| Summary: | Kosuke Abe,1,2 Jumi Shirane,2 Masuo Sakamoto,1 Fumi Tanabe,1 Kazuki Kuniyoshi,1 Chota Matsumoto,1 Yoshikazu Shimomura11Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama, Osaka, Japan; 2Nara Hospital, Kinki University Faculty of Medicine, Ikoma, Nara, JapanBackground: Congenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT) at the fixation point in a case of bilateral macular coloboma.Case report: The subject is a 4-year-old boy. He visited our hospital at age 1 year and 4 months for the evaluation of strabismus. The fundus examination of both eyes showed round-shaped sharply-demarcated atrophic lesions involving the macula with large choroidal vessels and bared sclera at the base. Immunologic tests including toxoplasmosis, rubella, varicella, herpes virus, and human T-cell leukemia virus were all negative. At age 4 years and 1 month, cycloplegic refraction showed insignificant refractive errors and his best corrected visual acuity was 0.6 bilaterally. The SD-OCT showed a crater-like depression accompanying atrophic neurosensory retina, and the absence of retinal pigment epithelium and choroid. Examination of the fixation behavior by visuscope showed steady fixation with an area 0.5° nasal to the nasal edge of the atrophic lesion bilaterally. The SD-OCT findings at fixation area showed remaining normal retinal structures involving inner segment-outer segment (IS/OS) junction line.Conclusion: The findings of SD-OCT have been shown to be useful in the diagnosis of macular coloboma. In the fixation point, the structure of retina and choroid were well preserved.Keywords: pediatric macular disease, macular structure, strabismus
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