Case history
Case history #1
A 30-year-old woman presents with difficulty driving at night and problems seeing when entering a darkened movie theater. There is no family history of eye disease. Her visual acuity is 20/20 in both eyes. A dilated exam reveals mild posterior subcapsular cataracts, a pale and waxy optic nerve head, widespread attenuation of retinal vessels, and bone spicule pigmentary changes in the mid-peripheral fundus. A visual field test reveals a ring scotoma in the mid periphery of both eyes. A diagnosis of simplex RP is made.
Case history #2
A 7-year-old boy presents with problems seeing the board in class. He already wears glasses for myopia, but his parents note that the glasses do not seem to be working as well as they used to. They also note that he has been bumping into furniture at home and is afraid to be left in the dark. Family history reveals a maternal grandparent with a history of RP. The patient's best corrected visual is 20/70 in each eye. Slit-lamp exam is unremarkable, but a dilated fundus exam reveals a waxy optic disk with a cup-to-disk ratio of 0.1. The retinal blood vessels are attenuated. In the mid periphery, the retinal pigment epithelial is atrophic and bone spicule pigmentation is prominent. Visual fields are symmetrically constricted. A diagnosis of X-linked recessive RP is made.
Other presentations
Sight loss is gradual and progressive. Reduced peripheral vision and difficulty seeing in poor light are typical symptoms. X-linked forms of the disease usually present in childhood, while autosomal recessive and dominant forms tend to present later in life.[4] A severe subtype of RP, known as Leber congenital amaurosis, can present in infancy with decreased vision, sluggish pupils, and nystagmus.[5] RP tends to be symmetric, but asymmetric presentation can be seen, especially in female carriers of an X-linked mutation. Glare from bright lights might be a problem in advanced disease.
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