9세 소아에서 진단된 흰점망막병증
Fundus Albipunctatus Diagnosed in a 9-year-old Female
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목적: 소아에서 발견된 흰점망막병증 증례를 문헌 고찰과 함께 보고하고자 한다. 증례요약: 만 7세 7개월인 여아에서 망막중간부와 주변부에 수많은 흰색-노란색의 반점들이 관찰되었으며, 망막전위도검사에서는 암순응 0.01 망막전위도와 암순응 3.0 망막전위도가 현저하게 감소하였다. 2년 2개월 뒤 양안 모두 망막에 색소침착이나 위축성병변은 관찰되지 않았고, 시신경유두와 혈관도 정상이었다. 시야검사에서 이상은 발견되지 않았고, 반점들은 변화가 거의 없었다. 빛간섭단층촬영검사에서 반점들이 있는 곳에서 고반사의 병변이 망막색소상피층 위쪽부터 외경계막에 걸쳐 관찰되었다. 새로 측정한 망막전위도검사에서 2년 전과 유사한 결과를 보였지만, 암순응 시간을 150분으로 늘려서 다시 시행한 결과, 암순응 0.01 망막전위도와 암순응 3.0 망막전위도가 정상 범위로 호전되었다. 결론: 흰점망막병증은 드문 질환으로, 소아에서 특징적인 안저 소견과 망막전위도검사, 장시간 암순응 후 망막전위도검사, 시야검사, 빛간섭단층촬영검사 그리고 가계도 조사 등의 결과로 흰점망막병증을 진단할 수 있었다.
Abstract
Purpose: We report a case of fundus albipunctatus discovered in a young patient. Case summary: A 7.6-year-old female showed numerous small whitish-yellow flecks in the perimacular area and retinal periphery. Dark adapted 0.01 electroretinography (ERG) and dark adapted 3.0 ERG were profoundly reduced. At 26 months after the first visit, the best-corrected visual acuities were 1.0 right eye and 0.9 left eye. There were no pigmented lesions, atrophic lesions, or vascular abnormalities in the retina. Humphrey and Goldmann visual field tests were performed, but neither of the tests revealed any scotomas or other visual field defect. The number and size of characteristic numerous small whitish-yellow retinal flecks seemed almost unchanged. In spectral domain-optical coherence tomography (SD-OCT), the subretinal hyperreflective lesions spanned the retinal pigment epithelium and the external limiting membrane. ERG showed improved dark adapted responses (dark adapted 0.01 ERG and dark adapted 3.0 ERG) after prolonged dark adaptation (2.5 hours). No family member showed any abnormal findings. Conclusions: Fundus albipunctatus is a rare disease in Koreans. We report a case diagnosed using fundus photography, SD-OCT, visual field tests, and ERG after prolonged dark adaptation (2.5 hours).
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