ophthalmology residents

1. Othman Al-Abbadi, M.D

2.  A group of independent clinical syndromes
characterized by multiple tumors, some of
which are or can become malignant, arising in
disparate organs of the body
 These disorders produce significant visual and
neurologic disturbances.

3.  It’s a neuro-oculo-cutaneous syndromes
 Multisystem disorders that have characteristic
CNS, ocular & cutaneous lesions of variable
severity
 Tissues involved share ectodermal origin to
some degree

4.  The term, from the Greek φακός, phakos, "spot,
lens", suffix-(o)ma (-ωμα) and the suffix -osis,
also called "Mother's spot" or "Birth mark" was
introduced by Jan van der Hoeve in 1923,
before the distinct genetic basis of each of these
diseases was understood.

7.  Neuroectodermal tumors arising within
multiple organs
 Autosomal dominant inheritance.
 Males & females affected equally
 No racial predilection

8.  Von Recklinghausen’s neurofibromatosis
 Classic neurofibromatosis
 Peripheral neurofibromatosis
 The most common type of the two affecting 1/
(3500-4000)
 Abnormal long arm of chromosome 17

9.  Characterized by
 café au lait spots,
 axillary and inguinal freckling,
 Lisch nodules of the iris,
 several types of cutaneous neurofibromas,
 optic nerve gliomas,
 neurofibromas of the CNS

10.  Six or more café au lait spots larger than 1.5 cm
in diameter are generally considered diagnostic
of NF-1.
 Axillary and inguinal freckling are present in
about 90% to 95% of affected individuals.
 Congenital or infantile glaucoma appears to be
more common in patients with this syndrome.
 Some affected patients develop multifocal
bilateral melanotic fundus lesions as a feature
of the syndrome

12.  Melanocytic hamartomas of the iris stroma
 present in over 95% of adult patients
 appear as tan to light brown nodules studding
the surface of the iris
 Rarely if ever present at birth but tend to
develop by the second to third decades of life
in almost all persons with NF-1

13.  Present in 10-15%
 The optic nerve gliomas in NF-1 tend to cause
proptosis and optic atrophy in early childhood.
 Sometimes bilateral
 Occasionally arise from the optic chiasm or
tracts instead of the optic nerves proper

15. Postcontrast T1W axial MRI image of the orbits (A) shows an
enhancing mass (thick small arrows) around the left optic nerve.
The optic nerve (thin long arrow) itself is not enlarged and is
nonenhancing. This is suggestive of a mass, such as a
meningioma, arising from the optic nerve sheath. Axial T2W
MRI image of the orbits in a different patient (B) shows fusiform
enlargement of the left optic nerve itself (arrows), in a case of
optic nerve glioma

16.  Central neurofibromatosis
 Affecting 1/50.000
 Abnormal long arm of chromosome 22
 Typified by bilateral acoustic neuromas and
widely scattered neurofibromas, meningiomas,
gliomas, and schwannomas.
 The most consistent problem suffered by patients
with NF-2 is sensorineural deafness due to the
acoustic neuroma (vestibulocochlear
schwannoma)

17.  Ophthalmologic findings in NF-2 are
uncommon.
 Several young patients with NF-2 have been
found to have a combined hamartoma of the
retina in one or both eyes.If the lesion involves
the macula, the vision tends to be poor

18.  Presumed combined hamartoma of
neurosensory retina and retinal pigment
epithelium in a child with neurofibromatosis
type 2

20.  BOURNEVILLE'S DISEASE
 The complete syndrome is characterized by
 multifocal, bilateral retinal astrocytic hamartomas,
 several unusual cutaneous lesions,
 astrocytic tumors of the brain,
 mental retardation,
 seizures,
 a variety of cysts and tumors of other organs.
 The clinical spectrum is extremely broad,
ranging from minimal to marked

21.  The prevalence is at least 1 in 10,000.
 1/3rd
are familial, whereas 2/3rd
are sporadic
 No racial predilection
 Signs and symptoms of tuberous sclerosis
usually begin before the patient is 6 years old

22.  The classic triad of
 epilepsy,
 mental retardation
 adenoma sebaceum
 present in only a minority of patients, but is
diagnostic

23.  Adenoma sebaceum
 Ash leaf spots
 Shagreen patches
 Subungual hamartomas
 Skin tags (molluscum fibrosa pendulum).
 Café-au-lait spots

24.  Fibroangiomatous
red papules with a
butterfly distribution
around the nose and
cheeks
 It is universal

25.  Ash leaf spots are hypopigmented macules on
the trunk,limbs and scalp.
 With sparse skin pigmentation they are best
detected using ultraviolet light, under which
they fluoresce (Wood lamp).

29.  Intracranial paraventricular subependymal
astrocytic nodules and giant cell astrocytic
hamartomas
 Learning difficulties
 Seizures

30.  Renal angiomyolipomas and cysts.
 Cardiac rhabdomyomas.
 Pulmonary lymphangiomatosis

31.  patchy iris hypopigmentation
 Astrocytic hamartoma
 atypical iris colobomas

32.  The classic ophthalmoscopic feature
 Arises within RNFL in the posterior fundus
 Extremely slow growth
 Small lesions commonly appear as translucent intraretinal
patches with minimal thickness.
 Intralesional calcification develops within some larger
lesions.
 Multiple lesions can be present in one eye, and many
affected patients have binocular involvement.
 Approximately one half of patients with tuberous
sclerosis have at least one typical astrocytic retinal
hamartoma.

