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Ростовский Государственный Медицинский Университет

Предмет:

Медицина общая

Файл:

Illustrated Tutorials in Ophthalmology Kanski, Bolton 2001

.pdf

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28.03.2026

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Skeletal defects in NF-1


• Facial hemiatrophy	•	Mild head enlargement - uncommon
	•	Other - scoliosis, short stature, thinning of
		long bones

Orbital lesions in NF-1

Optic nerve glioma in about 15%

Spheno-orbital encephalocele

• Sagittal MRI scan of optic nerve glioma	• Axial CT scan of congenital absence of
invading hypothalamus	left greater wing of sphenoid bone
• Glioma may be unilateral or bilateral	• Causes pulsating proptosis without bruit

Eyelid neurofibromas in NF-1

Nodular

Plexiform

May cause mechanical ptosis

May be associated with glaucoma

Intraocular lesions in NF-1

Lisch nodules

Congenital ectropion uveae

Very common - eventually present	Uncommon - may be associated
in 95% of cases	with glaucoma

Choroidal naevi	Retinal astrocytomas

Common - may be multifocal	Rare - identical to those seen in
and bilateral	tuberous sclerosis

Ocular features of NF-2


Very common - presenile cataract	Common - combined hamartomas of RPE
	and retina

Tuberous sclerosis (Bournevill disease)


•	Autosomal dominant
•	Triad - mental handicap, epilepsy, adenoma sebaceum

Adenoma sebaceum		Ash leaf spots	Shagreen patches

•	Around nose and	•	Hypopigmented skin patches	•	Diffuse thickening over
	cheeks	•	In infants best detected using		lumbar region
•	Appear after age 1		ultraviolet light (Wood’s lamp)	•	Present in 40%
	and slowly enlarge		ultraviolet light (Wood’s lamp)	•	Present in 40%
	and slowly enlarge

Systemic hamartomas in tuberous sclerosis

Astrocytic cerebral hamartomas

Visceral and subungual hamartomas

•Slow-growing periventricular tumours

•May cause hydrocephalus, epilepsy and mental retardation

•Usually asymptomatic and innocuous

•Kidneys (angiomyolipoma), heart (rhabdomyoma)

Retinal astrocytomas in tuberous scleritis

•Innocuous tumour present in 50% of patients

•May be multiple and bilateral

Early


Semitranslucent nodule	White plaque

Advanced


Dense white tumour	Mulberry-like tumour

Systemic features of v-H-L syndrome

Autosomal dominant

CNS Haemangioblastoma

Visceral tumours

MRI of spinal cord tumour
	•	Tumours - renal
	•	Tumours - renal
		carcinoma and
		phaeochromocytoma
	•	Cysts - kidneys, liver,
		pancreas, epididymis,
		ovary and lungs
		Polycythaemia
Angiogram of cerebellar	•	Polycythaemia
Angiogram of cerebellar
tumour

Retinal capillary haemangioma in v-H-L syndrome

•Vision-threatening tumour present in 50% of patients

•May be multiple and bilateral

Early


Tiny lesion between		Small red nodule
arteriole and venuole		Small red nodule
arteriole and venuole

Advanced


	Round orange-red mass	Associated dilatation and
	Round orange-red mass	tortuosity of feeder vessels
		tortuosity of feeder vessels

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