Delayed diagnosis of congenital optic disc abnormalities may worsen visual prognosis
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Key takeaways:
- Congenital optic disc abnormalities are often discovered late, increasing the risk for complications and poor visual prognosis.
- Researchers recommend early diagnosis and regular monitoring.
Delayed diagnosis of congenital optic disc abnormalities increases the risk for complications and may affect visual prognosis, according to a study published in the Open Journal of Ophthalmology.
“The difficulty may lie in eliminating acquired pathologies that may simulate a congenital abnormality,” researchers from the ophthalmology department at Cheikh Anta Diop University in Senegal wrote. “Their diagnosis is clinical, but the assessment must be accurate, on the one hand because of the association with extraocular anomalies and on the other hand, because there are complications that can threaten the visual prognosis and justify long-term monitoring.”
In a retrospective study, researchers identified nine patients aged 6 years and older (mean age at diagnosis, 29 years) diagnosed with congenital optic disc abnormalities from January 2020 to October 2022. Patients underwent a full ophthalmological examination with retinophotography, including OCT, ocular ultrasound and neuroimaging.
According to results, three patients had unilateral decreased visual acuity since childhood, two had sudden vision loss, and the remainder were diagnosed during screening. Visual acuity ranged from 1/200 to 20/20.
Researchers identified myelinated retinal nerve fibers in four eyes and optic disc pit in three eyes, two of which were complicated by maculopathy. They also discovered morning glory syndrome in a girl aged 8 years and a woman aged 27 years, as well as pseudoduplication of the optic disc in a woman aged 50 years, which was related to an occipital arachnoid cyst identified via brain scan.
“These malformations can be isolated or associated with other ocular and/or extraocular abnormalities, willingly neurological, thus making neuroimaging a crucial examination,” researchers wrote. “In face of these risks, ophthalmological examination should be systematic in newborns for early diagnosis and appropriate monitoring.”
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