ocular albinism with late-onset sensorineural deafness (OASD)

Introduction

How does this differ from ocular albinism type 1 ?

Pathology

• macromelanosomes on skin biopsy

Genetics

• X-linked, Xp22.3
• mutations in gene for TBL1X
• mutations in gene for GPR143

Clinical manifestations

• ocular albinism
• sensorineural deafness

More general terms

• genetic disease of the eye
• genetic disease of the auditory system

Additional terms

• albinism; leucopathy
• F-box-like/WD repeat-containing protein TBL1X; SMAP55; transducin beta-like protein 1X; transducin-beta-like protein 1, X-linked (TBL1X TBL1)
• G protein-coupled receptor 143 (ocular albinism type 1 protein, GPR143, OA1)
• sensorineural hearing loss

Database

• OMIM: https://mirror.omim.org/entry/300650