This study aimed to evaluate foveal avascular zone (FAZ) features and macular flow density (FD) in various retinal layers in a cohort of patients with foveal hypoplasia (FH) using optical coherence tomography angiography (OCTA), in order to characterize microvascular abnormalities and explore their potential clinical significance. FAZ parameters and FD, as well as retinal thickness and volume values were analyzed and compared between patients with FH and an age- and gender-matched control cohort. Correlations between disease severity and visual acuity (VA), as well as between disease severity and FAZ features were evaluated. A total of 19 eyes with FH and 19 control eyes were included. The study group showed significantly higher FD values in the foveal sectors of the superficial and deep capillary plexus compared to controls. FAZ area, perimeter, and acircularity index (ACI) were noticeably altered in eyes with FH; however, they did not correlate with disease severity. Visual acuity was negatively correlated with disease severity. The results of this study provide evidence of altered microvasculature architecture specifically in the foveal sectors of patients with FH. The higher FD values in the foveal sectors of FH patients suggest a potential compensatory response of the retinal microvasculature. FAZ parameters and FD values of the foveal sectors could be used as part of an OCTA-based grading system in FH patients.

A pathognomonic macular ripple sign has been reported with scanning laser ophthalmoscopy images in patients with foveal hypoplasia, though the optical basis of this sign is presently unknown. Here we present a case series of seven individuals with foveal hypoplasia (based on spectral domain optical coherence tomography). Each patient underwent infrared scanning laser ophthalmoscopy retinal imaging in both eyes, acquired with and without a polarization filter and assessment for a ripple-like effect in the fovea. On imaging, macular ripples were present in all eyes with foveal hypoplasia when using a polarization filter, but not when imaged without the filter. We conclude that the macular ripple sign is an imaging artifact attributable to the unique pattern of phase retardation of the Henle fiber layer in the setting of foveal hypoplasia. By utilizing a polarization filter with retinal photography, this feature can be exploited to promptly identify foveal hypoplasia in settings where OCT is not possible due to nystagmus.

This paper aims to study adaptative vascular arrangements in idiopathic fovea plana with volume-rendered optical coherence tomography angiography (OCTA). A retrospective review of two cases of idiopathic fovea plana (mean age: 26.5 years) and two age-matched controls imaged with OCTA was conducted using spectral-domain OCTA (RTVue XR Avanti, Optovue, Inc., Fremont, CA) equipped with the AngioVue software. Both en face OCTA slabs and OCTA b scans were processed through Fiji software (http://fiji.sc; software version 2.0.0-rc-68/1.52e), and then extracted as image sequences for volume rendering reconstructions using the ImageVis3D volume rendering system (3.1.0 release). Eyes with idiopathic fovea plana demonstrated a regular superficial vascular plexus connecting to a single vascular monolayer representing the deeper vascular plexuses. At this location, several vertical short path connections were demonstrated, in contraposition with normal eyes where short path connections were infrequently observed. Advances in three-dimensional OCTA reconstruction increase the understanding of vascular connections and arrangement in retinal plexuses and possible anatomical variations that cannot be detected with conventional two-dimensional b scans.

Fovea plana is a congenital condition characterized by anatomic absence of the foveal pit. It may be isolated or associated with congenital ocular anomalies. In this report, we present a case of fovea plana associated with situs inversus of the optic disc, optic disc hypoplasia, tilted optic disc, and prepapillary vascular loop and with best corrected visual acuity of 20/32. The aim of this report is to demonstrate the coexistence of very rare multiple optic disc anomalies and fovea plana, and also to emphasize that the use of multimodal imaging methods facilitates the identification of rare anomalies.

Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Case report.
We present a case of oculocutaneous albinism with bilateral atypical lamellar holes which may represent part of the spectrum of retinal abnormalities in this condition.
Optical coherence tomography can be helpful in diagnosing albinism. Variable expressivity leads to a range of macular pathology in albinism which may include atypical lamellar holes as described in this patient.

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain. The phenotype of SOD is highly heterogeneous, and the existence of at least two features is considered sufficient for diagnosis. Fovea plana is the absence of a foveal pit in the central fovea, and despite being a developmental abnormality of the fovea, good visual acuity may be retained in some individuals. In this case, a 12-year-old female presented to the ophthalmology clinic with the complaint of blurred vision in her right eye. In dilated fundus examination, optic disc hypoplasia and no foveal light reflex were seen. Magnetic resonance imaging and optical coherence tomography revealed optic nerve, brain midline, and foveal abnormalities. The patient was diagnosed as having SOD with optic nerve hypoplasia and septum pellucidum agenesis, and fovea plana. Both SOD and fovea plana are rare conditions, and there are several reports in the literature that separately describe their clinical features. The most important aspect of this case report is to reveal the unusual co-existence of SOD and fovea plana in a young patient.

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BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15. Ophthalmic manifestations of PWS include strabismus, amblyopia, nystagmus, hypopigmentation of the iris and choroid, diabetic retinopathy, cataract and congenital ectropion uvea. An overlap between PWS and oculocutaneous albinism (OCA) has long been recognized and attributed to deletion of OCA2 gene located in PWS critical region (PWCR).
METHODS: A 30-year-old male patient with PWS presented with vision loss in his left eye. His right eye had normal visual acuity. Multimodal imaging revealed absence of a foveal depression and extremely reduced diameter of the foveal avascular zone in the right eye and an inactive type 2 macular neovascular lesion in the left eye.
CONCLUSIONS: We report a presumed association of fovea plana and choroidal neovascularization with PWS. The use of multimodal imaging revealed novel findings in a PWS patient that might enrich our current understanding of the overlap between PWS and OCA.

OBJECTIVE: To describe the appearance of the superficial and deep retinal capillary plexi in three patients with fovea plana of differing severity using spectral-domain optical coherence tomography angiography (OCTA).
METHODS: In the first case of grade 1 fovea plana (a patient with 20/25 vision), OCTA showed an orderly branching pattern of vessels from the superficial and deep retinal plexi extending to the center of the fovea. The second case of grade 3 fovea plana (20/30 vision) showed some disruption of the orderly vascular pattern with small caliber vessels from both superficial and deep layers densely covering the fovea center. Case 3 represented a patient with grade 4 fovea plana associated with PAX6 mutation and poor visual acuity. OCTA revealed a disorganized pattern of large and small caliber vessels from the superficial capillary network extending into the center of the fovea.
CONCLUSIONS: Previously available imaging modalities were unable to specifically target different layers of the retinal vasculature. Using OCTA we have been able to show progressive changes in the vascular pattern in the deep and superficial retinal layers of patients with different grades of fovea plana. This novel imaging technique may play a role in the classification and assessment of patients with fovea plana.

We report the case of a 12-year-old boy with fovea plana discovered on a systematic work-up. His best-corrected visual acuity was limited to 20/25 in both eyes. Anterior segment examination showed no evidence of iris transillumination or aniridia. Macular OCT revealed persistence of the inner nuclear layers in the foveolar area and an absence of foveal pits, suggesting a diagnosis of fovea plana. Fluorescein angiography revealed that the foveal avascular zone (FAZ) was absent. OCT angiography revealed persistence of the superficial and deep capillary plexi. Our case confirms that OCT angiography affords additional insights into macular exploration and the diagnosis of fovea plana by revealing absence of the foveal pit associated with persistence of both superficial and deep capillary plexi in the foveal area.