An Update on the Ophthalmologic Features in the Phakomatoses

Table 1

Clinical findings and diagnostic procedures in the phakomatoses.

	⁢Major ophthalmic features		Minor ophthalmic features
	Clinical findings	Diagnostic procedures	Clinical findings	Diagnostic procedures
NF1	Lisch nodules	Slit lamp examination; Anterior segment OCT; UBM	Pulsating proptosis	Slit lamp examination; Angio-MRI
	Optic pathway gliomas	MRI; Visual field examination; Optic nerve head evaluation; RNFL OCT	Microphthalmus/enophthalmos	Slit lamp examination; Ultrasound scans; MRI
	Choroidal alterations	NIR/OCT; ICGA	Upper eyelid plexiform fibroma	Slit lamp examination; Excisional biopsy/histopathology
			Conjunctival neurofibroma	Slit lamp examination; Excisional biopsy/histopathology
			Hypertrophic corneal nerves	Slit lamp examination; Confocal microscopy
			Glaucoma	Slit lamp examination; Tonometry; Gonioscopy; Visual field examination; Optic nerve head evaluation; UBM; RNFL OCT
			Microvascular retinal abnormalities	Fundus examination; NIR; FAG
TSC	Retinal astrocytic hamartomas; (elevated, transitional, smooth)	Fundus examination; FAG; OCT	Retinal pigmentary changes	Fundus examination
			Palpebral angiofibroma	Slit lamp examination; Excisional biopsy/histopathology
			Iris/choroidal coloboma	Slit lamp examination; UBM; Fundus examination
			Iris depigmentation	Slit lamp examination
VHL	Retinal capillary hemangioblastoma	Fundus examination; FAG; OCT (secondary macular edema)	—	—

FA: fluorescein angiography; ICGA: indocyanine green angiography; MRI: magnetic resonance imaging; NF1: neurofibromatosis type 1; NIR: near infrared imaging; OCT: optical coherence tomography; RNFL OCT: retinal nerve fiber layer optical coherence tomography; TSC: tuberous sclerosis complex; UBM: ultrasound biomicroscopy; VHL: Von Hippel-Lindau disease.