Optic nerve compression: a rare ocular manifestation of Proteus syndrome.

Proteus syndrome is characterized by progressive, asymmetric, and distorting overgrowth that involves the skeletal, cutaneous, subcutaneous, and nervous systems. We report the case of a 10-year-old girl with Proteus syndrome and a constellation of ocular signs, including congenital glaucoma, myopia, amblyopia, strabismus, megaloglobus, epibulbar tumors, and right retinal detachment. A decrease in left eye visual acuity coupled with significant deterioration in visual evoked potential response over time prompted urgent neuroimaging, which revealed massive overgrowth of the sphenoid bone, with bilateral optic nerve compression due to optic canal stenosis. Successful removal of the roof of the optic canal along its entire course resulted in optic nerve decompression.

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.

Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

Optic Nerve Abnormalities in Morning Glory Disc Anomaly: An MRI Study.

BACKGROUND: The morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc. The association with a significant enlargement of the optic nerve has been recently reported in a few cases, raising the question of potentially associated optic nerve gliomas. The objective was to report the anatomy of optic nerves on MRI in patients with MGDA. METHODS: In this retrospective single-center study, files of patients with a clinical diagnosis of MGDA were identified through a rare disease database (CEMARA) and included. We reviewed every cerebral and orbital MRI available, performed between 2008 and 2018. Anatomy of the optic nerve from the optic disc to the chiasm was evaluated on MRI. RESULTS: Nine patients were included. All presented unilateral MGDA. Age at first MRI was 0.6-62 years, median = 3.8 years. MRI showed posterior protrusion of the globe (staphyloma) centered by the optic disc in all cases (100%). Ipsilateral optic nerve abnormalities were found in all cases (100%). The optic nerve was found thinner than the contralateral one in its intraorbital, intracanalar, and intracranial portions in 1 case (11%); in 8 cases (89%), the thickness of the optic nerve was irregular and varied along its pathway: thick, normal, and/or thin. When gadolinium injection had been performed (3 cases), none exhibited gadolinium enhancement. When serial MRI scanning was available (4 cases), there was no evolution of the abnormalities. CONCLUSION: In patients with MGDA, optic nerve and chiasm abnormalities are the rule, with most often a unique pattern of irregular optic nerve thickness-hypertrophy and hypoplasia-from the orbit to the chiasm. Such pattern should be recognized and points to a developmental abnormality, rather than an optic nerve glioma.

An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

Purpose: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye.Methods: Case reportResults: A male infant was delivered by Caesarean section at 38 weeks with a birth weight of 2040 gr and admitted to neonatal intensive care unit due to multi-systemic abnormalities. The infant had multiple congenital anomalies; a cleft palate, microcephalia, micrognathia, renal pelvicalyceal ectasia, atrial septal defect, transvers arcus hypoplasia, patent ductus arteriosus, hypospadias and undescended testicle. Fundus examination revealed optic disc coloboma of both eyes. Two weeks later, at the second examination, the left optic disc margins were indistinct with vessels radiating from the disc margins which resembles morning glory disc anomaly (MGDA). The MRI demonstrated corpus callosum agenesis and a T1 hypointense, T2 hyperintense, 12 × 9 mm optic nerve sheath enlargement in the retrobulbar area.Conclusion: The case presented here demonstrates that, the optic nerve head malformations and optic nerve sheath enlargement may be due to incomplete closure of choroidal fissure and subsequent accumulation of cerebrospinal fluid may result in a spectrum of optic nerve head malformations.

Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation.

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

BACKGROUND: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted. CASE PRESENTATION: We report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydactyly, and for the first time in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve. Array comparative genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs. CONCLUSIONS: New ocular findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported here, contributing to the phenotypic characterization of a rarely diagnosed genetic syndrome. A complete characterization of the phenotype is necessary to increase the rate of clinical suspicion and then the genetic diagnostic. In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.

Straatsma syndrome / Síndrome de Straatsma

Abstract The presence of retinal myelinated nerve fibers is not a rare finding during routine examinations, and it is usually a benign and isolated finding. However, in some rare cases, it can be associated with other ophthalmological conditions. We describe a case of a patient with the triad myelin nerve fibers, myopia and ambliopia, which configures the Straatsma Syndrome.

Resumo A presença de fibras de mielina é um achado comum durante exames oftalmológicos de rotina. Na maior parte das vezes, tem caráter beningno e é um achado isolado. No entanto, em alguns raros casos, a presença de mielinização pode estar associada a outras condições oftalmológicas. Descrevemos um caso de paciente com a tríade presença de fibras nervosas retinianas mielinizadas, miopia, e ambliopia, configurando a síndrome de Straatsma.

