Foveal Hypoplasia in Patients with Stickler Syndrome

Matsushita, Itsuka; Nagata, Tatsuo; Hayashi, Takaaki; Kimoto, Katsuhiko; Kubota, Toshiaki; Ohji, Masahito; Kondo, Hiroyuki

doi:10.1016/j.ophtha.2017.01.046

Cited by 42 publications

(26 citation statements)

References 26 publications

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“…The absence of FAZ was also reported in eyes with threshold/prethreshold ROP 31,32 and Stickler syndrome. 33 Another novel finding in the current study is that both the superficial and deep parafoveal retinal vascular density (VD) was lower in the FEVR group than in the normal controls. There are no reports on the change of VD in ROP 31,34 or Stickler syndrome, 33 so the underlying mechanism remains unclear.…”

Section: Discussionmentioning

confidence: 51%

“…33 Another novel finding in the current study is that both the superficial and deep parafoveal retinal vascular density (VD) was lower in the FEVR group than in the normal controls. There are no reports on the change of VD in ROP 31,34 or Stickler syndrome, 33 so the underlying mechanism remains unclear. However, we suggest that this phenomenon is at least one possible reason for lower visual density in the parafoveal area of FEVR patients.…”

Section: Discussionmentioning

confidence: 51%

“…There are several other retinal diseases known to have preserved foveal IRL, such as retinopathy of prematurity (ROP), 31,32 albinism, 35 and Stickler syndrome. 33 Previous studies have shown an absence of FAZ in eyes with threshold/prethreshold ROP 31,32 and an absence of the foveal depression in half the eyes in preterm birth children, even without ROP. 36 Although the underlying mechanisms of these diseases differ, this similar finding in different disease entities suggests that the persistence of fovea IRL might be a common result of abnormal macular development in early infancy.…”

Section: Discussionmentioning

confidence: 96%

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Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation

Chen

Liu

Wang

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. To evaluate the microstructure of the fovea in patients with familial exudative vitreoretinopathy (FEVR) compared to healthy controls using optical coherence tomography angiography (OCTA). METHODS. In this consecutive, cross-sectional, observational case series, 41 eyes of 41 patients diagnosed as FEVR and 37 eyes in 37 control subjects were studied. OCTA was utilized to automatically measure the foveal avascular zone (FAZ) and the vessel density (VD). Inner retinal thicknesses (IRT) and central retinal thickness (CRT) were measured with the instrument caliper. Targeted next-generation sequencing was performed, and phenotypegenotype association was analyzed. RESULTS. Small FAZ was found in 31.70% (13/41) FEVR eyes but not in controls. Greater CRT and lower superficial foveal VD were noted in FEVR patients. FAZ is negatively correlated with IRT. Persistence of the inner retinal layer (IRL) in fovea was present in 48.78% (20/41) FEVR eyes but not found in controls. Zero percent (0/10) of patients with the low-density lipoprotein receptor-related protein 5 (LRP5) mutation, 50% (1/2) with the frizzled-4 (FZD4) mutation, and 66.67% (3/4) with the tetraspanin-12 (TSPAN12) mutation had preserved foveal IRL and small FAZ. CONCLUSIONS. Our data indicate FEVR status is associated with a significantly smaller FAZ, decreased vascular density in both the superficial and deep layers of parafoveal area, a thicker fovea, and an abnormally preserved IRL in fovea. In addition, patients with the LRP5 mutation had a milder phenotype than those with the FDZ4 or TSPAN12 mutations. These novel findings could provide insight into the understanding of the pathogenesis of FEVR.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 96%

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Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation

Chen

Liu

Wang

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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“…Interestingly, similar findings including foveal hypoplasia, persisting inner retinal layers and smaller or absent FAZ were reported for patients with Stickler syndrome. 28 Stickler syndrome is an inherited disease due to mutations mostly in the COL2A1 and COL11A1 genes, encoding for collagen II and XI, respectively. These similar findings in two monogenetic diseases with mutations in genes coding for collagen formation and assembly highlight the importance of collagen as an extracellular component in correct foveal development.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome

Hess

Pfau

Wintergerst

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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spectrum of the foveal configuration and foveal avascular zone in patients with Alport syndrome. Invest Ophthalmol Vis Sci. 2020;61(2):5. https://doi.org/10.1167/iovs.61.2.5 PURPOSE.To investigate characteristics of the foveal pit and the foveal avascular zone (FAZ) in patients with Alport syndrome (AS), a rare monogenetic disease due to mutations in genes encoding for collagen type IV. METHODS.Twenty-eight eyes of nine patients with AS, and five autosomal-recessive carriers and 15 eyes from 15 age-similar healthy control subjects were examined using optical coherence tomography (OCT) and OCT-angiography (OCT-A). Foveal configuration and FAZ measures including the FAZ area, circularity, and vessel density in the central 1°and 3°were correlated. RESULTS.Foveal hypoplasia was found in 10 eyes from seven patients with either genotype. In contrast, a staircase foveopathy was found in seven eyes of four X-linked AS patients. The average FAZ area did not differ significantly between AS patients and control subjects (mean ± SD 0.24 ± 0.24 mm 2 vs. 0.21 ± 0.09 mm 2 ; P = 0.64). Five eyes showed absence or severe anomalies of the FAZ with crossing macular capillaries that was linked to the degree of foveal hypoplasia on OCT images leading to a significant inverse correlation of FAZ area and foveal thickness (r = −0.88; P < 0.001). In contrary, female patients with X-linked mutations exhibited a significantly greater FAZ area (0.48 ± 0.30 mm 2 vs. 0.21 ± 0.09 mm 2 ; P = 0.007), in line with OCT findings of a staircase foveopathy. CONCLUSIONS.The foveal phenotypic spectrum in AS ranges from foveal hypoplasia and absence of a FAZ to staircase foveopathy with an enlarged FAZ. Because the development of the FAZ and foveal pit are closely related, these findings suggest an important role for collagen type IV in foveal development and maturation.

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“…In addition, Matsushita et al. () analysed 39 eyes of 25 STL1 patients with genetically confirmed and found that 82% of eyes (32/39) presented mild foveal hypoplasia with a persistence of IRL. This sign was also found in the probands of family A and B.…”

Section: Discussionmentioning

confidence: 99%

Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

Wang

Gao

et al. 2019

Acta Ophthalmologica

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Purpose: To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum of COL2A1 mutations in the Chinese population, which is poorly studied at present. Methods: In the current study, we analysed 115 patients with high myopia by next-generation sequencing and identified five STL1 patients from four unrelated Chinese families. The clinical features of all patients were reviewed in detail. Results: Four variants of COL2A1 were identified, including two novel variants (c.1435delG and c.184delG) and two previously reported variants (c.1221+1G>A and c.1030C>T). Three variants caused premature termination codons which were common in STL1. In addition, we proposed a new diagnostic tactic to improve early diagnostics of STL1 in patients. Conclusion: In this study, our findings expanded the spectrum of COL2A1 mutations with two novel variants and provided a new diagnostic tactic for reference, which was of great significance. Precise diagnosis on the basis of clinical manifestations and genetic testing will become the gold standard to diagnose inherited ocular disorders or syndromes in the future.

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Foveal Hypoplasia in Patients with Stickler Syndrome

Cited by 42 publications

References 26 publications

Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation

Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation

Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome

Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

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