분자유전검사로 확진된 상염색체 우성 드루젠 = Autosomal Dominant Drusen Confirmed by Molecular Genetics

다국어 초록 (Multilingual Abstract)

Purpose: To report a case of autosomal dominant drusen confirmed by molecular genetic testing and the clinical features and findings of a multimodal diagnostic imaging study.
Case summary: A 32-year-old male presented with decreased visual acuity in his right eye from 1 year prior to his first visit. On the first visit, his visual acuities were 0.3 in the right eye and 1.2 in the left eye. A fundus examination showed numerous drusen of various sizes widely distributed on the posterior pole of both eyes, as well as subretinal fibrotic change with pigmentation in the right eye. Optical coherence tomography showed extensive hyperreflective deposits beneath the retinal pigment epithelium in both eyes and small amounts of cystic intraretinal fluid in the right eye. Fluorescein angiography and fundus autofluorescence showed the drusen as multiple hyperfluorescent spots, while indocyanine green angiography indicated hypofluorescence corresponding to the drusen. Genetic sequence analysis revealed a pathogenic variant of the EFEMP1 gene, heterozygous c.1033C>T (p.Arg345Trp), which accords with the diagnosis of autosomal dominant drusen. Intravitreal bevacizumab injection was given in the right eye; however, there was no improvement in the amount of intraretinal fluid nor visual acuity.
Conclusions: Autosomal dominant drusen is a very rare disease. It is necessary to distinguish it from age-related macular degeneration, as the affected age and clinical features of drusen are different, including the response to anti-vascular endothelial growth factor treatment.

국문 초록 (Abstract)

목적: 분자유전검사로 확진된 상염색체 우성 드루젠 1예를 경험하여 이의 임상적 특징 및 여러 진단적 이미지 검사 소견들을 보고하고자 한다.
증례요약: 32세 남성이 1년 전부터 시작된 우안 시력저하를 주소로 내원하였다. 나안시력 우안 0.3, 좌안 1.2였고, 안저검사상 양안 후극부에 광범위하게 분포한 다양한 크기의 수많은 드루젠 및 우안 황반부의 망막하 섬유화 변화와 색소침착이 관찰되었다. 빛간섭단층촬영상 양안 망막색소상피층하 광범위한 고반사 물질의 침착과 우안 소량의 망막내액이 관찰되었다. 이 침착물은 형광안저혈관조영술상 과형광, 인도시아닌그린혈관조영술상 저형광, 안저자가형광검사상 과형광 반점 소견으로 관찰되었다. 분자유전검사 결과 EFEMP1 유전자의 병원성 변이인 이형 접합 c.1033C>T p.Arg345Trp이 검출되어 상염색체 우성 드루젠으로 확진할 수 있었다. 우안 아바스틴 주입술을 시행하였으나, 주사 후 망막내액 및 시력의 호전은 없었다.
결론: 상염색체 우성 드루젠은 매우 드문 질환이나, 일반적인 나이관련황반변성과는 호발 연령 및 드루젠의 임상 양상이 다르고, 항혈관내피성장인자 치료의 반응 또한 차이를 보일 수 있어 감별이 필요하다.

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