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Cited by 4 publications
(3 citation statements)
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“…Congenital optic disc pits are seen alone or occasionally in combination with optic disc colobomas [10]. Previous case reports have described concomitant coloboma and optic disc pit in the same eye [11, 12]. In fact, incomplete development closure of the embryonic fissure might explain the coexistence of optic pits and colobomas as we found in the left eye of our patient.…”
Section: Discussionsupporting
confidence: 63%
“…Congenital optic disc pits are seen alone or occasionally in combination with optic disc colobomas [10]. Previous case reports have described concomitant coloboma and optic disc pit in the same eye [11, 12]. In fact, incomplete development closure of the embryonic fissure might explain the coexistence of optic pits and colobomas as we found in the left eye of our patient.…”
Section: Discussionsupporting
confidence: 63%
“…Colobomas of the iris are closure defects of embryonic fissures that can occur in the fifth week of gestation. ey often appear in the lower nasal quadrant and can be either isolated or associated with colobomas of the lens, choroid, and optic nerve [40,41]. Prior to this study, WFS1 p.C505S had not been reported in association with the iris coloboma phenotype.…”
Section: Journal Of Ophthalmologymentioning
confidence: 94%
“…Optic disc coloboma can cause abnormal visual fields[ 4 - 6 ]. The author found that optic disc coloboma is related to serous macular retinoschisis, which is similar to optic disc pit-related macular serous retinoschisis[ 7 - 9 ]. The literature regarding optic disc coloboma associated with macular retinoschisis is limited.…”
Section: Introductionmentioning
confidence: 99%