Mild Optic Nerve Hypoplasia with Retinal Venous Tortuosity in Aarskog (Facial-Digital-Genital) Syndrome

Jogiya, Aryan; Sandy, Charles

doi:10.1080/13816810500229025

Cited by 7 publications

(6 citation statements)

References 4 publications

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“…Although this anomaly has been described in several genetic disorders, this seems to be the first case of AAS associated with congenital glaucoma. Although various ocular manifestations have been reported in AAS before [Kirkham et al, 1975; Brodsky et al, 1990; Pizio et al, 1994; Jogiya and Sandy, 2005; Taub and Stanton, 2008], Nevertheless, two patients with the same mutations (Patients 6 and 8) do not present with a similar ocular features and this finding may therefore be co‐incidental.…”

Section: Discussionmentioning

confidence: 96%

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

Orrico

Galli

Faivre

et al. 2010

American J of Med Genetics Pt A

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Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. We did not find any evidence for phenotype-genotype correlations between type and position of mutations and clinical features. In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed.

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Section: Discussionmentioning

confidence: 96%

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

Orrico

Galli

Faivre

et al. 2010

American J of Med Genetics Pt A

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“…3, 37, 40 Development of tortuous retinal veins and varicose veins has been linked to venous disease and genetic deficiency. 24, 28, 31, 38 However, the relationships between venous pressure, vascular wall degradation, and vein tortuosity were poorly understood. Our current results indicated that mechanical buckling could be a possible initiation mechanism for the development of tortuous veins.…”

Section: Discussionmentioning

confidence: 99%

Mechanical Buckling of Veins Under Internal Pressure

et al. 2010

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Venous tortuosity is associated with multiple disease states and is often thought to be a consequence of venous hypertension and chronic venous disease. However, the underlying mechanisms of vein tortuosity are unclear. We hypothesized that increased pressure causes vein buckling that leads to a tortuous appearance. The specific aim of this study was to determine the critical buckling pressure of veins. We determined the buckling pressure of porcine jugular veins and measured the mechanical properties of these veins. Our results showed that veins buckle when the transmural pressure exceeds a critical pressure that is strongly related to the axial stretch ratio in the veins. The critical pressures of the eight veins tested were 14.2 ± 5.4 mmHg and 26.4 ± 9.0 mmHg at axial stretch ratio 1.5 and 1.7, respectively. In conclusion, veins buckle into a tortuous shape at high lumen pressures or reduced axial stretch ratios. Our results are useful in understanding the development of venous tortuosity associated with varicose veins, venous valvular insufficiency, diabetic retinopathy and vein grafts.

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“…Though rare, tortuosity has also been observed in other vascular branches in the arterial tree. These branches include, but are not limited to: the ulnar artery and radial and digital arteries[17,18,19]. It seems that tortuosity can affect almost all medial-sized arterial branches.…”

Section: Symptomsmentioning

confidence: 99%

Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

Han¹

2012

J Vasc Res

380

355

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Tortuous arteries and veins are commonly observed in humans and animals. While mild tortuosity is asymptomatic, severe tortuosity can lead to ischemic attack in distal organs. Clinical observations have linked tortuous arteries and veins with aging, atherosclerosis, hypertension, genetic defects and diabetes mellitus. However, the mechanisms of their formation and development are poorly understood. This review summarizes the current clinical and biomechanical studies on the initiation, development and treatment of tortuous blood vessels. We submit a new hypothesis that mechanical instability and remodeling could be mechanisms for the initiation and development of these tortuous vessels.

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Mild Optic Nerve Hypoplasia with Retinal Venous Tortuosity in Aarskog (Facial-Digital-Genital) Syndrome

Cited by 7 publications

References 4 publications

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

Mechanical Buckling of Veins Under Internal Pressure

Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

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