Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia

Purpose: To evaluate the radial peripapillary vascular plexus of a cavitary congenital optic disc anomaly in a young patient with recessive autosomal metaphyseal acroscyphodysplasia using optical coherence tomography angiography (OCTA). Methods: Observational case report. Results: A 17-year-old man, with diagnosis of metaphyseal acroscyphodysplasia was referred to Eye Clinic for fundus examination and multimodal imaging for retinal epithelium hypertrophy in the right eye. Clinical examination showed cup-shaped metaphyses, short stature, hyperthelorism, and telecanthus. An optic disc coloboma was detected in the right eye on fundus examination. Wide field en-face Optical Coherence Tomography (OCT) showed a hyporeflective area corresponding to the right optic disc coloboma. At OCTA examination, the whole papillary region revealed a rarefaction of the vascular network, while the ganglion cell complex’s and retinal fiber layers’ parameters were normal in both eyes. Conclusion: The presence of coloboma disc congenital defect linked to embryological abnormalities during the development process could pave the way for a wider understanding of the pathogenesis of metaphyseal acroscyphodysplasia by increasingly framing it as a systemic disease.

PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma

PHACES syndrome comprises posterior fossa malformations, segmental hemangioma, arterial anomalies, cardiac defects, eye anomalies and less commonly, sternal cleft, or supraumbilical raphe. We report a case of PHACES syndrome associated with intestinal hemangioma causing recurrent intussusceptions. A full-term infant female presented at the age of three months with segmental distribution of telangiectatic patch with red swelling involving the right periorbital area, right forehead, and lips. After a full workup and evaluation, the diagnosis of PHACES syndrome was confirmed based on the presence of facial segmental hemangioma, hypoplastic right internal carotid artery, intracranial hemangioma, and right optic disc anomaly. At the time of workup, she developed typical symptoms of intussusception. Diagnostic laparoscopy was performed, and she was found to have hemangioma covering the whole ileal wall and a thickened circumferential hemangioma covering the mid ilium causing the lead point of the intussusception. Control of this patient’s hemangiomas was achieved by surgical resection of the thickened circumferential hemangioma covering the mid ilium along with oral propranolol. We reviewed the literature to explore the relationship between gastrointestinal (GI) hemangioma and PHACES syndrome and compared other associated extracutaneous hemangioma of the same series. We found 18 (58%) reported cases of GI hemangioma compared to other visceral hemangiomas on the same series of confirmed PHACE syndrome. All of the reported cases in this series present with anemia and GI bleeding except our patient who had intussusception. This might indicate the significant association of GI hemangioma as extracutaneous hemangioma in PHACES syndrome, emphasizing the importance of investigating symptomatic patients.

Role of the Epipapillary Membrane in Maculopathy Associated with Cavitary Optic Disc Anomalies: Morphology, Surgical Outcomes, and Histopathology

Purpose. To evaluate the surgical outcomes of pars plana vitrectomy (PPV) with epipapillary membrane removal in patients with maculopathy associated with cavitary optic disc anomalies. Methods. 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. Results. 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. Conclusions. 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.