Focal Parafoveal Retinal Telangiectasis

Hutton, William L.; Snyder, William B.; Fuller, Dwain G.; Vaiser, Albert

doi:10.1001/archopht.1978.03910060116003

Cited by 50 publications

(24 citation statements)

References 9 publications

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“…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.…”

supporting

confidence: 39%

“…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: 42%

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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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supporting

confidence: 39%

mentioning

confidence: 42%

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

et al. 2017

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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: 45%

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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“…Hutton et al 16 described two sisters with the disorder, although in one case retinal signs were unilateral. In the large series collected by Gass and BIodi, tl three patients from group 2, comprising 92 cases, were noted to be siblings, but the clinical features of these individual cases are not described.…”

Section: Discussionmentioning

confidence: 39%