36.  Inherited VHL is autosomal dominant
 20% are sporadic.
 It is caused by a mutation in the VHL tumour
suppressor gene on chromosome 3.

37.  Clinical hallmarks of VHL disease include
 Retinal and CNS hemangioblastomas (blood vessel
tumors),
 Pheochromocytomas,
 Multiple cysts in the pancreas and kidneys,
 Increased risk for malignant transformation of renal
cysts into renal cell carcinoma

38.  CNS & Retinal haemangioma
 Phaeochromocytoma.
 Renal carcinoma and pancreatic islet cell carcinoma.
 Cysts of the testes, kidneys, ovaries, lungs, liver and
pancreas.
 Polycythaemia, which may be the result of factors
released by a cerebellar or renal tumour.
 Endolymphatic sac tumours develop in the inner ear
in 10%, with consequent hearing and balance
difficulties
 No typical skin lesion

40.  The hallmark of the mature tumor is a pair of
markedly dilated vessels (artery and vein)
running between the lesion and the optic disc,
indicating Significant arteriovenous shunting

41.  Retinal lesions usually become visible
ophthalmoscopically between ages 10 and 35
years, about a decade before the peak clinical
incidence of cerebellar disease.
 Tumors are multiple in the same eye in about
one-third of cases and bilateral in as many as
one-half of cases.
 Tumors typically occur in the peripheral
fundus, but lesions adjacent to the optic disc
have also been described.

42.  Annual physical examination,
 retinal examination from age 2 to 5 years (6-monthly
from ages 10 to 30 years),
 renal ultrasonography from age 15 years,
 24-hour urine collection for estimation of vanillyl
mandelic acid and catecholamine levels from age 2 to 5
years to detect phaeochromocytoma.
 Audiometry should be performed if there are any
hearing or balance problems.
 Two-yearly abdominal and brain MRI scans from
the age of 15; if CNS lesions are symptom-free,
treatment may not be required

43.  It is thought safe to discontinue screening at
around age 60 years if no abnormality has been
identified
 Genetic testing is indicated in all patients with
suspected VHL and in first- and second-degree
relatives
 Screening is unnecessary if the mutation is
absent

45.  Encephalotrigeminal angiomatosis
 Congenital, sporadic phacomatosis
 Characterized by:
 cutaneous facial nevus flammeus in the distribution
of the branches of the trigeminal nerve,
 ipsilateral cavernous hemangiomas of the meninges
and the choroid,
 ipsilateral congenital, infantile, or juvenile glaucoma
 The lesions in the eye, skin, and brain in SWS
are always present at birth unlike other
phacomatoses

46.  facial nevus flammeus
 flat to moderately thick zone of dilated telangiectatic
cutaneous capillaries
 unilateral
 involves the regions of the face innervated by the
first, occasionally the first and second, and rarely all
three branches of the trigeminal nerve

47.  Ipsilateral leptomeningeal hemangiomatosis
 Atrophy of cortical parenchyma
 Lesions present at birth, detected by MRI or CT
 Meninges become irregularly calcified,
detected by Skull radiographs

49.  Glaucoma (70%)
 Choroidal hemangioma,
 generalized hemangiomatous thickening of the choroid
that tends to be most pronounced near or around the
optic disc and in the macula
 Deeper saturated red appearance of the involved
fundus
 Deep central cupping due in large part to the
thickening of the circumpapillary choroid
 Dilated tortuous retinal blood vessels
 Telangiectasia of the conjunctiva and episclera

55. 1. Glaucoma,
2. Cystic degeneration of the macular retina,
3. Nonrhegmatogenous retinal detachment
 The glaucoma tends to occur early in life and be
resistant to conventional forms of treatment.
 May be caused by angle dysgenesis leading to
elevated episcleral venous pressure
 The detachment tends to become chronic with
displacement of the detached retina up against
the back surface of the lens in severe cases

56.  Glaucoma developing as part of SWS needs a
filtering procedure or even a cyclodestructive
procedure in most patients
 If an exudative bullous retinal detachment
develops, then low-dose external beam
radiation therapy appears to be the most
appropriate therapy

58.  Racemose haemangioma
 Sporadic congenital malformation, with unilateral
involvement in single or multiple sites of the same eye,
most commonly temporally.
 Complications
 haemorrhage,
 exudation
 vascular occlusion,
 vision is commonly unaffected and the condition discovered at
a routine examination
 visual field defect may be present
 Some patients may harbour ipsilateral brain, facial
bone and skin lesions (Wyburn-Mason syndrome),
particularly those with more severe retinal changes

64.  Duane ophthalmology (Oculist.com)
 Kanski ophthalmology, 8th
edition
 Medscape
 www.wikipedia.com