Multimodal imaging of macular telangiectasia type 2 in a pediatric patient





Abstract


Purpose


To describe findings of multimodal imaging in non-proliferative and proliferative stages of MacTel 2 in a pediatric patient, and results of aflibercept use for treating neovascularization secondary to MacTel 2.


Methods


Retrospective case report.


Results


An 11-year-old girl with no history of systemic disease. BCVA was 20/200 and 20/40 in the right and left eyes, respectively. FFA, SS-OCT and SS-OCTA revealed proliferative and non-proliferative stages of MacTel 2 in the right and left eyes, respectively. Intravitreal aflibercept (2mg/0.05mL) was started (PRN) in the right eye. The patient received 5 injections that led to involution of macular neovascularization and improvement of BCVA by 5 lines. BCVA in the left eye remained stable.


Conclusion


MacTel 2 can develop in an earlier age than previously reported. SS-OCTA is an effective alternative to conventional imaging in diagnosis and follow-up especially in pediatric patients. Intravitreal aflibercept is effective in treating proliferative MacTel 2.


1


Introduction


Macular telangiectasia type 2 (MacTel 2) is a rare neurodegenerative disorder of the macula whose hallmark is microvascular alteration involving the superficial (SCP) and deep (DCP) retinal plexuses. MacTel 2 is notorious of its propensity to bilateral involvement and progressive course that eventually causes significant visual morbidity. Typically, MacTel 2 develops during the fifth to sixth decades of life though the literature reports MacTel 2 manifesting as early as the second decade of life. , The pathogenetic cascade leading to MacTel 2 is triggered by primary degenerative changes involving Müller cells. Continuing depletion of Müller cells results in an array of retinal structural remodeling including glial, neuronal, and retinal pigment epithelium (RPE) elements, and secondary retinal vascular remodeling. , Clinically, nascent MacTel 2 manifests as a non-proliferative disorder that shows grayish opacification of the temporal retina and progresses later on to telangiectasia and eventually foveal atrophy and scarring. Some patients progress to the proliferative stage of the disease that is marked by development of macular neovascularization and finally disciform scarring. Macular neovascularization develops secondary to boosted abundancy of free vascular endothelial growth factor (VEGF) within the retinal tissue as a sequel of Müller cells dysfunction and photoreceptors damage. To date there is no proven effective treatment to the non-proliferative stage of MacTel 2. Several studies reported the use of Anti-VEGF agents to treat macular neovascularization secondary to MacTel 2. Herein we report a case of MacTel 2 in an 11-year old girl, in which we used swept-source optical coherence tomography (SS-OCT) and optical coherence tomography angiography (SS-OCTA) to document the entire pathological spectrum of the disease from early non-proliferative stage with exudative telangiectasia through late proliferative stage with macular neovascularization and scarring. In addition, we present our experience in using aflibercept for macular neovascularization secondary to MacTel 2.


