OOMC News

A 20 year old man was referred for reduced vision with macular edema. He reports longstanding poor night vision and failed his visual driving test at age 17. There is no family history of eye disease. He is healthy and wears glasses for mild myopia. On examination, VA was OU: 20/50-. IOPs and the SLE were normal. VFs were bilaterally constricted to 12 degrees. The lenses were clear. There were a few vitreal cells OU. OCT and DFE are noted below:

Difficulty with night vision, visual field constriction, and CME are typical findings of retinitis pigmentosa (RP). Cataracts at a young age are often found as well. This patient’s symptoms are typical of this disease but the retinal examination is not. Patients with RP have peripheral RPE destruction (macula as well if advanced) with deposition of pigment in a bone-spicule pattern. Our patient has large round areas of RPE dropout for 360 degrees. These findings are consistent with the diagnosis of gyrate atrophy. Although the findings on fundus examination are dramatically different, gyrate atrophy functionally is like RP. Patients have constricted fields, CME, night blindness and early cataracts. RP can be inherited in multiple ways – gyrate atrophy is always autosomal recessive. The course is variable but most patients will have significant RPE destruction which can worsen over time. There is no specific treatment for RP or gyrate atrophy, although high doses of vitamin A palmitate (15,000 IU per day) may slow down the course and stabilize the disease. The development of CME is common and is likely due to vitreomacular traction from an adherent hyaloid and sticky vitreous. It is difficult to treat. Topical agents such as steroids, NSAIDs, and CAI’s have all been used with limited effect. Vitrectomy with membrane peel can also help in some cases. We started the patient on topical CAI (dorzolamide bid) with limited benefit (see OCT below). We will continue to observe and possibly try other agents in the future.