Ocular manifestations in Gorlin-Goltz Syndrome
Gorlin-Goltz syndrome(GGR), 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.

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. 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.

In Gorlin-Goltz Syndrome, the occular system is frequently affected and that the main ophthalmological manifestations are myopia, strabismus, myelinated optic nerve fiber layers and hypertelorism.

Some ocular pathologies found in the patients of GGR, such as macular pucker, coloboma of the optic nerve, congenital cataract and strabismus can cause visual acuity reduction and visual loss. It is important to underline that maximum number of patients present some pathologies (anisometropia, strabismus, nystagmus) that can cause Amblyopia, also known as Lazy eye, which is the loss or lack of development of central vision in one eye that is unrelated to an anatomical problem and is not correctable with lenses.

Source: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1190-6
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