2


Case report


An 11-year-old girl with no prior history of systemic disease, presented to our clinic with complaints of diminution of vision that was more pronounced in the right eye. Best-corrected visual acuity (BCVA) was 20/200 and 20/40 in the right eye and left eye, respectively. Slit-lamp examination of the anterior segment was unremarkable bilaterally. Fundus examination in the right eye revealed irregular greenish-gray lesion occupying the macular area. Fundus fluorescein angiography (FFA); Topcon TRC 50DX fundus camera (Topcon Corporation, Tokyo, Japan) confirmed the diagnosis of subretinal neovascularization (SRN). SS-OCT; DRI OCT Triton machine version 10.11 (Topcon Corporation, Tokyo, Japan) demonstrated features suggestive of type 2 neovascular membrane. SS-OCTA [SS-OCTangio; OCTARA (Optical Coherence Tomography Angiography Ratio Analysis); Topcon Corporation, Tokyo, Japan] revealed vascular dragging of the temporal juxta-foveal SCP with abrupt ending and posterior dipping of larger vessels that could be traced to the DCP and further deep to the choriocapillaris. SS-OCTA of the outer retina slab showed hyperintense signal of active neovascular network. The fundus of the left eye revealed perifoveal grayish discoloration along with intra-retinal cyst-like cavities formation. FFA revealed dilated ectatic perifoveal capillaries that leaked in later phases of the angiogram. SS-OCT revealed intra-retinal cavitation and inner retinal schisis. SS-OCTA revealed telangiectasia in the form of budlike capillary dilatation involving the entire circumference of the perifoveal capillary network mainly located in the DCP. Figs. 1–3 . The patient had no siblings. Her parents were asymptomatic. FFA, fundus autofluorescence (FAF); Spectralis laser tomography (Heidelberg engineering, Heidelberg, Germany), SS-OCT and SS-OCTA examination of the parents revealed normal findings. We decided to observe the left eye and to start intravitreal aflibercept (2mg/0.05mL) regimen in the right eye for treating the macular neovascularization. The patient received 2 injections 6 weeks apart that resulted in significant regression of the neovascular network. BCVA improved to 20/50 and we opted for follow-up on pro re nata (PRN) regimen. Three months later she presented to our office with complaints of recent diminution of vision in the right eye. Her BCVA was 20/100. SS-OCTA revealed reactivation of the previously regressed macular neovascularization. She received three more injections of intravitreal aflibercept 4 weeks apart that resulted in regression of the neovascular network and improvement of BCVA to 20/60. Fig. 4 . Her BCVA in the right eye remained stable over the following year. BCVA of the left eye remained 20/40 despite progressive thinning of the fovea. FAF of the left eye acquired during follow-up visits revealed loss of the normal hypoautofluorescent center seen on blue-light FAF and patchy redistribution of macular pigment Figs. 5–6 .




Fig. 1


A) Color photo and FFA of an 11-year-old girl with proliferative MacTel 2 in the right eye. Macular area showed a greenish-gray sub-retinal lesion approximately ½ DD in size. Two right-angled venules with tapered tips seemed emerging abruptly from the center of the lesion (black arrows). The lesion was surrounded by grayish opacified retina. On FFA, the lesion seen in the color photo revealed early hyperfluorescence due to filling of the anastomotic vessels within the neovascular complex. Note that the right-angled venule seen in color photo did not fill up with dye in the arterio-venous phase, which denoted its origin from the retinal circulation (white arrow). Late frames demonstrated profuse leakage of the dye obscuring the lesion boundaries. B) SS-OCT of the same eye in a 9-mm radial scan mode demonstrated sub-foveal hyperreflective dome-shaped lesion above the RPE with discrete hyporeflective foci. EZ could not be identified, and continuity of ELM and IS/OS layers were lost. Central macular thickness (CMT) was 387μ. Note the typical features of sub-retinal neovascularization as PED, CME, or NSD were lacking. C) Color photo and FFA of the same patient showed non-proliferative MacTel 2 in the left eye. Macular area showed grayish opacification in the peri-foveal area with intra-retinal multiple cyst-like spaces. On FFA, early frames showed budlike dilatation of the perifoveal capillaries (inset). The foveal avascular zone (FAZ) was irregular. Late frames demonstrated increasing hyperfluorescence in the parafoveal area due to minimal leakage from dilated perifoveal capillaries (inset). D) SS-OCT in a 9-mm radial scan mode demonstrated subfoveal hyporeflective cavities in the inner retina that were traversed by hyperreflective streaks. The internal limiting membrane (ILM) remained intact. The CMT was 208μ, which indicated that these hyporeflective cavities were in fact schitic cavities that developed due to degenerative erosion of the inner retina rather than inner retinal edema. (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this article.)

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Jul 10, 2021 | Posted by in OPHTHALMOLOGY | Comments Off on Multimodal imaging of macular telangiectasia type 2 in a pediatric patient

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