Figure 31 cystoid macular edema showing the collections of fluid in the retina. large ‘cyst-like’ Figure Eye with cataracts RP and the ERG ERG can show presence of RP earlier than other findings When RP is suspected due to family history, if ERG is normal at age 6, it is unlikely that patient will develop RP Scotopic ERG is lost so early that cone ERG is often used in studies Figure Woman looking into an ERG device. Figure Drawing of how an ERG works. Retinitis Pigmentosa Inheritance modes Autosomal dominant expected to be least severe – 30% of cases Autosomal recessive expected moderate severity – 20% of cases X-Linked recessive expected to be most severe – 15% of cases Digenic rare, two different mutations combine – Figure X Chromosome. Retinitis Pigmentosa ~30% of patients with RP have no known history of it in their family Simplex - one family member w/o family history Multiplex - >1 family member w/o family history Figure Retina of a patient with RP.
Figure 31 cystoid macular edema showing the large ‘cyst-like’ collections of fluid in the retina. Figure Eye with cataracts RP and the ERG ERG can show presence of RP earlier than other findings When RP is suspected due to family history, if ERG is normal at age 6, it is unlikely that patient will develop RP Scotopic ERG is lost so early that cone ERG is often used in studies Figure Woman looking into an ERG device. Figure Drawing of how an ERG works. Retinitis Pigmentosa Inheritance modes Autosomal dominant – expected to be least severe 30% of cases Autosomal recessive – expected moderate severity 20% of cases X-Linked recessive – expected to be most severe 15% of cases Digenic – rare, two different mutations combine Figure X Chromosome. Retinitis Pigmentosa ~30% of patients with RP have no known history of it in their family Simplex - one family member w/o family history Multiplex - >1 family member w/o family history Figure Retina of a patient with RP.