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PubMed1990

[Coats' disease and familial retinal arteriolar tortuosity].

The first Japanese autosomal dominant pedigree of familial retinal arteriolar tortuosity was presented with photographical documentation. The proband, a 7-year-old girl also had typical Coats' disease in her left eye. The fluorescein fundus angiogram revealed retinal telangiectasis and microaneurysms with dye leakage in her left peripheral eyeground and marked arteriolar tortuosity without dye leakage in posterior portions of both eyegrounds. Her father showed prominent retinal arteriolar tortuosity bilaterally, and her sister and paternal grandmother showed mild tortuosity of retinal arterioles in both eyes. The recently proposed hypothesis that the familial retinal arteriolar tortuosity is caused by the retinal microcirculatory disturbance consisting of increased resistance in the retinal capillary bed might explain the coincidental occurrence of retinal arteriolar tortuosity and Coat's disease in this report.

Aneurysm↗

PubMed1986

Isolated retinal telangiectatic masses.

The clinical findings of 20 patients with an isolated peripheral retinal mass secondary to retinal telangiectasis were reviewed. The important clinical features were subretinal exudation, vitreous haemorrhage and retinal detachment. No associated systemic abnormalities were identified. Early results suggest that cryotherapy is effective for the reduction of subretinal exudation but not for macular oedema. Patients with extensive retinal detachment complicated by vitreous haemorrhage and epiretinal membrane formation were treated with vitreoretinal surgery.

Adult↗

PubMed2001

Preretinal neovascularisation associated with choroidal melanoma.

BACKGROUND: The rare occurrence of iris neovascularisation and choroidal (subretinal) neovascularisation in patients with choroidal melanoma has been reported. However, the occurrence of preretinal neovascularisation (NVE) fed from the retinal circulation in eyes with choroidal melanoma is far less frequently reported. METHODS: Three case reports of choroidal melanoma with the very rare finding of overlying NVE. RESULTS: The three patients had choroidal melanomas, localised serous retinal detachment, and NVE. Two cases showed definite retinal capillary non-perfusion, and one of these two cases demonstrated retinal telangiectasis. One patient's melanoma responded quickly to iodine-125 plaque radiotherapy; however, the retinal neovascularisation persisted and caused vitreous haemorrhage. Localised scatter photocoagulation was successful in causing the complete regression of the neovascularisation. The other two patients had their eyes enucleated (one with planned pre-enucleation external beam radiotherapy). Demonstration of preretinal vessels in one of the cases was possible in histological sections. CONCLUSION: Preretinal neovascularisation may occur as a complication of choroidal melanoma. Possible aetiologies include the release of tumour angiogenic factors, inflammation, chronic retinal detachment with secondary retinal ischaemia, retinal vascular occlusion secondary to retinal vessel invasion by the tumour, or following radiation therapy. Optimal management of the neovascularisation is not known at this time. Supplemental localised scatter photocoagulation may be of benefit in some cases.

Adult↗

PubMed2006

Photodynamic therapy for subretinal neovascularization in type 2A idiopathic juxtafoveolar telangiectasis.

BACKGROUND: Photodynamic therapy (PDT) with verteporfin is now the standard of care worldwide for the treatment of choroidal neovascularization, but has been used only rarely in those with subretinal neovascular membranes (SRNVM) due to type 2A idiopathic juxtafoveolar retinal telangiectasis (IJT). We performed a retrospective study to examine the outcome of patients treated with PDT for SRNVM secondary to IJT. METHODS: Retrospective interventional case series of 7 eyes of 6 IJT patients with SRNVMs treated with PDT. Ophthalmic examination and fluorescein angiography were performed before treatment, with retreatment every 3 months as needed. The main outcome was the proportion of patients avoiding vision loss (change of +/- 4 letters, or better). RESULTS: Baseline Snellen acuity ranged from 20/40 to 20/400 (median 20/80). Mean follow-up was 21 months. Patients received 2.4 treatments on average. Five of 7 patients avoided vision loss; acuity improved in 3 eyes (> or = 1 line improvement), stayed the same in 2 eyes (+/- 4 letters) and decreased in 2 eyes (> or = 1 line decrease) over time. Median final acuity was 20/80. Five of 7 eyes had final acuities of > or = 20/200. No leakage was observed in any eyes following cessation of treatment.

Adult↗

PubMed2001

[Myelinated nerve fibers associated with juxtapapillary haemorrhages].

The myelinated nerve fibers (MNF) are o congenital anomaly characterized by the extension of the myelinisation process anterior from the lamina cribosa. The incidence of myelinated nerve fibers is 0.3-0.6% in patients and 0.54% in eyes from autopsies. Although these represent benign lesion, rarely are associated with retinal abnormalities: vascular abnormality (retinal telangiectasis, cranial-facial lesions, coloboma of the iris, keratoconus, myopia/strabismus, amblyopia). Myelinated nerve fibers asSociated with juxtapapillary haemorrhages was not reported in the available literature. We describe the clinical findings and diagnostic particularities of myelinated retinal nerve fibers associated with juxtapapillary haemorrhages in a personal case. An 40-year-old woman was referred for unilateral papillary abnormalities. The diagnosis was myelinated retinal nerve fibers as white striated patches with feathery edges, associated with two juxtapapillary haemorrhages. The clinical and pathogenic features are discussed. Based on the association between the myelinated nerve fibers, the juxtapapillary haemorrhages there is a possible pathogenic correlation between these elements. The action of the myelinated nerve fibers can be explained by a mechanical compression, with the disruption of the retinal artery, a structural vulnerable artery.

Adult↗

PubMed2001

[Coats disease].

In spite of an unclear definition of Coats disease, this angiomatosis can be defined by the presence of retinal telangiectasis of nondetectable etiology, complicated by severe exudative phenomena. The diagnosis of this serious affection remains difficult because of its numerous clinical forms, which vary according to the age at which the disease appears and the progressive nature of the exudative phenomena. The consequences on the young child are all the more dangerous because it is too often discovered late. It seems necessary to attempt to stop the progression of Coats disease by destroying the telangiectasis responsible for intra- and subretinal exudation. No coagulation technique has been shown to be more effective than others and the predominance of heterogeneous series in the literature makes it difficult to evaluate the therapeutic results. In cases of severe retinal detachment, these coagulations can only be done after the often difficult drainage of the subretinal fluids.

Adolescent↗

PubMed1996

Vitrectomy in eyes with peripheral retinal angioma associated with traction macular detachment.

PURPOSE: Peripheral angiomas have been associated with epiretinal membranes and traction retinal detachment. The authors investigated the timing, results, and complications of vitreous surgery to remove the retinal traction and treat the peripheral vascular tumor. METHODS: The authors reviewed the results of ten eyes that had undergone vitrectomy for macular pucker and/or traction retinal detachment. These eyes had either preoperative or intraoperative treatment of the peripheral tumor. RESULTS: Patients were followed 4 to 95 months. Six eyes had nonfamilial peripheral acquired retinal hemangioma, three had von Hippel angiomas, and one had multiple large peripheral retinal angiomas associated with extensive retinal telangiectasis. Four eyes received cryotherapy and/or laser photocoagulation 2 to 3 months before surgery. In the remaining six eyes, initial treatment to the peripheral angioma was performed at the time of vitreous surgery. At final follow-up, all eyes were attached without retinal traction. Vision improved in all eyes; six (60%) achieved 20/50 or better visual acuity. Complications included recurrent epiretinal membrane (n=3); nonregressed angiomas (n=3); increased nuclear sclerosis (n=2); and retinal detachment (n=1). CONCLUSION: Vitreous surgery, when applied to epiretinal membranes or traction retinal detachments associated with peripheral vascular tumors, has a good chance of improving vision. Treatment of the hemangioma, before or during vitrectomy, usually results in tumor regression.

Adult↗

PubMed1999

Facioscapulohumeral muscular dystrophy.

