Disease manifestations: Regarding the age of diagnosis, this differs according to the intensity of the symptoms, ranging from asymptomatic to florid symptoms, characterized by ocular and systemic diseases, affecting multiple organs that have in common their origin in the neural crest. Eye manifestations: Bilateral ocular manifestations are usually pathognomonic of the disease. In the case of children who develop glaucoma, they may attend the consultation with signs and symptoms of buphthalmos, photosensitivity, tearing, corneal decompensation, which associated with poor vision, can be completed with a strabismus. In the case of the adult, there is a greater chance of not presenting symptoms, so an ophthalmological control may be required to detect the problem. Using a slit lamp, a posterior embryotoxon characterized by a prominent anteriorly displaced Schwalbe's ring near the temporal corneal limbus can be revealed. The unexpected finding of a posterior embryotoxon as a single whitish irregular arcuate ridge, on routine examination, is not necessarily a diagnosis of ARS, as this occurs in a percentage estimated in the literature from 8% to 15% of the normal population. In the case of gonioscopy, we can observe that the extension of the posterior embryotoxon can be greater and be present in the 360○, with a variable thickness of the annulus and unusually detached and hanging within the anterior chamber. Regarding the iris, we can observe peripheral extensions to Schwalbe's line, which can be thin or thick and extend over the trabecular meshwork, obscuring the scleral spur and even pulling the iris and producing corectopia in iris tissue that can range from atrophy mild stromal to the presence of uveal ectropion, pseudopolycoria or even absence of iris. These chamber sinus anomalies predispose half of the cases to open-angle glaucoma, which can manifest throughout life and therefore require regular ophthalmological check-ups. Other related anomalies are strabismus due to alteration in the insertions of the extraocular muscles or secondary to amblyopia, and with a predisposition to exotropia and retinal detachment. Systemic manifestations: In the case of pathologies that affect the extraocular organs, greater attention must be paid to anomalies in the cardiovascular system, since they represent the most worrying associations due to their repercussions at the systemic level. These are present in different structures that make it up, such as heart valve defects, the presence of Fallot's tetralogy, atrial septal defects or persistent truncus arteriosus. Other alterations described are craniofacial anomalies associated with hypoplasia of the midface, hypertelorism, telecanthus, maxillary hypoplasia, short nasolabial fold, thin upper lip and larger everted lower lip, which are typical facial characteristics although expressed in a variable way. Maxillary hypoplasia and poor tooth development produce a prognathic profile. Inspection of the oral cavity may show microdontia, hypodontia, oligodontia, and a thickened frenulum. The crowns of the anterior teeth may be conical or peg-shaped and the roots may be shortened, the gingival attachments may be reduced, and the enamel may be hypoplastic, contributing to poor dental health. There are other described associations such as umbilical, auditory, pituitary, psychomotor, size, urethral and anal anomalies as well as albinism.
Axenfeld–Rieger syndrome
Zunich–Kaye syndrome
Pelizaeus–Merzbacher disease
Kufor–Rakeb syndrome
Hurler–Scheie syndrome
TORCH syndrome
Joubert syndrome
Cornelia de Lange syndrome