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Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
Stephenson, Kirk A J; Paton, Katherine E; Gregory-Evans, Cheryl Y; Gregory-Evans, Kevin.
Afiliación
  • Stephenson KAJ; Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, Canada.
  • Paton KE; Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, Canada.
  • Gregory-Evans CY; Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, Canada.
  • Gregory-Evans K; Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, Canada.
Ophthalmic Genet ; : 1-5, 2024 Jun 10.
Article en En | MEDLINE | ID: mdl-38853699
ABSTRACT

INTRODUCTION:

In addition to sensorineural hearing loss, Waardenburg Syndrome (WS) may present with variable pigmentation of skin and choroid, which may simulate other life-threating conditions (e.g. melanoma). CASE REPORT Two siblings ostensibly presented with unilateral choroidal pigmentary abnormalities concerning for choroidal tumour. Serial ophthalmic examination documented no lesion growth (base or height) whilst the apparent syndromic features (i.e. iris hypochromia, profound sensorineural hearing loss, SNHL), family history (autosomal dominant inheritance) and positive genetic testing (pathogenic MITF variant) led to a revised diagnosis of Waardenburg Syndrome type 2A.

CONCLUSION:

Sectoral preservation of choroidal pigmentation in WS is rarely associated with choroidal malignancy. Awareness of syndromic features (e.g. SNHL) and access to genetic testing may facilitate early accurate diagnosis (i.e. allay concern for malignancy), enable treatment of modifiable features (e.g. SNHL) and identify other affected relatives.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido