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Fig. 9.2. Pattern and flash ERGs in a normal subject (N), in a 2-year-old patient with complete CSNB (A), in a 6-year-old patient with Leber congenital amaurosis (B), in a 1-year-old monochromat (C) and in a 7-year old patient with X-linked retinoschisis (D). All recordings were taken with surface eyelid electrodes apart from the PERG in patient D,which was obtained using gold foil corneal electrodes. Comparison of A with Fig. 9.4A and C with Fig. 9.5C demonstrates the qualitative similarity of surface and corneal recordings. See text for details

Fig. 9.3. Typical findings in a normal subject (N) and and normal visual acuity (6/9). In patient B (aged in four patients with rod-cone dystrophy. Maximum 11 years), PERG P50 component and visual acuity are

ERG a-waves are reduced, consistent with rod pho- mildly reduced (6/12). In C (aged 10 years) PERG 50 is toreceptor dysfunction. Photopic ERGs are reduced severely reduced, consistent with severe macular in-

and delayed, indicating significant but less severe cone volvement and significant visual acuity impairment system dysfunction. Pattern ERGs in patient A (aged (6/60). The ERG findings in patient D (aged 7years),

9 years) are normal, in keeping with macular sparing with X-linked disease, are typically severe

Fig. 9.3. Typical findings in a normal subject (N) and and normal visual acuity (6/9). In patient B (aged in four patients with rod-cone dystrophy. Maximum 11 years), PERG P50 component and visual acuity are

ERG a-waves are reduced, consistent with rod pho- mildly reduced (6/12). In C (aged 10 years) PERG 50 is toreceptor dysfunction. Photopic ERGs are reduced severely reduced, consistent with severe macular in-

and delayed, indicating significant but less severe cone volvement and significant visual acuity impairment system dysfunction. Pattern ERGs in patient A (aged (6/60). The ERG findings in patient D (aged 7years),

9 years) are normal, in keeping with macular sparing with X-linked disease, are typically severe most hemizygotes. ADRP is more often associated with a milder clinical course and less severe ERG changes in affected children. Autosomal recessive RP is very heterogeneous and both severe and mild variants are seen.

RP of varying severity is associated with syndromic disorders such as Bardet-Biedl (BBS) and Usher syndromes, although a cone-rod pattern of dysfunction can occur in BBS [35]. Full-field ERGs in Usher syndrome are typically markedly abnormal [24].

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