Choroidal thickness in Waardenburg syndrome

Rishi, Pukhraj; Multani, Priyansha; Prasan, Vishnu Vahan; Rishi, Ekta; Attiku, Yamini

doi:10.3205/oc000111

Cited by 3 publications

(1 citation statement)

References 9 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The phenotypes of Mitf mi-bw /Mitf mi-bw mice resemble the symptoms of Waardenburg syndrome (WS) type 2 [ 70 , 71 ]. A thinning choroid has also been reported in some patients with WS [ 72 , 73 ], but the case number is limited. Thus, it is difficult to discuss the relevancy of choroidal hypoplasia in Mitf mi-bw /Mitf mi-bw mice in human ocular disorder.…”

Section: Melanocytesmentioning

confidence: 99%

Molecular and Cellular Regulations in the Development of the Choroidal Circulation System

Imanishi

Tomita

Negishi

et al. 2023

IJMS

View full text Add to dashboard Cite

Disorders in the development and regulation of blood vessels are involved in various ocular disorders, such as persistent hyperplastic primary vitreous, familial exudative vitreoretinopathy, and choroidal dystrophy. Thus, the appropriate regulation of vascular development is essential for healthy ocular functions. However, regulation of the developing choroidal circulation system has not been well studied compared with vascular regulation in the vitreous and the retina. The choroid is a vascular-rich and uniquely structured tissue supplying oxygen and nutrients to the retina, and hypoplasia and the degeneration of the choroid are involved in many ocular disorders. Therefore, understanding the developing choroidal circulation system expands our knowledge of ocular development and supports our understanding of ocular disorders. In this review, we examine studies on regulating the developing choroidal circulation system at the cellular and molecular levels and discuss the relevance to human diseases.

show abstract

Section: Melanocytesmentioning

confidence: 99%

Molecular and Cellular Regulations in the Development of the Choroidal Circulation System

Imanishi

Tomita

Negishi

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I

Grewal

Knight

Michaelides

2020

Ophthalmic Genetics

View full text Add to dashboard Cite

BackgroundWaardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature. Materials and MethodsWe describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I. Case DescriptionOur patient had a history of white forelock and congenital hearing loss. Ophthalmic examination demonstrated iris heterochromia and highly asymmetric choroidal hypopigmentation, with generalised fundus hyperautofluorescence. Similarly, the patient's mother demonstrated highly asymmetric fundus hypopigmentation. Genetic testing confirmed a pathogenic PAX3 nonsense variant. ConclusionOur report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I.

show abstract

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report

2022

View full text Add to dashboard Cite

Background Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris. There are four types of Waardenburg syndrome (1–4) with different characteristics. Mutations in six genes have been identified to be associated with the various types. Herein, we describe a case of Waardenburg syndrome type 4 combined with open-angle glaucoma. Case presentation A 43-year-old Han Chinese man had undergone trabeculectomy due to progression of visual field impairment and unstable intraocular pressure in both eyes. Slit-lamp examination revealed diffuse iris hypopigmentation in the left eye and hypopigmentation of part of the iris in the right eye. Fundus examination showed red, sunset-like fundus due to a lack of pigmentation in the retinal pigment epithelium layer, diffuse loss of the nerve fiber layer, and an excavated optic nerve head with advanced-stage glaucoma. Imaging was performed using anterior segment optical coherence tomography to detect the iris configuration. In the heterochromic iris portion, the normal part of the iris showed a clear hyperreflective signal of the anterior border layer, while atrophy of the pigmented anterior border layer showed a hyporeflective area of the anterior surface resulting in reduced light absorption. Two mutations of the endothelin receptor type B gene were recognized in this study. The first (c.1111G>A on exon 7) leads to an amino acid change from glycine to serine at codon 371. Sanger verification revealed that this mutation is inherited from the mother. The other mutation (c.553G>A) leads to an amino acid change from valine to methionine at codon 185. Sanger verification showed that this mutation was inherited from the father. Conclusion Waardenburg syndrome shows a remarkable diversity in clinical presentation and morphology. This disease can also present with open-angle glaucoma. Sequencing analysis revealed two heterozygous mutations in the EDNRB gene in this patient, inherited from his mother and father, respectively. These two sites constitute a compound heterozygous variation.

show abstract

Choroidal thickness in Waardenburg syndrome

Cited by 3 publications

References 9 publications

Molecular and Cellular Regulations in the Development of the Choroidal Circulation System

Molecular and Cellular Regulations in the Development of the Choroidal Circulation System

Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report

Contact Info

Product

Resources

About