Differences

This shows you the differences between two versions of the page.

--- optic_nerve_hypoplasia [2025/01/12 14:18] – Scott Larson
+++ optic_nerve_hypoplasia [2026/08/08 23:26] (current) – Scott Larson
@@ Line 1: / Line 1: @@
 ====== Optic Nerve Hypoplasia ======
+FIXME links
   * Abnormally small optic nerve head
   * Congenital decrease optic nerve fibers
@@ Line 28: / Line 30: @@
   * Possible persistent grey appearance of the nerve
 ===Optic Nerve Measurements===
-  * Fundus Photography
+   * Fundus Photography
-    * Ratio of Mean Disc Diameter (DD) to Macula-Disc distance (DM)
+     * Ratio of Mean Disc Diameter (DD) to Macula-Disc distance (DM)
-      * (Horizontal + Vertical Disc Diameter /2) : Distance from center of disc to the center of the macula
+       * (Horizontal + Vertical Disc Diameter /2) : Distance from center of disc to the center of the macula
-      * {{::dd-dm_ratio.png?600|DD:DM ratio measurements}}\\ from Dutton GN. Congenital Disorders of the optic nerve: excavations and hypoplasia. Eye.2004;18:1038-1048
+       * {{::dd-dm_ratio.jpg?600|DD:DM ratio measurements}}\\ from Dutton GN. Congenital Disorders of the optic nerve: excavations and hypoplasia. Eye.2004;18:1038-1048
-    * OPTOS photographs of 188 adults and children with OHN (108) compared to normals (88)
+     * OPTOS photographs of 188 adults and children with OHN (108) compared to normals (88)
-      * Normal optic nerve horizontal diameter: 1.70 mm (95% CI 1.49, 2.14)
+       * Normal optic nerve horizontal diameter: 1.70 mm (95% CI 1.49, 2.14)
-      * Hypoplasia horizontal optic nerve diameter: 1.23 mm (95% CI 0.38, 1.45)
+       * Hypoplasia horizontal optic nerve diameter: 1.23 mm (95% CI 0.38, 1.45)
-      * {{::direct_optos_nerve_size_in_optic_nerve_hypoplasia_in_alaska_2020.pdf |Arnold AW et al. Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. Clinical Ophthalmology 2020;14:491-499}}
+       * [[https://1drv.ms/b/c/31d83ae8e55e0542/ESt_2Vue-oRMuDq8pKqJrdEBpLHeUPKemCnXeNISNjZA0w?e=bKhGI1|Arnold AW et al. Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. Clinical Ophthalmology 2020;14:491-499]]
-  * Optical Coherence Tomography
+     * Optical Coherence Tomography
-    * Many commercial devices will attempt to plot the disc diameter and area
+       * Hypoplasia may be present the disc area is **<1.3 mm²**
-    * [[optic_nerve_diameter_calculator|Use this calculator to estimate the nerve diameter using the Heidelberg OCT machine optic nerve report without the glaucoma upgrade]]
+       * Many commercial devices will attempt to plot the disc diameter and area
-  * MRI
+       * [[optic_disc_area_calculator|Optic Disc Area Calculator]]
+       * [[optic_disc_area|Normal values for optic discs measured by OCT]]
+   * MRI
 =====Genetics=====
-  * 11 rare single nucleotide variants were identified in 10 persons (34%), including:
+  * 11 rare single nucleotide variants were identified in 10 persons (34%) in one 2020 study, including:
     * 2 variants in COL4A1
     * 2 variants in COL4A2
@@ Line 49: / Line 53: @@
     * 1 variant in each of OPA1 (in a patient who also had a COL4A1 variant), KIF7, SPG7, CYP26A1, and UBE3B
     * 1 copy number variant was identified in SOX5 in 1 patient
-See [[|PLoS One 2020;15(2):e0228622]]
+See [[https://pubmed-ncbi-nlm-nih-gov.slhs.idm.oclc.org/32040484/|PLoS One 2020;15(2):e0228622]]
 =====Associated Findings=====
@@ Line 63: / Line 67: @@
     * diabetes insipidus
   * olfactory hypoplasia
-===In Olmstead County, MD population===
+===In Olmstead County, MN population===
   * Premature birth- 32%
   * Maternal diabetes- 16%
@@ Line 116: / Line 120: @@
   * Suprasellar teratoma
-======References======
+======Resources======
-  * {{::incidence_and_associated_endocrine_and_neurologic_abnormalities_of_optic_nerve_hypoplasia_2013.pdf |Mohoney BG et al. Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia. JAMA Ophthalmol. 2013:131(7)898-902. }}
+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EXou7apq3NFOlZH04pdLPqQBpiYNlBt9S-WmVznFg1SnYQ?e=j3DcTE |Mohoney BG et al. Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia. JAMA Ophthalmol. 2013:131(7)898-902. ]]
-  * {{:congentital_disorders_optic_nerve_excavations_copy.pdf|Dutton GN. Disorders of the optic nerve: excavations and hypoplasia.Eye 2004;18:1038-1048}}
+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EbALeTleMYRGqziAQkiDphgB1fZLJ4kUM1l4z6GoJm9oyQ?e=zTQe6k|Dutton GN. Disorders of the optic nerve: excavations and hypoplasia.Eye 2004;18:1038-1048]]
-  * {{::direct_optos_nerve_size_in_optic_nerve_hypoplasia_in_alaska_2020.pdf |Arnold AW et al. Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. Clinical Ophthalmology 2020;14:491-499}}
+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/ESt_2Vue-oRMuDq8pKqJrdEBpLHeUPKemCnXeNISNjZA0w?e=A619Fu |Arnold AW et al. Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. Clinical Ophthalmology 2020;14:491-499]]
-  * {{::comparison_of_heidelberg_retina_tomograph_with_disc-macula_distance_to_disc_2016.pdf |Pang Y. et al. Comparison of Heidelberg Retina Tomograph with disc macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia}}
+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EQXHTUG146BNjm-6aMvfF_4BCx_ZOyFj_AXFPbXxYowuuw?e=o5KXUa |Pang Y. et al. Comparison of Heidelberg Retina Tomograph with disc macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia]]
-  * {{::clinical_and_morphologic_spectrum_of_optic_nerve_hypoplasia_1999.pdf |Hellström A. et al. The Clinical and Morphologic Spectrum of Optic Nerve Hypoplasia. JAAPOS 1999;3(4):212-20}}
+  * [[https://1drv.ms/b/c/31d83ae8e55e0542/EUP2UMLDXHRDk-qp6d_7bF8BHBrRvLUVy8jVVt2ljf9tLw?e=UDqUYw |Hellström A. et al. The Clinical and Morphologic Spectrum of Optic Nerve Hypoplasia. JAAPOS 1999;3(4):212-20]]
+{{tag>optic_disc}}

optic disc