The authors sought to examine clinical correlates that may be related to foveal development in albinism with an aim to qualitatively describe the phenotype spectrum of albinism. Binocular best corrected visual acuity ranged from 20/20 to 20/80. Best corrected visual acuity of the imaged eye ranged from 20/20 to 20/100. All had positive angle kappa and eight had a temporal preferred retinal fixation locus. Worse visual acuity was associated with larger angle kappa. Four patients with visual acuity of >20/40 had no nystagmus. Ten had various forms of nystagmus. Five had granular melanin pigment in the macula and all of these had visual acuity >20/40. Four had macular melanin pigmentation and a foveal avascular zone – three with a rudimentary annular reflex. Three had granular macular pigmentation and normal inner / outer segment lengths with indistinct foveal pit. The authors conclude there is a spectrum of best corrected visual acuities, clinical and imaging findings in albinism. Retinal thickness does not correlate with best corrected visual acuity.

Clinical insights into foveal morphology in albinism.
McCafferty BK, Wilk MA, McAllister JT, et al.
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Fiona Rowe (Prof)

Institute of Population Health, University of Liverpool, UK.

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