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.

MACULAR DETACHMENT IN MORNING GLORY SYNDROME

Purpose:Thepurposeofthisstudyistoreportauniquecaseofmorning glorysyndrome.Methods: This study included ophthalmologic examination, opticalcoherencetomography and areviewoftherelevantliterature.Result: A 7-year-old girl with a history of morning glory syndromewas periodicallyexamined in ourclinic for5 years. Suddenly,shepresentedwiththecomplaintofdecreasedvision.Examinationsrevealed macular detachment. The visual field of the affected eye wassignificantly narrowed. OCT also revealed the presence of a fibrouscord in the centreof the optic nerve, which protruded into the vitreousbody.Discussion:Morningglorysyndromeis anuncommoncongenitaldisordercharacterizedbyawidelyenlargedpapillathatispink-orangeincolour,witha small glial tuft in thecentre. The retinalvessels are arranged radially in relation to the papilla. A pigmentedring surrounds the excavation. The incidence is not well known. Theeffectisgenerallyunilateral.Thissyndromemanifestsasopticatrophy. However, the atrophy does not progress. Visual impairmentsometimes occurs when maculardetachmentarises,as occurred inourpatient.After5yearsofobservation,ourpatient’svisiondramatically worsened as a result of macular detachment. There arevarious theories for the development of macular detachment in MGS:exudative, tractionand rhegmatogenous8.Nobreakwasfound inourpatient,sothecauseofthedetachmentwasmostlikelytheinflammatoryprocess

Bilateral Morning Glory Syndrome with Bilateral Persistent Fetal Vasculature in a Patient with Joubert’s Syndrome

Purpose. We report a case of a 1-year-old girl who was referred to us with a cerebellar anomaly and delayed growth and development for bilateral ptosis and poor fixation. Based on our ophthalmologic examination, we concluded that she has bilateral persistent fetal vasculature (PFV) with morning glory syndrome (MGS). A closer look into her neurologic condition revealed that she has Joubert’s syndrome. Observations. External examination revealed bilateral symmetrical ptosis with syndromic facies and her fundus examination revealed a large dysplastic optic disc with anomalous radiating vessels and a fibrous tissue tuft originating from the disc. The left eye showed similar findings in addition to a central excavation and a fibrovascular stalk extending from the optic disc. These findings were consistent with bilateral MGS and bilateral PFV. The brain imaging included a computed tomography scan and magnetic resonance imaging, both of which revealed a “molar tooth appearance” of the midbrain and an anomalous cerebellum suggestive of Joubert’s syndrome. Conclusions and Importance. This is the first case report of a case of bilateral MGS and bilateral PFV associated with Joubert’s syndrome. This case report documents the associated optic nerve disease in these patients, not previously described, which are additive causes of visual compromise in addition to the brain insult.