Bilateral Juxtafoveal Telangiectasis in a Family

Oh, Kean T.; Park, Donald W.

doi:10.1097/00006982-199903000-00012

Cited by 20 publications

(12 citation statements)

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“…14 The occurrence of group 2a IJRT in identical twins and in two families suggests a possible genetic component to this disorder. [33][34][35] We propose that patients with group 2a IJRT may have defective Müller cells that selectively degenerate in the parafoveal area over time and eventually give rise to all of the abnormalities seen in this disease.…”

Section: Discussionmentioning

confidence: 99%

Optical Coherence Tomography Findings in Nonproliferative Group 2a Idiopathic Juxtafoveal Retinal Telangiectasis

Cohen

Cohen²,

El-Jabali³

et al. 2007

Retina

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Purpose:To determine the optical coherence tomography (OCT) findings in eyes with group 2a idiopathic juxtafoveal retinal telangiectasis (IJRT).Methods: Forty-one eyes of 22 patients with nonproliferative group 2a IJRT were examined. OCT testing including retinal topographic mapping and analysis, and horizontal and vertical line scans, was obtained on each eye.Results: None of the 41 eyes had a thickened foveal center. The average center foveal thickness was 166 m (31-264 m). Stage 1 eyes (n ϭ 2) were normal fellow eyes in patients with contralateral group 2a IJRT. Stage 2 eyes (n ϭ 11) all had parafoveolar temporal graying and intraretinal temporal fluorescein leakage, but rarely had photoreceptor disruption (18%) on OCT testing. Stage 3 eyes (n ϭ 14) all had clinical and fluorescein findings similar to or more pronounced than stage 2 eyes. All stage 3 eyes also had one or more foveal cysts at various retinal depths on OCT. Most of these eyes (86%) had photoreceptor disruption and outer retinal atrophy on OCT. Stage 4 eyes (n ϭ 14) all had a black foveal or parafoveolar pigment plaque and intraretinal temporal fluorescein leakage. All stage 4 eyes had a hyper-reflective plaque with shadowing on OCT corresponding to the pigment plaque. Most of these eyes had one or more foveal cysts (64%) and all of these eyes had photoreceptor disruption and outer retinal atrophy.Conclusion: OCT helps in the staging of group 2a IJRT and reveals multiple retinal structural abnormalities.

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Section: Discussionmentioning

confidence: 99%

Optical Coherence Tomography Findings in Nonproliferative Group 2a Idiopathic Juxtafoveal Retinal Telangiectasis

Cohen

Cohen²,

El-Jabali³

et al. 2007

Retina

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“…Observations of MacTel affected monozygotic twins 4,[7][8][9] , and multiplex families with vertical transmissions of MacTel 1,5,[9][10][11][12] , suggest a genetic etiology for the disease. The late-age of onset, low penetrance and variable phenotype as exemplified by asymptomatic affected relatives 9 , and positive and negative misdiagnoses, complicate the discovery of genetic variants predisposing to MacTel.…”

mentioning

confidence: 98%

“…MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.06-1.18% of the general population 2 .Risk factors for MacTel are largely unknown, however associations have been observed with smoking 2,4 , diabetes 5,6 , high BMI 6 , hypertension 6 and obesity 6 .Observations of MacTel affected monozygotic twins 4,[7][8][9] , and multiplex families with vertical transmissions of MacTel 1,5,[9][10][11][12] , suggest a genetic etiology for the disease. The late-age of onset, low penetrance and variable phenotype as exemplified by asymptomatic affected relatives 9 , and positive and negative misdiagnoses, complicate the discovery of genetic variants predisposing to MacTel.…”

