Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT

Toma, Caterina; Ruberto, Giulio; Marzi, Federico; Vandelli, Giulio; Signorini, Sabrina; Valente, Enza Maria; Antonini, Mauro; Bertone, Chiara; Bianchi, Paolo Emilio

doi:10.1007/s10633-018-9646-x

Cited by 8 publications

(8 citation statements)

References 25 publications

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“…In our study, both JS groups showed VEP P100 ITs significantly delayed and N75-P100 reduced compared to controls, in keeping with the few published studies demonstrating abnormal VEP responses in JS [28][29][30].…”

Section: Discussionsupporting

confidence: 92%

“…First, there could be a relationship between pathogenic variants in specific JS-related genes and VEP abnormalities. In previous studies in JS, attempts at genotype-phenotype correlations have not been based on VEP recordings [27][28][29], but only on morphologic findings [30,31]. We acknowledge that the patients' cohort (n = 18) is too small to draw any meaningful correlations.…”

Section: Discussionmentioning

confidence: 98%

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Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function

et al. 2020

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Introduction: Joubert syndrome (JS) is a recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including optic nerve morphologic abnormalities. The function of the visual pathways, including the optic nerve, can be objectively evaluated by visual evoked potential (VEP) recordings. Our work aims to employ VEP to evaluate the neural

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 98%

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function

et al. 2020

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“…2 A posterior staphyloma has also been reported to be present in eyes with various inherited retinal degenerative diseases even in non-highly myopic eyes. These diseases include eyes with microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome, 3 Leber's congenital amaurosis that is caused by variants of RDH12 gene, 4 Joubert syndrome, 5 retinal ciliopathy with C21orf2 variants, 6 and retinitis pigmentosa (RP). 7,8 These case reports suggested that a retinal degeneration can not only change the morphology of the neurosensory retina but also alter the eye shape including the macula.…”

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confidence: 99%

Steeper Macular Curvature in Eyes With Non-Highly Myopic Retinitis Pigmentosa

Komori

Ueno

Ito

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. A posterior staphyloma has been reported to be present in some eyes with retinitis pigmentosa (RP), and the purpose of this study was to determine the macular curvature of non-highly myopic RP eyes. METHODS. This was a retrospective, observational study. The medical charts of the right eyes of 143 patients with RP and 60 controls whose axial length ranged from 21.5 mm to 26.0 mm were reviewed. The mean curvature of Bruch's membrane within 6 mm of the central macula obtained from the horizontal optical coherence tomographic images were evaluated as the mean macular curvature index (MMCI). The relationships between the MMCI and other clinical factors were assessed. RESULTS. The mean MMCI of RP patients (À13.73 6 9.63 3 10 À5 lm À1) was significantly lower than that of the controls (À6.63 6 5.63 3 10 À5 lm À1). This indicated a deeper concave shape of the macula in RP eyes (P < 0.001). The MMCI was significantly correlated with the age (r ¼ 0.20; P ¼ 0.016) and the axial length (r ¼ À0.24; P ¼ 0.004). Further analysis suggested a nonlinear effect of the ellipsoid zone width on the macular curvature in the RP eyes. CONCLUSIONS. There is a high incidence of steeper macular curvatures even in non-highly myopic RP eyes, and the steepness was also affected by the degree of photoreceptor degeneration.

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“…INPP5E is a widely expressed ciliary gene 8 , encoding a 72-kDa (644 amino acid) phosphatase that plays a critical role in controlling ciliary growth and stability via the phosphoinositide 3-kinase signaling pathway 9 . To date, a total of 34 pathogenic INPP5E variants have been reported, 28 of which in patients with JBTS or MORM (Mental retardation, truncal obesity, retinal dystrophy, and micropenis) syndrome (OMIM #610156) [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] . These JBTS cases include eleven patients with no signs of IRD 10,15,16,18,20,21,23 .…”

Section: Introductionmentioning

confidence: 99%

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

et al. 2021

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Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has not been made. We validate this association by reporting 16 non-syndromic IRD patients from ten families with bi-allelic mutations in INPP5E. Additional two patients showed early onset IRD with limited JBTS features. Detailed phenotypic description for all probands is presented. We report 14 rare INPP5E variants, 12 of which have not been reported in previous studies. We present tertiary protein modeling and analyze all INPP5E variants for deleteriousness and phenotypic correlation. We observe that the combined impact of INPP5E variants in JBTS and non-syndromic IRD patients does not reveal a clear genotype–phenotype correlation, suggesting the involvement of genetic modifiers. Our study cements the wide phenotypic spectrum of INPP5E disease, adding proof that sequence defects in this gene can lead to early-onset non-syndromic IRD.

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Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT

Abstract: To our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy.

Cited by 8 publications

References 25 publications

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function

Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function

Steeper Macular Curvature in Eyes With Non-Highly Myopic Retinitis Pigmentosa

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

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