Morning Glory Disc Anomaly or Optic Disc Coloboma?

Congenital anomalies of the optic nerve head are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause visual impairment. Retinal detachment commonly occurs in association with congenital anomalies of the optic disc, including morning glory disc anomaly, optic disc pit, optic disc coloboma, peripapillary staphyloma, and Aicardi syndrome. Notably, visual impairment and retinal detachment may not be the only problem in these patients, some of these entities will be related to neurologic and systemic features, which sometimes may be life-threatening. This review presents an overview of the clinical features of these optic disk anomalies and current therapeutic approaches for the treatment of retinal detachment associated with them.

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A case of anterior persistent hyperplastic primary vitreous associated with morning glory disc anomaly and retinopathy of prematurity like retinopathy in a term-born child

BMC Ophthalmology ◽

10.1186/s12886-021-02200-1 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Hao Zhang ◽

Kaiqin She ◽

Fang Lu

Keyword(s):

Birth Weight ◽

Optic Disc ◽

Retinopathy Of Prematurity ◽

High Sensitivity ◽

Normal Weight ◽

Term Infant ◽

Morning Glory ◽

Normal Birth ◽

Persistent Hyperplastic Primary Vitreous ◽

Morning Glory Disc Anomaly

Abstract Background Association of morning glory disc anomaly (MGDA) with persistent hyperplastic primary vitreous (PHPV) has been reported earlier. Retinopathy of prematurity (ROP) like retinopathy in preterm babies with optic disc anomalies has also been published. Our case is unique in terms of presence MGDA, PHPV, unilateral ROP like retinopathy in a term infant with normal birth weight. Case presentation A 5-month-old girl, born at term with a birth weight of 3750 g, presented with anterior PHPV, MGDA and ROP like retinopathy. In order to prevent retinal detachment, she received 360 degree barrage laser photocoagulation at the edge of the optic disc excavation of the left eye. In the follow-up a month later, laser scars were found in her left fundus without other complications. Conclusion PHPV and MGDA with ROP like retinopathy in term and normal weight baby is rare. The peripheral avascular retinal area, caused by the dragging of the defected optic disc, might have been more vulnerable to the oxygen change after birth which resulted in ROP like retinopathy. High sensitivity to oxygen results in a series of changes such as upregulation of VEGF and IGF-1 may cause ROP-like retinopathy.

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Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma

European Journal of Ophthalmology ◽

10.1177/1120672121992686 ◽

2021 ◽

pp. 112067212199268

Author(s):

Jorge Fernández-Engroba ◽

Muhsen Saman ◽

Jeroni Nadal

Keyword(s):

Visual Acuity ◽

Retinal Detachment ◽

Optic Disc ◽

Subretinal Fluid ◽

Visual Outcome ◽

Internal Limiting Membrane ◽

Subretinal Space ◽

Direct Closure ◽

Retinal Tears ◽

Optic Disc Coloboma

Purpose: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC). Methods: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity. Results: After only 1 week, the OCT revealed the ILM graft plugging the retinal tear with complete resorption of subretinal fluid. The sealing effect of this graft persisted after 6 months. However, visual outcome was poor and corrected distance visual acuity was 20/200 as a result of the previous long-standing retinal detachment with loss of photoreceptors. Conclusion: We suggest that ILM graft could be performed as a first line treatment in the management of RRD secondary to ODC. This direct closure of the retinal tears, allows a quick and effective interruption of the communication between the subretinal space and the vitreous cavity. Detecting these retinal tears and applying this technique as soon as possible could achieve not only an earlier anatomical success but obtain good visual results in retinal tears with RRD secondary to ODC. Further studies will be necessary to provide more evidences

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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

Neurological Sciences ◽

10.1007/s10072-021-05221-2 ◽

2021 ◽

Author(s):

Marco Pavanello ◽

Pietro Fiaschi ◽

Andrea Accogli ◽

Mariasavina Severino ◽

Domenico Tortora ◽

...

Keyword(s):

Surgical Management ◽

Missense Variant ◽

Morning Glory ◽

Morning Glory Disc Anomaly ◽

Long Term Follow Up ◽

Indirect Revascularization ◽

Peripapillary Retina

AbstractMorning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

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