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

Abstract

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.

Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium

“…By contrast, it is likely that choroidal melanocytes rely on Pax3 rather than Pax6 for development and/or melanogenesis, similar to neural crest-derived melanocytes in the skin and hair follicles [ 64 , 65 , 66 ]. This premise is supported by the labeling of choroidal but not RPE cells using a Pax3 -green fluorescent protein reporter in mice [ 67 ], by the identification of Pax3 but not Pax6 in the transcriptional signature of murine choroidal melanocytes [ 68 , 69 ], and by reports that PAX3 mutations in patients with Waardenburg syndrome cause choroidal hypopigmentation without affecting RPE pigmentation [ 70 , 71 , 72 ]. Pax3 was not identified among C1 marker genes ( Data S1 ).…”

Gestalt diagnosis of children with dysmorphism - Necessity for establishing genetic diagnostic approach

“…It is a rare disease, caused by the loss of pigmentary cells in the eyes, skin, stria vascular is of the cochlea and hair. 31 Several different gene mutations cause for Waardenburg syndrome.…”