mentioning

confidence: 99%

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

et al. 2017

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Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genomewide association study (GWAS) with 476 cases and 1733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10 -8 ) were identified at 3 independent loci (rs73171800 at 5q14.3, P = 7.74 × 10 -17 ; rs715 at 2q34, P = 9.97 × 10 -14 ; rs477992 at 1p12, P = 2.60 × 10 -12 ) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences of blood serum levels of glycine (P = 4.04 × 10 -6 ) and serine (P = 2.48 × 10 -4 ) between MacTel cases and controls.MacTel cases typically present at 40-60 years with abnormal right-angled juxtafoveolar capillaries and parafoveal telangiectasias. It is an uncommon disease with a 0.0045-0.1% population prevalence and no obvious sex bias [1][2][3] . Retinal lesions typically co-present with MacTel, including retinal transparency, outer retinal and choroidal neovascularization, lamellar holes or foveal cysts, photoreceptor dysfunction, minimal exudation, yellow-white parafoveal crystals, and retinal pigment epithelial (RPE) pigmentation abnormalities and atrophy. Central vision impairment and decreased visual acuity are the usual clinical outcomes. MacTel is a bilateral disease, but asymmetry of the eyes for disease severity and presence of lesions is possible. The lesions also occur in 0.06-1.18% of the general population 2 .Risk factors for MacTel are largely unknown, however associations have been observed with smoking 2,4 , diabetes 5,6 , high BMI 6 , hypertension 6 and obesity 6 .Observations of MacTel affected monozygotic twins 4,[7][8][9] , and multiplex families with vertical transmissions of MacTel 1,5,[9][10][11][12] , suggest a genetic etiology for the disease. The late-age of onset, low penetrance and variable phenotype as exemplified by asymptomatic affected relatives 9 , and positive and negative misdiagnoses, complicate the discovery of genetic variants predisposing to MacTel. We previously screened 27 candidate genes in 8 unrelated MacTel cases but found no causative mutations 13 . Linkage analysis of 17 families with MacTel individuals identified a 15.3Mb locus on chromosome 1q41-42.2 (LOD=3.45), however sequencing of the underlying genes revealed no causative mutations 14 . Results Discovery GWAS stageThe GWAS discovery stage included genotype data for 6,312,048 single nucleotide polymorphisms (SNPs) after quality control and imputation (including 1,093,805 SNPs genotyped on the Illumina Omni SNP chips) in 476 MacTel cases and 1,733 controls (see Table 1 and Online Methods). This sample size was large enough to achieve power of at least 0.90 for risk variants with allele frequencies of 0.10-...

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“…The bilaterality of the disease together with the occurrence in monozygotic twins Hannan et al, 2007;Menchini et al, 2000;Siddiqui and Fekrat, 2005) as well as in siblings and families (Chew et al, 1986;Delaere et al, 2011;Gass and Blodi, 1993;Gillies et al, 2009;Hutton et al, 1978;Isaacs and McAllister, 1996;Oh and Park, 1999;Parmalee et al, 2012) suggests genetic factors in the pathogenesis of MacTel type 2. Vertical transmission in families suggests a dominant inheritance.…”

Section: Inheritance and Geneticsmentioning

confidence: 99%

Macular Telangiectasia Type 2

Heeren

Holz

Issa

2013

Microperimetry and Multimodal Retinal Imaging

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Macular telangiectasia type 2 is a bilateral disease of unknown cause with characteristic alterations of the macular capillary network and neurosensory atrophy. Its prevalence may be underestimated and has recently been shown to be as high as 0.1% in persons 40 years and older. Biomicroscopy may show reduced retinal transparency, crystalline deposits, mildly ectatic capillaries, blunted venules, retinal pigment plaques, foveal atrophy, and neovascular complexes. Fluorescein angiography shows telangiectatic capillaries predominantly temporal to the foveola in the early phase and a diffuse hyperfluorescence in the late phase. High-resolution optical coherence tomography (OCT) may reveal disruption of the photoreceptor inner segment-outer segment border, hyporeflective cavities at the level of the inner or outer retina, and atrophy of the retina in later stages. Macular telangiectasia type 2 shows a unique depletion of the macular pigment in the central retina and recent therapeutic trials showed that such depleted areas cannot re-accumulate lutein and zeaxanthin after oral supplementation. There have been various therapeutic approaches with limited or no efficacy. Recent clinical trials with compounds that block vascular endothelial growth factor (VEGF) have established the role of VEGF in the pathophysiology of the disease, but have not shown significant efficacy, at least for the nonneovascular disease stages. Recent progress in structure-function correlation may help to develop surrogate outcome measures for future clinical trials.In this review article, we summarize the current knowledge on macular telangiectasia type 2, including the epidemiology, the genetics, the clinical findings, the staging and the differential diagnosis of the disease. Findings using retinal imaging are discussed, including fluorescein angiography, OCT, adaptive optics imaging, confocal scanning laser ophthalmoscopy, and fundus autofluorescence, as are the findings using visual function testing including visual acuity and fundus-controlled microperimetry. We provide an overview of the therapeutic approaches for both non-neovascular and neovascular disease stages and provide a perspective of future directions including animal models and potential therapeutic approaches.

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Bilateral Juxtafoveal Telangiectasis in a Family

Cited by 20 publications

References 0 publications

Optical Coherence Tomography Findings in Nonproliferative Group 2a Idiopathic Juxtafoveal Retinal Telangiectasis

Optical Coherence Tomography Findings in Nonproliferative Group 2a Idiopathic Juxtafoveal Retinal Telangiectasis

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Macular Telangiectasia Type 2

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