Murro Vittoria, Mucciolo Dario Pasquale, Passerini Ilaria, Palchetti Simona, Sodi Andrea, Virgili Gianni, Rizzo Stanislao
Department of Translational Surgery and Medicine, Eye Clinic, University of Florence, Largo Brambilla, 3, 50134, Florence, Italy.
Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy.
Graefes Arch Clin Exp Ophthalmol. 2017 Nov;255(11):2099-2111. doi: 10.1007/s00417-017-3751-5. Epub 2017 Jul 27.
To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns.
We retrospectively studied 11 female carriers belonging to six CHM families examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration patients with a comprehensive ophthalmological examination, fundus photography, optical coherence tomography (OCT), full field electro-retinography (ERG), and visual field (VF). All patients were screened for mutations of the CHM gene.
Fundus examination revealed retinal abnormalities in all female carriers (11/11) in the study; in particular four fundus patterns were identified: pattern A (RPE dystrophy involving only the peripheral retina), pattern B (RPE dystrophy involving the peripheral retina and the posterior pole with small hypo-pigmented RPE areas), pattern C (RPE dystrophy involving the peripheral retina and the posterior pole with small yellowish well-defined dots), and pattern D (RPE dystrophy involving the peripheral retina and the posterior pole with large hypo-pigmented RPE areas and well-defined yellowish dots). Pattern D was characterized by widespread macular subretinal drusenoid deposits (SDD). Half of the observed mutations were novel mutations. A genotype-phenotype correlation was not identified.
Retinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns have been described in this study. The recognition of specific fundoscopic patterns may permit a correct diagnosis, an appropriate molecular investigation and genetic counseling.
描述一组意大利女性脉络膜视网膜病变（CHM）携带者的临床和分子特征，并报告眼底模式。
我们回顾性研究了11名女性携带者，她们来自佛罗伦萨眼科诊所的遗传性视网膜变性区域参考中心检查的6个CHM家族。我们对患者进行了全面的眼科检查、眼底照相、光学相干断层扫描（OCT）、全视野视网膜电图（ERG）和视野（VF）检查。所有患者均接受CHM基因突变筛查。
眼底检查发现研究中的所有女性携带者（11/11）均有视网膜异常；特别是识别出四种眼底模式：模式A（视网膜色素上皮营养不良仅累及周边视网膜），模式B（视网膜色素上皮营养不良累及周边视网膜和后极，伴有小的色素减退的视网膜色素上皮区域），模式C（视网膜色素上皮营养不良累及周边视网膜和后极，伴有小的淡黄色边界清晰的点状），以及模式D（视网膜色素上皮营养不良累及周边视网膜和后极，伴有大的色素减退的视网膜色素上皮区域和边界清晰的淡黄色点状）。模式D的特征是黄斑下广泛的玻璃膜疣样沉积物（SDD）。观察到的突变中有一半是新突变。未发现基因型与表型的相关性。
在我们的女性CHM携带者中检测到视网膜营养不良和SDD，并在本研究中描述了眼底模式。识别特定的眼底镜模式可能有助于正确诊断、适当的分子研究和遗传咨询。
