Ocular albinism with sensorineural deafness

Abstract

Ocular albinism (OA) is an inherited disorder characterized by partial or complete absence of pigment in the eyes. Ocular albinism is inherited in two patterns, X‐linked and autosomal pattern. X‐linked OA includes type I OA (Nettership‐Falls type), type II OA (Forsius‐Eriksson type), and OA with late‐onset sensorineural deafness. The other includes type III OA (autosomal recessive OA) and OA with sensorineural deafness.1 Among the subtypes of ocular albinism, OA with sensorineural deafness has characteristic clinical features: blue eyes, multiple lentigines, and congenital sensorineural deafness.2 This type of ocular albinism is an inherited autosomal dominant trait2 and is considered to be very rare. We report a 28‐year‐old female who was diagnosed with OA with sensorineural deafness.

Shroom2 (APXL) regulates melanosome biogenesis and localization in the retinal pigment epithelium

“…We have demonstrated herein that Shroom2 loss of function results in striking RPE pathologies that include hypopigmentation stemming from melanosome biogenesis and localization defects, similar to those observed in individuals with ocular albinism and mouse models (e.g. Cortese et al, 2005;Tak et al, 2004). That the locus encoding human Shroom2 lies within the genomic region associated with two distinct forms of ocular albinism suggests that Shroom2 mutations may possibly be a contributing factor in these human visual system disorders.…”

“…Mutations in the OA1 gene are thought to underlie X-linked ocular albinism, but mutations in this gene have not been identified in all individuals (Bassi et al, 1995;Schiaffino et al, 1995a;Tijmes et al, 1998). Furthermore, a second distinct human pigmentation disorder for which no causative mutations have been identified, ocular albinism with sensorineural deafness (OASD), also maps to the same region of the X-chromosome (Tak et al, 2004;Winship et al, 1993). The locus encoding human…”

Pigmentation and vision: Is GPR143 in control?

“…Another atypical cause of albinism includes defects in the gene encoding GPR143, which causes ocular albinism with phenotypic changes which primarily manifest in the eye, while other tissues are affected minimally, if at all (Oetting, Summers, & King, 1994;Rosenberg & Schwartz, 1998;Struck, 2015). The ear also contains pigmented cells, and deafness can be associated with albinism, Waardenburg syndrome for example, see Beighton et al (1991), Tak et al (2004), and Winship, Gericke, & Beighton (1984).…”