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Optic pit, optic nerve pit, or optic disc pit (ODP) is rare a congenital excavation (or regional depression) of the optic disc (also optic nerve head), resulting from a malformation during development of the eye. [1] The incidence of ODP is 1 in 10,000 people with no predilection for either gender. [1]
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). Many times, de Morsier’s Syndrome or septo-optic dysplasia (SOD) is associated with ONH, however, it is possible to have ONH without any additional issues like SOD. SOD is a condition that can involve multiple problems in the midline ...
Ocular disc dysplasia is the most notable ocular defect of the disease. An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. [4] The nerve head typically resembles the morning glory disc anomaly, but has also been described as a coloboma. [4]
Coloboma of optic nerve is a rare defect of the optic nerve that causes moderate to severe visual field defects. Coloboma of the optic nerve is a congenital anomaly of the optic disc in which there is a defect of the inferior aspect of the optic nerve. The issue stems from incomplete closure of the embryonic fissure while in utero.
The morning glory disc anomaly (MGDA) is a congenital deformity resulting from failure of the optic nerve to completely form in utero. [1] The term was coined in 1970 by Kindler, noting a resemblance of the malformed optic nerve to the morning glory flower. [2] The condition is usually unilateral. [3]
Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. [3] Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often ...
Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the SEC31A gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation.