This study aims to describe an adult child and parent with cavitary optic disc anomalies (CODA) with associated serous maculopathy and a non-coding triplication upstream of MMP19. Retrospective, single-institution, observational case series. 4 eyes of 2 related patients. This retrospective chart review used electronic medical records to summarize patient medical history, ophthalmology consultations, whole genome analysis, and imaging. Descriptive analysis of multimodal imaging and genomic sequencing. Patient 1, a 23-year-old male, was referred for visual changes in the setting of paraganglioma. He had evidence of optic disc asymmetry and serous sensory retinal detachment. Whole genome analysis was positive for a triplication upstream of the MMP19 coding region associated with CODA. His mother, patient 2, a 46-year-old female with history of bilateral optic pits, was evaluated after her son was diagnosed with CODA. She had the same MMP 19 triplication. Imaging revealed evidence of resolved serous maculopathy. We describe inherited CODA with evidence of current or resolved serous maculopathy.

To report our findings in two cases of maculopathy associated with cavitary optic disc anomalies (CODAs) that were treated successfully with topical anti-glaucoma medications. Two cases of maculopathy with CODAs were treated with topical anti-glaucoma medications. The ophthalmoscopic and optical coherence tomographic images were recorded before and after beginning the anti-glaucoma medications. Both cases were young women who had a worsening of their visual acuity due to a serous retinal detachment. One woman had an optic disc pit maculopathy, and the other had a large optic disc with an atypical disc coloboma. After treatment with topical anti-glaucoma medications, the subretinal fluid was resolved in both cases and the visual acuity was improved. The improvement of the maculopathy associated with CODAs was observed after the initiation of topical anti-glaucoma eye drops. Although a spontaneous resolution cannot be excluded, these findings suggest that the decrease of intraocular pressure with anti-glaucoma eye drops may be helpful in improving the retinopathy during the follow-up period in selective cases of CODAs.

: "Congenital cavitary optic disk anomalies" is a term used to include optic disk pit (ODP), optic disk coloboma, and morning glory disk anomaly (MGDA). Imaging the radial peripapillary capillary (RPC) network in congenital optic disk anomalies with optical coherence tomography-angiography (OCTA) can shed light on its pathogenesis. This video describes the OCTA findings of optic nerve head and RPC network using the angio-disk mode in five cases of congenital cavitary optic disk anomalies. The video presents characteristic RPC network alterations in two eyes of ODP, one eye of optic disk coloboma, and two eyes of noncontractile MGDA. OCTA in ODP and coloboma shows absence of RPC microvascular network and a region of capillary dropout. This finding is in contrast to MGDA, where the microvascular network is dense. OCTA is an effective imaging modality to study vascular plexus and RPC and their alteration in congenital disk anomalies, which could provide information about the structural differences among them. https://youtu.be/TyZOzpG4X4U.

Optic disk pit, one of the optic disk cavitary anomalies, is generally congenital and unilateral and occurs equally in males and females. Optic disk pit maculopathy is characterized by intraretinal and subretinal fluid at the macula, causing visual deterioration. The origin of the macular fluid and the mechanism of transition to the subretinal space in optic disk pit maculopathy pathophysiology are not yet fully understood. With the evolution of imaging modalities, especially optic coherence tomography, our knowledge of this disorder continues to increase. Although many different treatments have been tried, there is no consensus on the most effective.

To evaluate the surgical outcomes of pars plana vitrectomy (PPV) with epipapillary membrane removal in patients with maculopathy associated with cavitary optic disc anomalies. Eight patients (8 eyes) with cavitary optic disc anomaly-associated maculopathy who underwent PPV with epipapillary membrane removal were retrospectively reviewed. The best-corrected visual acuity (BCVA) and macular and papillary morphologies using enhanced depth imaging optical coherence tomography (EDI-OCT) were evaluated before and after treatment. Immunohistochemistry for an intraoperatively excised epipapillary membrane tissue was also performed. Before surgery, EDI-OCT revealed that epipapillary membrane was observed in all patients. Retinoschisis was resolved with no recurrence in all patients following vitrectomy regardless of a disease type or the presence or absence of preoperative posterior vitreous detachment. The mean final BCVA and central retinal thickness significantly improved compared with pretreatment values (P = 0.008 and 0.004, resp.). Immunoreactivity for S100 protein and glial fibrillary acidic protein, markers of astrocytes, was positive in the resected membrane tissues. These results suggest that epipapillary membrane is involved in the pathogenesis of some patients with cavitary optic disc anomaly-associated maculopathy as well as posterior hyaloid membrane. PPV with epipapillary membrane removal may be a useful treatment option for this maculopathy. This trial is registered with UMIN000011123.