This document summarizes various ocular manifestations of different neurological diseases. It discusses infections like TORCH which can cause ocular damage through direct action of the infecting agent, teratogenic effects, or delayed reactivation after birth, leading to issues like retinitis, choroiditis, cataracts. Neurological diseases discussed in relation to their ocular effects include tuberculosis, syphilis, leprosy, Marfan syndrome, Down syndrome, neurodegenerative conditions, and more. Specific findings associated with each condition are outlined such as Kayser-Fleischer rings in Wilson's disease or port wine stains in Sturge Weber syndrome.

1. OCULAR MENIFESTATION OF
NEUROLOGICAL DISEASES

2. TORCH infection:
It is the most common type of congenital infection exposed by the
acronym TORCH, which stands for-
• Toxoplasmosis
• Rubella
• Cytomegalovirus
• Herpes virus
These infections are maternally transmitted & causes ocular damage in
three ways:
• Through direct action of the infecting agent
• Through teratogenic effect
• Through a delayed reactivation of the agent after birth.

3. Toxoplasmosis- It causes
• Retinitis
• Choroiditis
• Iritis
• Anterior uveitis
• Vitritis
• Also causes catarct
Retinochoroidal scars in congenital toxoplasmosis

4. Rubella
• Particular nuclear cataract (floating in a liquefied lens cortex)
• Glaucoma
• Micropthalmos
• Anterior uveitis
• Retinal abnormalities
(salt & pepper pigmentary retinopathy)

5. Cytomegalo virus:
• Retinochoroiditis
• Optic nerve anomalies
• Micropthalmos
• Cataract
• Uveitis
Indolent retinitis with typical granular appearance
And also involving optic nerve head

6. Herpes simplex virus:
• Keratoconjuctivities
• Retinochoroiditis
• Cataract may be present
Kerato-conjunctivitis
**Toxoplasma, Rubella, Cytomegalovirus are one of the commonest cause of congenital cataract.

7. Tuberculosis:
Tuberculosis is a chronic
granulomatous infection usually
caused by M.tuberculosis.
Ocular findings.
• Anterior uveitis, Vitritis
• Macular oedema
• Retinal vasculitis
• Neuroretinitis, multifocal Choroiditis
• Sub retinal abscess, Endophthalmitis
• Panophthalmitis, ulcerative keratitis
• Tuberculous choroidal granulomas
Choroidal granuloma

8. Syphilis:
• Argyll Robertson pupil
• Papillary or granulomatous conjunctivitis
• Interstitial keratitis, episcleritis and Scleritis
• Granulomatous and non-granulomatous uveitis
• Chorioretinitis
• Optic nerve involvement- disc oedema, neuroretinitis, optic nerve
gumma
• Congenital glaucoma and cataract in congenital syphilis

9. Roseolae (dilated iris capillaries)
Neuro-retinitis (papillitis and macular
star figure)

10. Leprosy:
• Anterior uveitis
• Iris pearls (pathognomonic): usually under 0.5 mm in diameter.
• Keratitis: thickened, beaded corneal nerves, punctate
subepithelial lesions, pannus and vascularization
• Miosis and iris atrophy result from impaired dilator pupillae
innervation.
• Other features: episcleritis and scleritis, retinal pearls, reduced
corneal sensation, eyelid deformity.

11. Iris pearls Miosis Iris atrophy

12. Marfan Syndrome
• Bilateral ectopia lentis (80%); subluxation is most frequently
superotemporal. The zonule is frequently intact so that
accommodation is retained.
• although rarely the lens may dislocate into the AC or vitreous.
• Other ocular features: angle anomaly may lead to glaucoma, and
lattice retinal degeneration to retinal detachment; there may be
hypoplasia of the dilator pupillae, micro-spherophakia(lens of the eye
is smaller than normal and spherically shaped), and strabismus.

13. Ectopia lentis superotemporal subluxation

14. Down syndrome:
• Microphthalmia or anophthalmia
• Upward slanting of palpebral fissure
• Epicanthic fold
• Epiphora
• Refractive error eg. Astigmatism, Myopia
• Anisometropia
• Strabismus, nystagmus
• Keratoconus
• Blushfield spots – blue or hazel irides characteristics for down
syndrome

15. Epicanthic fold Brushfield spot (they are small, white
or grayish brown spots on the
periphery of the iris in the human eye
due to aggregation of connective
tissue, a normal constituent of the iris
stroma.)

16. Homocystinuria:
Autosomal Recessive Disorder, occur due to
deficiency of cystatheonine beta synthetase
enzyme.
Ocular manifestation included: Progressive
ectopia lentis typically subluxation
inferiorly.
Slit lamp examination reveals broken
zonules while in Marfan syndrome, zonules
are stretched but intact.

