Polypoidal choroidal vasculopathy (PCV) is a subtype of age-related macular degeneration that is seen frequently in Asians. Nevertheless, it is rare for this condition to be combined with retinitis pigmentosa (RP). The purpose of this paper is to present findings from this rare combination in a Japanese patient, and to describe its successful treatment with intravitreal aflibercept (IVA).
The patient was a 71-year-old Japanese woman with RP (diagnosed at the age of 30) and PCV. She noticed a decrease in vision in her right eye 6 months previously. Decimal best-corrected visual acuity (BCVA) was 0.05 in her right eye. Optical coherence tomography and indocyanine green angiography (IA) revealed serous retinal detachment (SRD) and PCV in her right eye. The SRD was initially resolved after 3 monthly treatments with IVA, but recurrences began 5 months later, requiring four more treatments with IVA, performed about every 4 months within the next 12 months, for successful resolution. There were no recurrences of PCV in 7 more months of follow-up, as confirmed with IA at the final appointment. Final decimal BCVA in the right eye improved to 0.15. Furthermore, macular retinal sensitivity, measured with microperimetry, increased after the treatment, and RP-related visual field narrowing, determined by Goldmann perimetry, did not progress throughout follow up of 26 months.
More than 2 years of follow up showed that IVA may be effective for treating PCV, even in RP patients, and can increase central visual function without causing progression of RP-related visual field narrowing.
Polypoidal choroidal vasculopathy (PCV) is a subtype of age-related macular degeneration (AMD) that is seen frequently in Asians. It is a severe disease that threatens central vision. Recently, treatment with anti-vascular endothelial growth factor (VEGF) drugs has been introduced to control PCV. Another retinal disease, retinitis pigmentosa (RP), is a genetic disorder that causes night blindness and concentric constriction of the visual field. Currently, there is no treatment for RP, but research is ongoing. Approaches being investigated include gene therapy, either to suppress or delay rod photoreceptor degeneration or to regenerate the outer retinal structures.
PCV is very rarely combined with RP. However, if RP patients with loss of peripheral vision develop PCV, which affects central vision, the combination can severely affect quality of vision. Therefore, treatment for PCV with anti-VEGF drugs is essential to preserve central vision. However, a search of the PubMed system revealed only one report of such a case, which was treated with the intravitreal injection of ranibizumab (IVR) and followed for about 1 year. The current report describes a case of RP combined with PCV, and describes how the patient was successfully treated with intravitreal aflibercept (IVA) during a follow-up period that lasted more than 2 years.
A 71-year-old Japanese woman presented with blurred and distorted vision in her right eye. The onset occurred six months previously and was sudden. The patient had been diagnosed with RP at the age of 30. No other members of her family had been diagnosed with RP. There was no past history of trauma, smoking, infection, consanguineous marriage, or intake of any medication for a prolonged period. At our initial examination, best-corrected visual acuity (BCVA) was 0.05 in her right eye. A fundus examination revealed retinal features typical of RP, such as bone spicule-like pigmentation and attenuated retinal vessels in both eyes ( Fig. 1 A and B). The macula of the right eye showed orange-reddish, elevated, well defined polypoidal lesions in the fovea surrounded by hemorrhage ( Fig. 2 A). Wide-field fundus autofluorescence (FAF) imaging of both eyes ( Fig. 1 C and D) showed abnormal FAF patterns of ring hyper-autofluorescence and patchy hypo-autofluorescent areas in the posterior pole and peripheral regions, respectively. Fluorescein angiography (FA) in the right eye showed faint leakage from polypoidal lesions ( Fig. 2 B). Indocyanine green angiography (IA) showed polypoidal lesions and reticulated hyper-fluorescence, indicating an abnormal choroidal vascular network ( Fig. 2 C). Laser speckle flowgraphy (LSFG) of the right eye before treatment showed reduced ocular blood flow, indicated by cooler colors in the LSFG color map ( Fig. 3 B). Optical coherence tomography (OCT) showed a serous retinal detachment (SRD), retinal pigment epithelial detachment (PED) and polypoidal lesions ( Fig. 3 A). Central choroidal thickness (CCT) was 241 μm. Goldmann perimetry (GP) examination of the overall visual field showed concentric constriction of the field bilaterally and central scotoma in the right eye ( Fig. 4 A). Microperimetry examination of the visual field in the macula, based on fundus image tracking (MP-3, Nidek Co, Japan), showed a decrease in macular retinal sensitivity ( Fig. 4 B). Based on these findings, the patient was diagnosed with PCV combined with RP.