BACKGROUND Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients. RESULTS Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients. CONCLUSIONS The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients.

中文翻译：

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Gorlin-Goltz综合征的眼部表现。

背景技术Gorlin-Goltz综合征，也称为“无基底细胞癌综合征”，是一种罕见的遗传病，以常染色体显性方式传播，具有完全的渗透性和可变的表达能力。其病因学已知的病例中有85％是由PTCH1基因中的致病变异引起的，其特征是广泛的发育异常和易患多种肿瘤。这些表现是多发性和全身性的，包括最常见的各个区域的基底细胞癌，牙源性角化肿瘤和骨骼异常。尽管有关该主题的医学文献很少，但眼部累及该综合征的频率很高且处于各种眼部结构的水平。我们的研究重点在于患有这种综合征的受试者的视觉装置及其附件，为了更好地了解该综合征如何影响眼部系统，并以更高的准确性和精确度评估该组患者的这些表现的性质。结果我们的研究证实了有关该综合征的文献中存在被普遍引用的眼部检查结果[高眼压（45.5％），先天性白内障（18％），眼球震颤（9％），肾小球瘤（9％）]并突出了斜视（63 ％的患者），视网膜上膜（36％）和有髓的视神经纤维层（36％）是该组患者中最常见的眼科检查结果。结论Gorlin-Goltz综合征中特征性和频繁的眼部症状的存在可能有助于怀疑患有该综合征但尚未诊断的受试者的诊断过程。眼科医生作为多学科团队的一员，负责管理这些患者。这些患者需要的眼科随访可以在必要时允许及时进行治疗，以改善此类患者的视觉预后。