Multimodal ocular imaging in Proteus syndrome

Abstract

In this report we illustrate the ophthalmologic assessment of two patients affected by Proteus Syndrome (PS), an extremely rare genetic disorder. Case #1 describes a 26 year old male patient followed for multiple ophthalmic anomalies: a limbal dermoid cyst, a unilateral cataract, bilateral nystagmus, severe myopia and unilateral optic nerve head drusen. Case #2 describes a 20 year old female patient referred to our Ophthalmology Department for a routine ophthalmologic evaluation after being treated for 3 years with Miransertib (an experimental AKT-pathway inhibitor). Both patients underwent a complete ophthalmologic examination and a multimodal imaging evaluation. The multimodal imaging approach has revealed useful to evaluate both cases in detail and to keep track of disease evolution over time, moreover providing helpful features to further characterize this rare syndrome.

Keywords: Proteus syndrome; limbal dermoid cyst; miransertib; myopic chorioretinopathy; optic nerve drusen.

Figure 1.

(a) Limbal dermoid cyst in the inferotemporal quadrant in RE; (b) Peripheral superior cortical lens opacity with pigment on anterior surface of the lens in RE; (c) AS-OCT scan on the limbal dermoid cyst.

Figure 2.

(a-b) RE tangential corneal tomography and pachymetry (with detected parameters); (c-d) LE tangential corneal tomography and pachymetry (with detected parameters); (e) RE anterior segment OCT with normal features, except for temporal margin where a limbal dermoid cyst is detected; (f) LE anterior segment OCT with normal features.

Figure 3.

(a) RE fundus: severe myopic retinal-coroidosis and optic nerve drusen; (b) LE fundus: unremarkable retina, except for mild tilted optic nerve; (c-d) RE ultrasound B-Scan in 2013 and 2019: elevation of the optic nerve head (ONH) with medium reflectivity due to slightly calcified drusen; (e) Cranial CT-scan: ONH in RE slightly elevated and hyperintense compatible with mildly calcified drusen.

Figure 4.

(a-b) RE tangential corneal tomography and pachymetry (with detected parameters); (c-d) LE tangential corneal tomography and pachymetry (with detected parameters); (e-f) RE and LE Anterior Segment OCT with normal features.

Figure 5.

(a-b) RE and LE fundus with unremarkable retina; (c-f-g) ONH and RNFL OCT with normal feature in both eyes (except for RNFL symmetry); (d-e) RE and LE horizontal macular scan: physiological conformation of all macula layers.