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hereditary_optic_neuropathies [2017/02/20 01:52] – [Hereditary Optic Neuropathies without other systemic signs] hstiffhereditary_optic_neuropathies [2025/04/18 20:40] (current) – external edit 127.0.0.1
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   * symmetric, bilateral, painless, usually permanent, central visual loss   * symmetric, bilateral, painless, usually permanent, central visual loss
   * affects papillomacular nerve fiber bundle -> central/cecocentral scotomas   * affects papillomacular nerve fiber bundle -> central/cecocentral scotomas
 +  * May present with other ophthalmologic, neurologic, or systemic symptoms/signs/diseases such as hearing loss, ophthalmoplegia, cataracts, myopathy, diabetes mellitus, paraplegia, skin abnormalities, ataxia
 ===== Differential ===== ===== Differential =====
 +==== Optic Neuropathies WITHOUT other systemic signs ====
 +
   * Leber Hereditary Optic Neuropathy   * Leber Hereditary Optic Neuropathy
     * point mutations in mitochondrial DNA, predominately males age 15-35, second eye affected within 1 year of first eye affected, pseudoedema and optic atrophy can be seen on exam     * point mutations in mitochondrial DNA, predominately males age 15-35, second eye affected within 1 year of first eye affected, pseudoedema and optic atrophy can be seen on exam
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   * Autosomal Recessive Optic Atrophy   * Autosomal Recessive Optic Atrophy
     * discovered before 3-4 years old, consanguinity between parents, severely reduced visual acuity (may have sensory nystagmus), optic discs atrophic and deeply cupped     * discovered before 3-4 years old, consanguinity between parents, severely reduced visual acuity (may have sensory nystagmus), optic discs atrophic and deeply cupped
 +===== References =====
 +Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, Fifth Edition. //Hereditary Optic Neuropathies// Chapter 54, 581-591