Department of Ophthalmology, Lahey Hospital & Medical Center, Beth Israel Lahey Health, Peabody, Massachusetts, USA.
Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA.
Ophthalmic Genet. 2023 Apr;44(2):175-181. doi: 10.1080/13816810.2021.1961281. Epub 2021 Aug 6.
To report a rare case of Birt-Hogg-Dubé Syndrome (BHD) with progressive chorioretinopathy.
Case report.
A 55-year-old woman presented with longstanding nyctalopia attributed to a congenital retinal dystrophy, but no prior genetic testing. Her posterior pole examination demonstrated retinal pigment epithelium (RPE) mottling with extensive macular drusen and paracentral chorioretinal atrophy, consistent with a fleck retinopathy. Her past medical history was remarkable for nephrectomy for unilateral renal malignancy, parotid tumors and thyroid nodules. Dark adaptation time was prolonged, and electroretinography (ERG) revealed abnormal waveforms with depressed amplitudes. Genetic testing confirmed a deletion mutation in the folliculin () gene and was negative for other relevant mutations, including responsible for autosomal dominant macular and peripapillary drusen in Doyne honeycomb retinal dystrophy and responsible for Sorsby Fundus Dystrophy.
BHD is a rare autosomal-dominant disorder with multi-systemic clinical manifestations caused by a mutation in the gene. Affected individuals are prone to renal and pulmonary cysts, renal cancer, and fibrofolliculomas. Reports on ocular manifestations of BHD include eyelid fibrofolliculomas, flecked chorioretinopathy, choroidal melanoma, choroidal melanoma with sector melanocytosis, and retinal pigment epithelial micro-detachments. In this case of BHD, we note a fleck retinopathy with bilateral chorioretinal atrophy, displaying a phenotype of extensive chorioretinopathy associated with impaired dark adaptation and ERG abnormalities.
BHD: Birt-Hogg-Dubé syndrome; : Folliculin. RPE: retinal pigment epithelium; OD: (right eye); OS: (left eye). OU: (both eyes); ERG: electroretinogram; mfERG: multifocal electroretinography. ffERG: full-field electroretinography; FAF: fundus autofluorescence; OCT: optical coherence tomography; FA: fluorescein angiography; DA: dark-adapted; LA: light-adapted; mTOR: mammalian target of rapamycin; : epithelial growth factor-containing fibulin-like extracellular matrix protein 1; : Vacuolar Protein Sorting 13 Homolog B; : AATP/GTP-Binding Protein Like 5; : Alstrom Syndrome 1; : Collagen Type I Beta, Alpha Chain 1; : Rod Phosphodiesterase 6-alpha; : Usherin 2a; : Versican; RP: Retinitis pigmentosa; AR: Autosomal recessive.
报告一例罕见的 Birt-Hogg-Dubé 综合征（BHD）合并进行性脉络膜视网膜病变。
病例报告。
一位 55 岁女性因先天性视网膜营养不良出现长期夜间视力差，既往无遗传检测。其眼底检查示视网膜色素上皮（RPE）斑片状改变，伴广泛黄斑硬性渗出和旁中心脉络膜萎缩，符合斑状视网膜病变。其既往病史为单侧肾恶性肿瘤、腮腺肿瘤和甲状腺结节行肾切除术。暗适应时间延长，视网膜电图（ERG）显示异常波，振幅降低。基因检测证实滤泡素（）基因缺失突变，其他相关突变阴性，包括导致常染色体显性黄斑和视盘旁硬性渗出的 Doyne 蜂窝状视网膜营养不良和导致 Sorsby 眼底营养不良的。
BHD 是一种罕见的常染色体显性遗传疾病，由基因突变引起，多系统临床表现。受影响的个体易患肾和肺囊肿、肾癌和纤维毛囊瘤。BHD 眼部表现的报道包括眼睑纤维毛囊瘤、斑状脉络膜视网膜病变、脉络膜黑色素瘤、伴有扇形黑色素沉着的脉络膜黑色素瘤和视网膜色素上皮微脱离。在本例 BHD 中，我们注意到双侧脉络膜视网膜萎缩的斑状视网膜病变，表现为广泛脉络膜视网膜病变的表型，伴有暗适应受损和 ERG 异常。
BHD：Birt-Hogg-Dubé 综合征；：滤泡素。RPE：视网膜色素上皮；OD：右眼；OS：左眼。OU：双眼；ERG：视网膜电图；mfERG：多焦视网膜电图。ffERG：全视野视网膜电图；FAF：眼底自发荧光；OCT：光学相干断层扫描；FA：荧光素血管造影；DA：暗适应；LA：明适应；mTOR：哺乳动物雷帕霉素靶蛋白；：富含上皮生长因子的纤维连接蛋白样细胞外基质蛋白 1；：液泡蛋白分选 13 同源物 B；：AATP/GTP-结合蛋白样 5；：Alstrom 综合征 1；：Ⅰ型胶原α链；：视杆磷酸二酯酶 6-α；：Usherin 2a；：Versican；RP：色素性视网膜炎；AR：常染色体隐性遗传。
