1Ophthalmology; Pediatrics, University of Minnesota, Minneapolis, Minnesota
AOphthalmology, BCell Biology, Neurobiology & Anatomy, COphthalmology; Cell Biology, Neurobiology, & Anatomy; Biophysics, 2Medical College of Wisconsin, Milwaukee, Wisconsin
Commercial Relationships: C.G. Summers, None; S. Ostler, None; J.T. McAllister, None; D. Tait, None; A. Dubis, None; J. Rha, None; K.E. Stepien, None; J. Carroll, None.
Support: : Albinism and Related Eye Disorders Research Fund, Minnesota Medical Foundation; unrestricted grant from Research to Prevent Blindness, Inc., NIH Grants EY001931, The E. Matilda Ziegler Foundation f
Purpose:Albinism is characterized by foveal hypoplasia, although a spectrum of development occurs in those with better VA. We sought to further study foveal morphology in individuals with albinism.
Methods:SD-OCT was used to obtain cross-sectional and volumetric images of the macula. An adaptive optics fundus camera was used to image the cone photoreceptor mosaic.
Results:Individuals with albinism had OA1 (n=2) or OCA1B (n=4). Subject age was 10 to 32 years and BCVA was 20/20- to 20/70. We found a continuum of foveal development, from nearly planar thickness to a shallow foveal depression and some excavation of inner retinal neurons, correlating with BCVA. Normal central outer and inner segment lengthening was not seen in those without a visible pit, whereas individuals with a rudimentary pit had normal outer and inner segment lengthening. Cone packing varied from normal to absence of central cone packing despite degree of foveal development and was not uniformly related to outer segment lengthening. The preferred retinal locus for fixation was temporal to the identified the foveal pit (or mounding in cases of an undeveloped pit) in 4 subjects.
Conclusions:The spectrum of foveal morphology seen in albinism involves not only the development of a foveal pit but also inner and outer segment lengthening and cone packing, perhaps determined by the gene mutation and inherent pigmentation.
Keywords: imaging/image analysis: clinical retinal development macula/fovea
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