General Management Considerations
Management of patients with retinal degeneration should include ophthalmic evaluations every 1–2 years. Follow-up visits are appropriate to address refractive management and monitor for the development of cystoid macular edema (CME), cataract, glaucoma, and retinal exudation. CME, which develops in 10%–20% of patients with retinal degenerations, especially retinitis pigmentosa, can be managed in a subset of these patients with oral and/or topical carbonic anhydrase inhibitors, such as acetazolamide (Fig 13-2) or with periocular or intravitreal steroids. Cataract surgery has a higher complication rate in part due to zonular instability. Following surgery, posterior capsular opacification and CME are more common. Assessment of optic nerve for the development of glaucoma or optic nerve head drusen (common in retinitis pigmentosa) is important. Approximately 2%–5% of patients with panretinal dystrophies will develop areas of an acquired Coats reaction (ie, hyperpermeability and exudation of the retinal vessels, which can lead to exudative retinal detachments). These areas require treatment to preserve vision.
Figure 13-2 Cystoid macular edema (CME) responsive to treatment in inherited retinal dystrophies. A, Fluorescein angiography image shows dye leakage. B, Eye of the same patient after 2 weeks of treatment with oral acetazolamide. CME related to inherited retinal dystrophies is not always evident on angiography.
(Courtesy of Michael F. Marmor, MD.)
Patients with retinal dystrophies may understandably fear that they will become blind in the near future. The clinician should help these patients understand that total blindness is an infrequent endpoint, but also that the diseases’ impact on visual function (eg, reduced visual acuity, reduced visual field) may affect their activities and quality of life. The clinician should also explain that while most patients retain vision for decades, the progression of this condition is variable, and that it is possible to adapt to the various aspects of vision loss. Patients and their family members often experience guilt or fear of passing on the condition to their progeny; they may benefit from psychological and genetic counseling. Patients with subnormal visual acuity may benefit from low-vision aids, while patients with advanced disease may need vocational rehabilitation and mobility training. The clinician should refer patients for these services before the patients are seriously limited by vision loss. To learn about the American Academy of Ophthalmology’s Initiative in Vision Rehabilitation and obtain a patient handout, visit the Low Vision and Vision Rehabilitation page on the ONE Network at www.aao.org/low-vision-and-vision-rehab.
Stem cell and gene therapies are being developed to modify the natural history of retinal and chorioretinal degenerations, or even to restore function already lost.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.