Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report / Coexistência de fosseta óptica e coloboma de íris, cristalino e coroide: um primeiro relato de caso

ABSTRACT A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.

RESUMO Uma mulher de 42 anos de idade foi internada em nossa clínica com queixa de ofuscamento em ambos os olhos. O exame biomicroscópico revelou coloboma de íris e cristalino no quadrante inferior em ambos os olhos. O exame de fundo do olho direito revelou um fosseta óptica oval e acinzentada na região inferotemporal e dois colobomas coroide no quadrante inferior. No olho esquerdo, dois colobomas de coroide foram detectados inferiormente à da cabeça do nervo óptico. Outro homem de 21 anos apresentou-se em nossa clínica para um exame oftalmológico de rotina. O exame biomicroscópico foi normal, bilateralmente. O exame de fundo do olho esquerdo revelou uma fosseta oval e acinzentada de nervo óptico óptico inferotemporal e um coloboma coroide inferior à cabeça do nervo óptico. Nestes relatos nós descrevemos fossetas ópticas ocorrendo simultaneamente com colobomas de íris, cristalino, e coroide. Com base nestes casos, o defeito no fechamento da fissura embrionária é uma provável etiologia da fosseta óptica.

Clinical Characteristics of the Congenital Optic Nerve Abnormalities

PURPOSE: To identify clinical characteristics, associated ocular and systemic abnormalities, and the visual prognosis of congenital optic nerve abnormalities. METHODS: The medical records of the patients who were diagnosed to have congenital optic nerve abnormalities between 1987 and 2001 were retrospectively reviewed. RESULTS: Of the 152 patients (M: F=92: 60, 216 eyes), 42% had bilateral abnormalities. Mean follow up period was 33 months. Percentages of the congenital optic nerve abnormalities were as follows; optic nerve hypoplasia 42%, optic disc coloboma 34%, peripapillary staphyloma 9%, morning glory disc anomaly 8%, myelinated nerve fibers 5%, and optic disc aplasia 2%. Brain MRI was done in 56 patients and abnormalities were found in 64%. Associated ocular abnormalities were found in 36% of total patients and associated systemic abnormalities were found in 26%. Refractive error, especially myopia was common. Occlusion therapy was done in 57 patients and the visual acuity of 4 patients improved after follow-up of 20 months. CONCLUSIONS: Optic nerve hypoplasia was the most common congenital optic nerve abnormality. Attention must be paid to detect the associated ocular and systemic abnormalities. Visual prognosis was generally poor, but the best-corrected visual acuity must be achieved with the correction of refractive error and occlusion therapy.