27 X-Linked Retinoschisis
FIGURE 27.1 Fundus photographs showing the typical presentation of XLRS. Left panel: Affected male with spoke–wheel pattern of foveal cysts. Right panel: Affected male with “vitreous veils” of the inferonasal quadrant,…
22 Retinitis Pigmentosa Syndromes: Bardet-Biedl
BBS, Bardet-Biedl syndrome; RP, retinitis pigmentosa; MKS, Meckel-Gruber syndrome; LCA, Leber congenital amaurosis. Clinical Symptoms and Signs The age of onset of BBS is at conception, when a fetus inherits…
15 Genetic Counseling for Retinal Diseases
FIGURE 15.1 Inheritance patterns for genetic conditions with Mendelian inheritance. This image is a work of the National Institutes of Health, part of the United States Department of Health and Human…
37 Retinal Transplantation and the Role of Human Retinal Progenitor Cells in Retinal Diseases
FIGURE 37.1 Morphology. A: Cellular aggregates at isolation following enzymatic dissociation. B: Cells at P1 showing the monolayer population comprised of rounded cobblestone (red arrow), polarized (black arrow), and very small…
19 Stargardt Disease/Fundus Flavimaculatus
FIGURE 19.1 Scanning electron micrograph of an RPE monolayer from a patient with STGD1/FF. Note the marked heterogeneity of the RPE cells engorged with lipofuscin. Aggregates of engorged cells may correspond…
11 Spectral Domain Optical Coherence Tomography in Infants and Children
FIGURE 11.1 A: SD-OCT image of the foveal center of a 46-week-old (corrected age) male infant born with a birth weight of 1,250 g and 31 weeks of gestation. The layers…
25 Genetic Mutations and Related Protein Function
FIGURE 25.1 Schematic diagram of a photoreceptor and RPE cells showing many of the cellular pathways and processes associated with retinal degenerative diseases in these cells. Stgd1MD, autosomal recessive Stargardt macular…
