Ophthalmologic manifestations of Waardenburg syndrome

Astakhov, Yury S.; Тульцева, С. Н.; Lisochkina, Alla B.; Takhtaev, Yu. V.; Astakhov, Sergey Yu.; Shakhnazarova, Aida A.

doi:10.17116/oftalma201913506191

Cited by 5 publications

(6 citation statements)

References 12 publications

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“…Astakhov et al . [ 4 ] reported a case of complete bilateral iris heterochromia and impaired choroidal pigmentation, but the structural and functional properties of the retina and choroid were preserved. Liu et al .…”

Section: Discussionmentioning

confidence: 99%

Waardenburg Syndrome Type 1

Agrawal

Walia²

2022

Indian Journal of Ophthalmology

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Section: Discussionmentioning

confidence: 99%

Waardenburg Syndrome Type 1

Agrawal

Walia²

2022

Indian Journal of Ophthalmology

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“…Ophthalmological evaluation of the four types of WS reveals synophrys, ptosis, epicanthal folds, strabismus, telecanthus, iris hypopigmentation or heterochromia, high intraocular pressure, and choroidal hypopigmentation [ 21 – 25 ]. Beside iris heterochromia, WS patients show iris thickness changes in areas of hyper- and hypopigmentation [ 22 ]. Müllner-Eidenböck et al .…”

Section: Discussionmentioning

confidence: 99%

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

2022

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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.

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“…No preference • Pigmentation anomalies [181,184,185] • Poliosis [184] • Broad nasal root [187,188] • Synophrys [185] • Iris Heterochromia [181,185,186,188] • Ptosis [184,185] • Strabismus [185] • Choroidal Hypopigmentation [185,186,188] • Dystopia canthorum [181,188] • Hypertelorism, Broad nasal root [181,184] • Predominantly bilateral SNHL [192] Norrie Disease Infancy, Neonatal Male • Cognitive impairment [112] • Psychomotor retardation [121] • Autism Spectrum Disorder • Seizure Disorder [121] • Hypertelorism [193] • Narrow nasal bridge [193] • Congenital blindness [112,194] • Retinal dysgenesis [116,117] • Retinal detachment [123] • Pseudoglioma [112,195] • Cataracts [74,194] • Corneal opacities [112,113,118] • Bulbar atrophies [112,113,118] • Microphthalmia [196] • Iris hypoplasia [74] • Phthisis bulbi…”

Section: Infancy Neonatalmentioning

confidence: 99%

“…Minor criteria include skin hypopigmentation, synophrys, broad nasal root, hypoplastic nasal alae, and premature graying of the hair. [187,188] Diagnosis can be confirmed with cytogenetic testing.…”

Section: Adolescence Young Adulthoodmentioning

confidence: 99%

Ocular Manifestations in Patients with Sensorineural Hearing Loss

Parameswarappa

Zaheer

Chhablani

et al. 2022

JOVR

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(SNHL) can have a large impact on the outcome and treatment of pediatric patients. Due to the common co-incidence of ocular manifestations and SNHL in children, both ophthalmologic and hearing loss screening and routine examinations must be conducted to minimize adverse outcomes and worsening of pathology. Early evaluation and diagnosis is imperative for intervention and further development of the patient. Coincidence requires a thorough evaluation that includes a comprehensive history, examination, and diagnostic testing. In this article, a literature review was conducted to analyze the presentations of various diseases and syndromes, such as Alport Syndrome, Waardenburg Syndrome, Norrie Disease, Usher Disease, Stickler Syndrome, Marfan Syndrome, Congenital Rubella, and Hereditary Optic Neuropathies. We divided the various ocular pathologies into anterior and posterior segment presentations and associated systemic findings for better understanding. Additionally, this review aims to include an update on the management of patients with both ocular and hearing loss manifestations.

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Ophthalmologic manifestations of Waardenburg syndrome

Cited by 5 publications

References 12 publications

Waardenburg Syndrome Type 1

Waardenburg Syndrome Type 1

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

Ocular Manifestations in Patients with Sensorineural Hearing Loss

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