To study retinal function and morphology in ABCA4 carriers to investigate if ABCA4 carriership is associated with any functional or morphological changes and, if so, to explore whether certain mutations may be associated with particularly severe alterations

Kjellström, Ulrika

PubMed

ABCA4-associated retinal degenerations are inherited as autosomal recessive traits. The most common form of the disorder is Stargardt macular dystrophy (STGD), which is typically a juvenile-onset macular degeneration presenting with central vision loss in late childhood or the early teenage years [1-3]. Usually, STGD leads to symmetric bilateral atrophy of the retinal pigment epithelium (RPE) in the fovea and posterior pole, along with orange-yellow flecks in the same areas [4]. ABCA4 mutations also can lead to cone-rod dystrophy (CRD) [5-7], a more severe form of retinal degener-ation causing reduced central vision and progressive reduction of general cone function with severe central and paracentral scotomas and reduced color vision. Eventually, rod function is also reduced, resulting in visual field constriction and night blindness [8]. In CRD, more unspecific pigmentary changes are frequently seen in the macula and mid-periphery. More seldom, ABCA4 mutations can cause autosomal recessive reti-nitis pigmentosa (arRP) [6,9,10], starting with reduced night vision combined with visual field constriction and in time also causing reduced central vision and defective color vison. Fundus changes can be typical of RP, with a pale optic nerve head, attenuated retinal vessels, and peripheral bone spicule pigmentations [11] but in some cases may be more unspecific with spread atrophies in the macula and posterior pole. It has also been discussed that some ABCA4 mutations could be important in age-related macular degeneration (AMD) [2,4]. The carrier frequency of possible disease-generating ABCA4 alleles has been found to be quite high at around 1:20 in different populations [12,13], and over 700 ABCA4 variants have been identified to date. The ABCA4 gene encodes the ABCA4 protein, which is an ATP-binding cassette (ABC) transporter protein locate

Reduced macular function in ABCA4 carriers.

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