Purpose: To describe a familial exudative vitreoretinopathy (FEVR) phenotype with progressive neovascularization in a full-term infant with genetically confirmed cri-du-chat (CdC) syndrome. Methods: Retrospective case report with serial examinations under anesthesia (EUA), fundus photography, and fluorescein angiography (FA). Results: A 1-year-old female with CdC due to a maternally inherited unbalanced translocation (terminal 5p deletion, terminal 10q duplication) presented with bilateral microphthalmos and a phenotype resembling FEVR. The right eye demonstrated a falciform retinal fold with extensive peripheral nonperfusion. The left eye had temporal dragging, preretinal hemorrhage, and less extensive nonperfusion. After laser photocoagulation to the left eye, the hemorrhage resolved but progressive neovascularization required additional laser treatment. The right eye remained stable. Conclusion: CdC syndrome may be associated with a FEVR-like phenotype including asymmetric peripheral nonperfusion and progressive neovascularization. Genes along the 5p locus may contribute to impaired retinal vascular development. Retinal screening with FA may be considered in CdC patients.
Purpose: The inverted internal limiting membrane (ILM) flap technique significantly improved closure rates for routine, complex, or chronic full-thickness macular holes (FTMH). However, ILM flap is still an evolving technique and postoperative complications are not well described. Methods: We report two cases of patients who underwent pars plana vitrectomy (PPV) using the inverted flap technique that subsequently developed visual disturbances associated with a mobile ILM flap. Results: Both patients reported visual disturbance, with one describing a “tentacle-like” movement in the visual field. Spectral-domain optical coherence tomography (SD-OCT) in both cases revealed mobile, partially dehisced ILM flaps over the macula. PPV was repeated with removal of the ILM flap, resulting in immediate resolution of visual symptoms. Conclusion: Symptomatic mobile ILM flaps represent an unusual and underrecognized complication of the inverted ILM flap technique.
Purpose: To characterize the natural history, clinical spectrum, and management of degenerative retinoschisis (DRS) with outer layer holes (OLHs). Methods: Retrospective case-based review combining longitudinal multimodal imaging with a literature review. Results: We followed 10 eyes from 9 patients with DRS and OLH with dynamic changes longitudinally (average 3.8 years, range 0.5-7.7 years) using serial ultra-widefield fundus imaging. Three (30%) eyes had an OLH at presentation, whereas the other 7 (70%) developed de novo OLHs between 5 months and 3.7 years after initial presentation. Of the 7 eyes that developed a new OLH, the DRS configuration remained stable in 2 eyes, enlarged in 2 eyes, flattened with clinical disappearance of the OLH in 1 eye, initially improved, then developed a combined schisis-rhegmatogenous retinal detachment (RRD) requiring vitrectomy in 1 eye, and improved with the development of a localized combined schisis-RRD requiring laser demarcation in the final eye. Of the 3 eyes with baseline OLHs, the DRS configuration remained stable but developed a new inner-layer hole at 3 years in 1 eye, completely flattened 1.5 years after presentation in another, and collapsed 7.7 years after presentation in the third eye. Conclusions: DRS with OLHs demonstrates a highly variable natural history ranging from spontaneous regression to progression requiring surgical intervention. Patients should be followed with serial multimodal imaging, reserving treatment solely for patients with combined schisis-rhegmatogenous retinal detachment. Detailed documentation with ultra-widefield fundus photography and OCT through the schisis cavity helps monitor retinoschisis anatomy to guide management decisions.