Non-Invasive Intracranial Pressure Evaluation in an Emergency Room ­ Point-of-Care Ultrasonography

Point-of-care ultrasound ismodifying conducts in emergency care. The variousmedical specialties, in addition to traditional indications in cases of multiple trauma, are using this technique for rapid diagnosis at the bedside without patient mobilization and without radiation. Point-of-care ultrasound in neurocritical patients, through its transorbital window, can estimate the intracranial pressure by a non-invasive method. Through the measurement of the diameter of the optic nerve sheath 3mmposterior to the retina, the intracranial pressure is estimated if the value of the diameter is >5mm, as it has been verified in other studies. The present article describes the most current data on this topic, and it also highlights the need formoremulticentric and randomized trials to determine the correct cut-off points that represent the high sensibility and specificity of the method.

Postoperative follow-up of a case of atypical morning glory syndrome associated with persistent fetal vasculature.

BACKGROUND: Morning glory syndrome is a relatively rare congenital optic disc anomaly that is often difficult to identify when associated with additional congenital ocular anomalies. This case report describes the diagnosis, treatment, and postoperative follow-up care of a young girl with morning glory syndrome accompanied by persistent fetal vasculature, retinal fold, and retinal detachment. Here, we also give a brief review of the relevant literature. CASE PRESENTATION: A 5-year-old girl was referred to our clinic for a complaint of decreased vision for 6 months in the right eye. The best corrected visual acuity was hand motion in her right eye and 0.8 in her left eye. A fundus examination indicated vitreous opacities and scattered hemorrhages, as well as striped folds in the temporal retina of the affected eye. B-ultrasound and magnetic resonance imaging scans suggested that it could be a congenital dysplasia of the right eye. Pars plana vitrectomy was performed in the right eye. Morning glory syndrome associated with persistent fetal vasculature was confirmed in subsequent follow-up observation according to the fundus appearance, optical coherence tomography, and fundus fluorescein angiography imaging. CONCLUSIONS: The patient was diagnosed as morning glory syndrome associated with persistent fetal vasculature and retinal fold. The morning glory disc with the presence of retinal folds did not seem quite typical and that made the diagnosis difficult. This report stresses the importance of considering concurrent morning glory syndrome and persistent fetal vasculature. Vitrectomy may be beneficial in the management of the morning glory syndrome and persistent fetal vasculature if accompanied by retinal detachment in similar cases.

Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408.

The authors report a case of a 6-week-old girl with microphthalmia, posterior lenticonus, persistent fetal vasculature, and coloboma of the right eye, with morning glory disc anomaly and falciform retinal folds of the left eye. Genetic testing revealed a previously unreported mutation (c.1471A>G [p.T491A]) in the gene ZNF408, which has been associated with autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:253-256.].

Peripheral Retinal Nonperfusion in Pediatric Patients With Morning Glory Syndrome.

BACKGROUND AND OBJECTIVE: To report the association of morning glory syndrome (MGS) with peripheral retinal nonperfusion in pediatric patients with MGS. PATIENTS AND METHODS: The authors retrospectively analyzed the records of pediatric patients with MGS using fundus fluorescein angiography. The peripheral retinal vascular architecture was recorded and graded according to the severity of peripheral retinal nonperfusion. RESULTS: Eighty-six eyes of 74 patients were enrolled. Seventy-three of 86 eyes (84.88%) had peripheral retinal nonperfusion, in which mild severity was found in 31 of 86 eyes (36.05%), moderate in 17 of 86 eyes (19.77%), severe in 18 of 86 eyes (20.93%), and extreme in seven of 86 eyes (8.14%). Secondary complications of nonperfusion included leakage in six of 73 eyes (8.22%), fibrovascular proliferation in two of 73 eyes (2.74%), and tractional retinal detachment in one of 73 eyes (1.34%). CONCLUSION: There is a high prevalence of peripheral retinal nonperfusion in pediatric MGS eyes, with secondary complications in some, suggesting that more attention should be paid to the peripheral retina in MGS. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:674-679.].

Septo-optic dysplasia.

A seven-month-old child with congenital poor vision was referred for evaluation. Fundus examination revealed bilateral optic nerve hypoplasia with disc macula distance of approximately ten disc diameters. Neuroimaging revealed finding consistent with septo-optic dysplasia.

RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA.

PURPOSE: To examine the relationship between retinal detachment and retrobulbar cysts in patients with optic nerve coloboma (ONC) and Morning Glory syndrome (MGS). METHODS: Patients diagnosed with either ONC or MGS were identified through a search of the Sick Kids database. Seventy-one patients either agreed to come in for a B-scan or had an incidental orbital B-scan or magnetic resonance imaging or both. Eyes with orbital B-scan ultrasound and/or magnetic resonance imaging images were assessed independently by two ophthalmologists and a radiologist for the presence of retrobulbar cysts. Retinal detachment was identified clinically with either indirect ophthalmoscopy or from fundus photographs. RESULTS: Forty-five of 71 (63%) and 26/71 (37%) patients had ONC and MGS, respectively. Retinal detachment occurred significantly more often in eyes with MGS than with ONC (9/17 [53%] vs. 5/45 [11%], P = 0.03, respectively). Retrobulbar cysts were not detected more often in MGS than in ONC (11/45 [24%] vs. 7/26 [27%]; P = 1.0). Eyes with retrobulbar cysts were significantly more likely to be associated with retinal detachment than those without (7/18 [39%] vs. 7/53 [13%]; P = 0.04). CONCLUSION: Retinal detachment occurs more frequently in MGS than in ONC in a cohort of patients referred to a specialist children's retinal service. Eyes with retrobulbar cysts are more likely to be associated with retinal detachment.

