A hybrid coloboma and optic disc pit associated with macular retinoschisis

Abstract

BackgroundTo report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye.Case presentationA 21-year-old woman presented with optic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left eye. Macular spectral domain optical coherence tomography (SD-OCT) of the left eye revealed macular retinoschisis, without serous detachment.ConclusionsProper monitoring of patients with disc anomalies associated with maculopathy is mandatory. The use of OCT imaging during follow-up can help to identify involvement of the fovea or enlargement of the retinoschisis area.

Optic Disk Coloboma and Contralateral Optic Disk Pit Maculopathy Treated by Vitrectomy in a Patient With Noonan Syndrome With Multiple Lentigines

“…Slusher et al 6 described a myriad of morphologic optic disk variations in a family of 35 members spanning five generations with an autosomal dominant inheritance pattern: ODC, ODP, and morning glory syndrome. The rare coexistence of ODP in one eye and ODC in the other eye has been described by Abe et al 7 In their report, ODC was associated with macular retinoschisis without serous detachment and did not require treatment.…”

Laser Photocoagulation for the Treatment of Optic Nerve Head Pit–related Maculopathy in a Patient With Bilateral Chorioretinal Coloboma

“…1 Chorioretinal colobomas are not commonly present with an optic nerve head pit, but have been previously reported. 2,3 These two rare entities are believed to originate from incomplete optic fissure closure during ocular embryogenesis. 2,4…”

“…2,3 These two rare entities are believed to originate from incomplete optic fissure closure during ocular embryogenesis. 2,4…”

“…1 Chorioretinal colobomas are not commonly present with an optic nerve head pit, but have been previously reported. 2,3 These two rare entities are believed to originate from incomplete optic fissure closure during ocular embryogenesis. 2,4 Optic nerve head pit can be complicated by serous maculopathy or retinal detachment, 5 whereas chorior-etinal coloboma can be complicated mainly by rhegmatogenous retinal detachment or choroidal neovascularization.…”

“…2,3 These two rare entities are believed to originate from incomplete optic fissure closure during ocular embryogenesis. 2,4 Optic nerve head pit can be complicated by serous maculopathy or retinal detachment, 5 whereas chorior-etinal coloboma can be complicated mainly by rhegmatogenous retinal detachment or choroidal neovascularization. 6,7 Management of serous maculopathy in the presence of these two entities can be challenging.…”