17. Galactosemia:
Autosomal Recessive Disorder, occur due to
impairment of galactose utilization caused by
galactose 1 phosphate uridyle transferase
(GPUT) enzyme. There occur:
• Congenital cataract – “Oil droplet” lens
opacity found within few days or weeks.
Galactitol accumulates in the lens.
• Vitreous hemorrhage may be present.
• Retinal vascular fragility and coagulopathy

18. Phenylketonuria: Its an autosomal Recessive
Disorder
Ocular findings include:
• Pale blue irides
• Blonde fundi
• Foveal hypoplasia
• Iris transillumination
• Strabismus
Alkaptonuria: autosomal Recessive
• purple hued hyperpigmentation of sclera
• Dilated conjunctival vessels
• Corneal thinning and peripheral corneal
pigmentation in the form of discrete pin-head
sized diposits of light brown to black color
Fig. alkaptunuria

19. Neuro-degenerative disease
Wilson Disease:
It is a rare autosomal recessive disorder caused by deficiency of the plasma
copper carrying protein ceruloplasmin.
• It is characterized by widespread deposition of copper in the tissues with
particular impact on the liver, brain and corneas of the eye.
Ocular findings:
Kayser- Fleischer rings (KF ring) – is present in virtually all cases. Copper
granules deposits around the cornea at the periphery of descemet’s
membrane. More profound in vertical meridian, may disappear after treating
with penicillamine.
• Green- sunflower cataract may be present.

20. KF ring Sunflower Cataract

21. Leukodystrophy:
Leukodystrophy are group of
disorders characterized by
degeneration of white matter in the
brain (imperfect growth/
development of myelin sheath.
Ocular feature:
• Loss of visual acuity
• Visual field defect- Hemianopia
• Optic atrophy
• Reduced corneal sensation (due to
neuropathy)
Fig. Leukodystrophy

22. Corneal Lipidosis
• It is characterized by deposition or accumulation of fatty substances (
usually cholesterol) within the layers of cornea. There are three main
causes of corneal lipidosis- corneal dystrophy, corneal degeneration,
and elevated blood cholesterol levels.
Ocular Findings:
• Lipid deposit in the cornea appear as well defined areas of sparkly,
crystalline materials.

23. Neurocutaneous Syndrome
• Sturge Weber syndrome (encephalo trigeminal angiomatosis) is a
congenital condition. In the skin of the face which is supplied by one
or more divisions of trigeminal nerve, appear as soft pink patch which
is also known as ’port wine stain’ that doesn’t blanch on pressure.
• Ocular findings include ipsilateral glaucoma(sometimes IOP elevates
before the age of 2 years and may result in Buphthalmos), episcleral
hemangioma and diffuse choroidal hemangioma.

24. BuphthalmosPort wine stain

25. Ataxia telangiectasia
It is an autosomal recessive neurodegenerative disease due to a faulty
repair mechanism for breaks in double-stranded DNA (ATM mutation).
Ophthalmic features of AT include conjunctival telangiectasia,
strabismus, saccadic dysfunction with head thrusts, and convergence
insufficiency.
**Prominent blood vessels that appear over the sclera of the eyes are a
common eye manifestation but these have no impact on vision.

26. Tuberous sclerosis:
It is an autosomal dominant disease characterized by the development
of hamartomas in multiple organ systems from all primary germ layers.
The classic triad of epilepsy, mental retardation and adenoma
sebaceum is present in only a minority of patients, but is diagnostic.
Ocular feature: Apart from fundus astrocytoma include patchy iris
hypo-pigmenatation and atypical iris coloboma.

27. Neurofibromatosis
Neurofibromatosis is a disorder that primarily affects cell growth
in neural tissues. The two main forms are neurofibromatosis type
I (NF1) and type II (NF2).
Ocular findings:
1. Eyelid plexiform neurofibroma
Characteristics S shaped deformity.

28. 2. axial CT image showing right
proptosis with fusiform enlargement
of the optic nerve due to glioma
3. coronal CT image shows absence
of the greater wing of the left
sphenoid bone

29. 4.right proptosis due to optic nerve
glioma
5.Lisch nodules

30. 6. Ectropion uveae: Ectropion uveae (EU) is defined by the
presence of iris pigment epithelium on the anterior surface
of the iris

31. Cerebral palsy:
• Refractive errors-
Myopia
Hypermetropia
Astigmatism
• Non glaucomatous optic atrophy
• Nystagmus
• Increase IOP
• Cortical visual impairment
• Defect in horizontal gaze and Esotropia

32. Autism spectrum disorder:
• Refractive errors
• Strabismus
• Amblyopia
• Rarely seen xerophthalmia and rod predominant retinopathy
• Abnormal saccades movement may be found
• Pupillary changes may be also found in some cases

33. Multiple sclerosis:
• Optic neuritis
• Central vision loss and pain with eye
movement
• Interneuclear Ophthalmoplegia eg. Lateral
gaze in adducting eye and nystagmus in
abducting eye
• May be color vision impairment

34. Myasthenia graves:
• Asymmetric ptosis worse at the
end of the day
• Binocular Diplopia

35. Guillain-Barre syndrome:
• Ophthalmoplegia- symmetric
paresis of up gaze with variable
involvement down gaze
• Mild ptosis with 3rd nerve palsy
• Pupillary dysfunction
• Abnormal pursuit
• Nystagmus

36. Primary Optic Atrophy Secondary optic atrophy

37. Papilloedema

38. Thank You