A 26-year-old woman presents to her primary care physician for evaluation of her vision, which has deteriorated over the last year. She has noticed increasing difficulty driving at night, especially in reading signs and detecting cars on her left or right. She has had no associated eye pain or headache. Past medical history is significant for anxiety, which is managed with counseling. Family history is significant for progressive blindness in the patient’s biological father by the age of 40. She takes no medications. Vitals are significant for a BMI of 21 kg/m2 and a blood pressure of 118/76 mm Hg. Physical examination reveals moderate, bilateral peripheral field deficits and decreased visual acuity compared to previous testing.
B) Bony spicule pigmentation with pallor of the optic disc
These findings are characteristic of retinitis pigmentosa, a disease that results in the progressive loss of rods and cones. Most cases are caused by an autosomal dominant mutation, and a family history of blindness is common. Symptoms usually begin with difficulty seeing in dim lighting such as while driving at night and progress to complete blindness.
Answer choice A: Arteriovenous nicking, silver wiring, and flame hemorrhages, is incorrect. These findings are characteristic of hypertensive retinopathy, which is highly unlikely in this patient who is normotensive. Hard exudates and cotton wool spots may also be seen.
Answer choice C: Hard exudates with capillary microaneurysms, is incorrect. These findings are characteristic of non-proliferative diabetic retinopathy. Rupture of microaneurysms may present with hemorrhage in these patients.
Answer choice D: Retinal whitening with a cherry red spot at the macula, is incorrect. These findings are characteristic of central retinal artery occlusion, which typically presents with sudden, painless vision loss (amaurosis fugax).
Answer choice E: Scattered diffuse hemorrhages with swelling of the optic disc, is incorrect. These findings are present in retinal vein occlusion and are often described as “blood and thunder.” Similar to central retinal artery occlusion, vision loss in retinal vein occlusion is painless.
Key Learning Point
Retinitis pigmentosa is characterized by progressive blindness due to loss of the rods and cones, with bony spicule pigmentation and optic disc pallor on fundoscopy. Most cases are transmitted through an autosomal dominant pattern of inheritance.