A decade's progress in facioscapulohumeral muscular dystrophy genetics has been marked by the discovery of novel genetic phenomena such as crossover of subtelomeric DNA between chromosomes 4 and 10 in normal individuals and by the recognition that the facioscapulohumeral muscular dystrophy deletion-mutation may cause a position variegation effect on more proximal DNA. The mutated DNA itself is probably not transcribed. Larger deletions tend to cause more severe disease. Antenatal diagnosis, based on detection of the short fragment of mutated DNA, is possible in between 95 and 100% of cases, depending on the precise nature of the parental facioscapulohumeral muscular dystrophy mutation. Yet remarkably, the nature of the gene product(s) of the affected proximal gene(s), as well as of the molecular pathogenesis of facioscapulohumeral muscular dystrophy muscle, retinal and cochlear disease, is completely unknown. Marked perivascular inflammation is often present in facioscapulohumeral muscular dystrophy muscle biopsies. The expression of facioscapulohumeral muscular dystrophy within reported monozygotic twinships differs greatly. This raises the question of whether variations in expression of the T-cell receptor gene repertoire or of other immune genes play an important modifying role in determining the severity of facioscapulohumeral muscular dystrophy. A focus on traditional scientific disciplines may now be appropriate. Symptomatic treatments, for instance of scapular winging and of lagophthalmos, are important, and timely photocoagulation of the retinal exudates which are a very rare, but real, complication of retinal telangiectasis can curtail visual loss. The results of collobarative trials of pharmacological agents such as albuterol which affect muscle mass and development are awaited.

Diagnosis, Differential↗

PubMed2000

Retinal vasoproliferative tumors: surgical management and histological findings.

Vascular masses occurring in the peripheral retina have been described extensively in the literature. Many terms, including "presumed acquired hemangiomas," "hemangioma-like," "angiomatous masses," "angioma-like," "peripheral retinal telangiectasis," and "vasoproliferative tumors," have been suggested that reflect the lack of the known histological features and the potentially variable causes. We describe the histological features of 2 patients who underwent transcleral local resection as management for suspected choroidal melanoma. Pathological examination of these tumors reveals the constituents to be primarily benign glial cell proliferation with secondary vasoproliferation. The weight of the literature agrees with a reactionary process. We therefore suggest the term "reactionary retinal glioangiosis." Transcleral resection has a place where diagnosis is difficult. It prevents an unnecessary enucleation and allows accurate tissue diagnosis.

Cell Division↗

PubMed2003

Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene.

PURPOSE: To investigate whether individuals, with no family history of ataxia telangiectasia (AT), in whom idiopathic or radiation-induced ocular telangiectasia developed are carriers of ATM gene mutations. METHODS: The ATM cDNA from lymphoblastoid cell lines established from 16 patients with idiopathic retinal or choroidal telangiectasia and 14 patients with radiation-induced telangiectasia after radiotherapy for age-related macular degeneration (AMD) was screened using the restriction endonuclease fingerprinting technique. The frequency of each detected variant was determined in the French population by either a mass spectrometry-based technique or variant-specific endonuclease digestion. RESULTS: Twenty-one ATM missense alterations, at 10 different sites, 8 of which would result in an amino acid substitution at a conserved position in the ATM protein were found. Four were novel changes, three of which were not detected in the 128 French control subjects screened. Eleven of 16 of the individuals with either idiopathic polypoidal choroidal vasculopathy or juxtafoveolar retinal telangiectasis and 6 of 14 individuals that had choroidal telangiectasis after radiotherapy for AMD carried ATM sequence variants. These latter six individuals had a significantly shorter delay time before the presentation of this vasculopathy compared with those individuals who had a wild-type ATM (11.8 +/- 3.4 months vs. 17.5 +/- 4.5 months, P = 0.024). They had also received a lower average dose of X-rays, although this difference did not reach statistical significance (18.7 +/- 3.9 Gy vs. 23.7 +/- 5.6 Gy, P = 0.09). CONCLUSIONS: ATM missense variants could confer an AT-like phenotype and influence the formation of retinal and choroidal vascular abnormalities.

Adult↗

PubMed2002

Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.

PURPOSE: Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. METHODS: Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted onto glass slides and hybridized with fluorescently labeled RNA-derived targets. More than 230 differentially expressed clones were sequenced, and their expression patterns were verified by virtual Northern blot analysis. RESULTS: Numerous gene transcripts that are absent or downregulated in the eye of Ndp knockout mice are photoreceptor cell specific. In younger Ndp knockout mice (up to 1 year old), however, all these transcripts were found to be expressed at normal levels. CONCLUSIONS: The identification of numerous photoreceptor cell-specific transcripts with a reduced expression in 2-year-old, but not in young, Ndp knockout mice indicates that normal gene expression in these light-sensitive cells of mutant mice is established and maintained over a long period and that rods and cones are affected relatively late in the mouse model of ND. Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse.

Animals↗

PubMed1954