A 20-year-old female had been misdiagnosed with papilledema at an outside center and was started on acetazolamide 4×250 mg daily. On presentation to our clinic, her best-corrected visual acuity was 0.7 OD and 0.65 OS with +12.50 D hyperopic refractive error in both eyes. Anterior segment examination was unremarkable, but axial length measurements were markedly reduced (16.8 mm OD / 16.9 mm OS), consistent with posterior microphthalmos. Intraocular pressures were within normal limits (22 mmHg OU).
Fundus examination demonstrated small crowded optic discs with unclear margins in both eyes, along with a thickened posterior pole and papillomacular retinal folds. Additionally, the left eye showed areas of focal retinal pigment epithelium hyperplasia superior and inferior to the optic disc.
Color fundus photograph demonstrates a crowded optic disc with a compact posterior pole and prominent radial papillomacular retinal folds showed in circle (“fingerprint” pattern), characteristic of posterior microphthalmos. The macula remains structurally preserved, while the shortened axial length contributes to the concentric corrugation of the inner retinal layers.
Fundus autofluorescence reveals optic disc drusen associated with two hyperautofluorescent foci superior and inferior to the disc.
Posterior segment OCT demonstrates absence of the normal foveal depression with a shallow foveal contour, accompanied by a radially oriented papillomacular retinal fold extending toward the optic nerve head. The fold primarily involves the inner retinal layers, while the outer retinal layers and ellipsoid zone remain structurally preserved, consistent with the mechanical redundancy of the neurosensory retina in eyes with markedly reduced axial length.
OCTA (En-face and avascular slabs) reveals two well-defined areas of abnormal flow signal near the optic disc, consistent with focal neovascularization.
The peripapillary region exhibits a focal area of abnormal flow signal that is not aligned with the normal retinal vasculature, raising suspicion of a neovascular complex.
On the structural B-scan with flow overlay, there is a distinct cluster of flow-positive signals located between the outer retina and the RPE, compatible with an outer retinal/peripapillary neovascular network (CNV) rather than a projection artifact.
Optic disc drusen (ODD) have been recognized as a potential trigger for peripapillary choroidal neovascularization (CNV), likely due to chronic axoplasmic stasis, mechanical crowding of prelaminar tissues, and focal disruption of the peripapillary Bruch’s membrane–RPE complex. These structural stresses may create microbreaks that facilitate ingrowth of neovascular tissue. Although ODD-associated CNV has been reported in otherwise anatomically normal eyes, its coexistence with posterior microphthalmos has not been documented to date. In posterior microphthalmos, the markedly reduced posterior segment volume produces additional biomechanical compression around the optic nerve head, which may further predispose to peripapillary vascular instability. The current case is notable for demonstrating both ODD and peripapillary CNV in an eye with posterior microphthalmos a combination that, to our knowledge, has not been previously described in the literature.
Credit: M. Giray Ersoz, MD, FEBO
Biruni University School of Medicine, Department of Ophthalmology, Istanbul, Turkey
Instagram accounts: @retina.review and @retina.dr.girayersoz
and Sepideh Lotfi, MD
Biruni University School of Medicine, Department of Ophthalmology, Istanbul, Turkey
Instagram accounts: @sepidls