risk of retinal complications and reviewed by an ophthalmologist at presentation and regularly after about 10 years to minimize the loss of visual acuity from complications of the retinopathy. ( info)

8/26. Focal inner retinal hemorrhages in patients with drusen: an early sign of occult choroidal neovascularization and chorioretinal anastomosis.

    PURPOSE: To present evidence that superficial retinal hemorrhage in the macula of patients with age-related macular degeneration (ARMD) may be an early sign of occult chorioretinal anastomosis (OCRA) and type 1 occult choroidal neovascularization (OCNV). methods: Retrospective follow-up study of 16 patients presenting with a small focal area of superficial retinal hemorrhages and drusen in the juxtafoveolar area in 24 eyes. RESULTS: OCRA and OCNV occurred in an older subset of patients with ARMD (mean age, 75 years). Of 22 eyes with the early stages of chorioretinal anastomosis (CRA), 18 had evidence of a piggyback neovascular complex, with the smaller subsensory retinal type 2 complex lying anterior to the larger subretinal pigment epithelial type 1 complex. At initial presentation, three patients had OCRA and OCNV bilaterally, and three patients had large disciform cicatricial lesions with overt CRA in the fellow eye. Nine patients had one or more laser photocoagulation treatments for early stages of CRA. Only one patient maintained visual acuity of better than 20/200 for >1 year. At the last follow-up, 24 of 26 eyes with CRA had visual acuity of 20/200 or less. CONCLUSION: Superficial retinal hemorrhage in the paracentral area of patients with drusen is the earliest sign of OCRA and OCNV. fluorescein angiography and indocyanine green angiography are important in detecting the dual nature of the subretinal neovascular network. Photocoagulation and photodynamic treatment is usually unsuccessful in preserving central vision. ( info)

9/26. bloom syndrome: multiple retinopathies in a chromosome breakage disorder.

    AIM: To describe multiple retinal abnormalities in a patient with bloom syndrome, including early macular drusen, diabetic retinopathy, and the onset of leukaemic retinopathy. methods: Clinical data were collected over 1 year of follow up, and ocular abnormalities in bloom syndrome were reviewed from the literature. RESULTS: A 39 year old man with a rare autosomal recessive "chromosome breakage" syndrome was followed. A variety of ocular findings have been reported in bloom syndrome; this patient had hard drusen in both maculae, non-proliferative diabetic retinopathy, and haemorrhagic retinopathy as a herald of acute lymphocytic leukaemia. CONCLUSIONS: bloom syndrome is a rare disorder of genomic instability, in which a variety of ocular abnormalities have been found. Described here are multiple retinal manifestations arising from characteristic systemic associations of diabetes mellitus and leukaemia, as well as macular hard drusen. ( info)

10/26. Early-onset drusen in a girl with bloom syndrome: probable clinical importance of an ocular manifestation.

    Ophthalmic examination of a girl admitted with the complaint of growth failure revealed retinal hard drusen. It was surprising to observe drusen in a child because they represent an age-related degenerative change in normal individuals. After further evaluation, she was diagnosed to have bloom syndrome, a premature aging syndrome. To the authors' knowledge, this is the first case of bloom syndrome associated with drusen. It is probable that not only aging but also other fundamental cell processes, especially uncontrolled cell proliferation, might be similarly affected and might follow a more rapid course in this inherited condition presenting with drusen. The authors suggest paying extra attention to drusen during the ophthalmic assessment in the diagnosis of all bloom syndrome patients; it may be prudent to watch more carefully for the development of cancer in patients with drusen than those without drusen. ( info)
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