Predictive value of N95 waveforms of pattern electroretinograms (PERGs) in children with optic nerve hypoplasia (ONH).

PURPOSE: As part of a long-term, prospective study of prenatal and clinical risk factors for optic nerve hypoplasia (ONH) at Children's Hospital Los Angeles, pattern ERGs (PERGs) were evaluated for prognostic value using an automated objective and robust analytical method. METHODS: Participants were 33 children with ophthalmoscopically diagnosed ONH [disc diameter-to-disc macula ratio (DD/DM) less than 0.35 in one or both eyes on fundus photographs]. Using cycloplegia and chloral hydrate sedation in one session before 26 months of age, we recorded PERGs to checkerboard reversal using five check sizes. Participants were followed with clinical and psychometric testing until 5 years of age. PERGs were analysed using automated robust statistics based on magnitude-squared coherence and bootstrapping optimized to objectively quantify PERG recovery in the challenging recordings encountered in young patients. PERG measures in the fixating or better-seeing eyes were compared with visual outcome data. RESULTS: PERG recording was complete to at least three check sizes in all eyes and to all five sizes in 79%. Probability of recording a PERG that is significantly different from noise varied with check size from 73% for the largest checks to 30% for the smallest checks (p = 0.002); smaller waveforms were associated with earlier implicit times. The presence of significant PERGs in infancy is associated with better visual outcomes; the strongest association with visual outcome was for the threshold check size with a significant N95 component (ρ = 0.398, p = 0.02). CONCLUSIONS: Automated statistically robust signal-processing techniques reliably and objectively detect PERGs in young children with ONH and show that congenital deficits of retinal ganglion cells are associated with diminished or non-detectable PERGs. The later negativity, N95, was the best indicator of visual prognosis and was most useful to identify those with good visual outcomes (≤0.4 LogMAR). Although PERGs reflect function of the inner layers of the central retina, they lack the specificity required to determine prognosis reliably in individual cases.

[Optic nerve hypoplasia and septo-optic dysplasia]. / Optikushypoplasie und septooptische Dysplasie.

Optic nerve hypoplasia (ONH) is one of the most common causes of congenital visual impairment. It was first described in 1915 and represents a developmental disorder of the central nervous system. It is often associated with intracranial midline defects and is then referred to as septo-optic dysplasia (SOD). The symptoms of ONH range from minimal visual dysfunction to significant visual impairment with sensory defect nystagmus and even blindness. The ONH is often associated with further systemic, endocrinological and neurological abnormalities requiring a close interdisciplinary treatment of the patients.

Morning glory disc anomaly with an ipsilateral enlargement of the optic nerve pathway.

PURPOSE: To report three patients with an unilateral morning glory disc anomaly in association with an ipsilateral mild thickening of the optic nerve. METHODS: Three children with a morning glory disc anomaly underwent a magnetic resonance imaging (MRI) of the brain. Ophthalmological, genetic and MRI findings at follow-up are reported. A literature search on the association of morning glory anomaly in association with optic nerve glioma is reported.1 RESULTS: Three children with an unilateral morning glory anomaly and ipsilateral poor visual acuity were found to have an ipsilateral mild optic nerve enlargement on brain MRI. At serial MRI scanning, there was no progression of this finding. CONCLUSIONS: The morning glory disc anomaly is a rare congenital malformation of the optic disc. It can be associated with central nervous system abnormalities. The association with an optic nerve glioma has been described once before.1 Our three cases confirm the possible association between a morning glory disc anomaly and an ipsilateral optic nerve enlargement. Serial MRI showed no growth at follow-up. The awareness of this association by the ophthalmologists is important.

Bilateral Optic Disc Pits With Posterior Pituitary Ectopia.

Posterior pituitary ectopia has been reported previously in association with optic nerve hypoplasia, as a variant of septo-optic dysplasia. We describe a 14-year-old boy with posterior pituitary ectopia and bilateral optic disc pits. He had hypopituitarism and a reduction in visual acuity to 20/40 in each eye, owing to loss of foveal ganglion cells. Optic pits and posterior pituitary ectopia may have occurred together in the same subject by chance, but the rarity of both conditions suggests a possible association.