Case Studies in Ophthalmology
Cases for the Ophthalmology Clerkship
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Case #30 Retinitis Pigmentosa
History
A 25 year old man had good vision up to two years ago at which time the vision gradually decreased to 20/50. In the past, he avoided going out at night and found it difficult to adjust to dim light in rooms. The family history reveals that the grandfather went blind at age 70 and the mother had severe restriction of peripheral vision at age 40. The patient’s visual field showed a ring scotoma. On ophthalmoscopy, bone spicule pigmentation was seen. The scotopic b-wave amplitude of the ERG was 70 microvolts.
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Question #1
What patterns of inheritance are observed in patients with retinitis pigmentosa?
Question #2
What percentage of patients with RP have a positive family history?
Question #3
Can carriers of X-linked RP be identified?
Question #4
What are late complications of retinitis pigmentosa?
Question #5
Is retinitis pigmentosa associated with any systemic abnormalities?
References
Berson EL: Sandberg MA, Rosner, B Birch DG, Hanson H: Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 1985; 99:240-251.
Fishman GA, Winberg AB, McMahon TT: X-linked recessive retinitis pigmentosa Clinical characteristics of carriers. Arch Ophthalmol 1986; 104: 1329-1335.