Not simply a small optic disc: Isolated optic nerve hypoplasia

IntroductionIn patients with optic nerve hypoplasia (ONH), the visualisation of the optic disc can be challenging and the definitive diagnosis difficult to ascertain without fundus photography. The use of MRI for diagnosis has been reported as a diagnostic alternative with conflicting results. We retrospectively analysed a disease registry to determine the reliability of orbital MRI measurements of the optic nerve diameter to diagnose ONH, and the correlation with vision outcomes.Materials and methodsFrom a cohort of 140 patients with ONH (13% unilateral) that had reached age 5 years, we identified 43 subjects who had orbital MRI in addition to fundus photography performed prior to 2 years of age. We compared measurements of the optic nerve diameter from orbital MRI scans to the standard relative optic disc size (disc diameter/disc-macula (DD/DM) distance) by fundus photography. All patients had visual acuity tested at age 5 years. Spearman’s correlation coefficient was used to determine the correlation of orbital MRI measurements and fundus photography with the diagnosis of ONH, and with vision outcomes.ResultsRelative disc size (DD/DM)<0.35 showed 100% sensitivity and 100% specificity for the diagnostic confirmation of ONH. The optic nerve diameter measurements by orbital MRI displayed a moderate correlation (rs=0.471; p<0.001) with DD/DM and moderate sensitivity for the diagnosis of ONH. Final visual acuity correlated well with DD/DM measurements by fundus photography (rs=−0.869; p<0.001) and moderately with optic nerve diameter by orbital MRI (rs=−0.635; p<0.001).DiscussionOrbital optic nerve diameter from MRI scans has moderate reliability in diagnosing ONH and predicting vision outcomes. Fundus photography for measurements of the optic nerve size should remain the reference for diagnostic confirmation of ONH. These data further support the prognostic value of fundus photography for eventual vision outcomes in this population.

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Septo-optic dysplasia, multiple pituitary hormone deficiency and optic nerve hypoplasia: clinical and neuroradiological characteristics

Endocrine Abstracts ◽

10.1530/endoabs.36.p76 ◽

2014 ◽

Author(s):

Maria Guemes ◽

Manuela Cerbone ◽

Tessa Kasia ◽

Louise Gregory ◽

Mehul Dattani

Keyword(s):

Optic Nerve ◽

Optic Nerve Hypoplasia ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Multiple Pituitary Hormone Deficiency ◽

Pituitary Hormone Deficiency

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Unilateral optic nerve hypoplasia in a case of septo-optic dysplasia

Journal Français d Ophtalmologie ◽

10.1016/j.jfo.2020.08.015 ◽

2021 ◽

Author(s):

R. El Hachimi ◽

S. Benchekroun ◽

R. El Hadiri ◽

L.O. Cherkaoui

Keyword(s):

Optic Nerve ◽

Optic Nerve Hypoplasia

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Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses ◽

10.3390/v13010001 ◽

2020 ◽

Vol 13 (1) ◽

pp. 1

Author(s):

Andréia Veras Gonçalves ◽

Demócrito de B. Miranda-Filho ◽

Líbia Cristina Rocha Vilela ◽

Regina Coeli Ferreira Ramos ◽

Thalia V. B. de Araújo ◽

...

Keyword(s):

Optic Nerve ◽

Viral Infections ◽

Case Series ◽

Optic Nerve Hypoplasia ◽

Endocrine Dysfunction ◽

Careful Monitoring ◽

Early Puberty ◽

Growth Impairment ◽

Appropriate Treatment ◽

The Brain

Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of endocrine dysfunction in Zika-related microcephaly. In this case series we ascertained the presence and describe endocrine dysfunction in 30 children with severe Zika-related microcephaly from the MERG Pediatric Cohort, referred for endocrinological evaluation between February and August 2019. Of the 30 children, 97% had severe microcephaly. The average age at the endocrinological consultation was 41 months and 53% were female. The most frequently observed endocrine dysfunctions comprised short stature, hypothyroidism, obesity and variants early puberty. These dysfunctions occurred alone 57% or in combination 43%. We found optic nerve hypoplasia (6/21) and corpus callosum hypoplasia (20/21). Seizure crises were reported in 86% of the children. The most common—and clinically important—endocrine dysfunctions were pubertal dysfunctions, thyroid disease, growth impairment, and obesity. These dysfunctions require careful monitoring and signal the need for endocrinological evaluation in children with Zika-related microcephaly, in order to make early diagnoses and implement appropriate treatment when necessary.

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Two-Stage Mask-RCNN Approach for Detecting and Segmenting the Optic Nerve Head, Optic Disc, and Optic Cup in Fundus Images

Applied Sciences ◽

10.3390/app10113833 ◽

2020 ◽

Vol 10 (11) ◽

pp. 3833 ◽

Cited By ~ 3

Author(s):

Haidar Almubarak ◽

Yakoub Bazi ◽

Naif Alajlan

Keyword(s):

Optic Nerve ◽

Optic Disc ◽

Optic Nerve Head ◽

Fine Tuning ◽

Fundus Images ◽

Two Stage ◽

Second Stage ◽

Retinal Fundus Images ◽

Tuning Strategy ◽

Retinal Fundus

In this paper, we propose a method for localizing the optic nerve head and segmenting the optic disc/cup in retinal fundus images. The approach is based on a simple two-stage Mask-RCNN compared to sophisticated methods that represent the state-of-the-art in the literature. In the first stage, we detect and crop around the optic nerve head then feed the cropped image as input for the second stage. The second stage network is trained using a weighted loss to produce the final segmentation. To further improve the detection in the first stage, we propose a new fine-tuning strategy by combining the cropping output of the first stage with the original training image to train a new detection network using different scales for the region proposal network anchors. We evaluate the method on Retinal Fundus Images for Glaucoma Analysis (REFUGE), Magrabi, and MESSIDOR datasets. We used the REFUGE training subset to train the models in the proposed method. Our method achieved 0.0430 mean absolute error in the vertical cup-to-disc ratio (MAE vCDR) on the REFUGE test set compared to 0.0414 obtained using complex and multiple ensemble networks methods. The models trained with the proposed method transfer well to datasets outside REFUGE, achieving a MAE vCDR of 0.0785 and 0.077 on MESSIDOR and Magrabi datasets, respectively, without being retrained. In terms of detection accuracy, the proposed new fine-tuning strategy improved the detection rate from 96.7% to 98.04% on MESSIDOR and from 93.6% to 100% on Magrabi datasets compared to the reported detection rates in the literature.

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