Retinal Disorders

Fisseha Admassu, MD
Assist prof of ophthalmology
University of Gondar
ANATOMY
Retina as seen through an
ophthalmoscope
Layers

10 layers:
• Outermost: retinal pigment epithelium (RPE) – single layer
• Innermost: neuroretina:
- Ganglion cell layer, axons form optic nerve
- Bipolar nerve layer
- Photoreceptors (cons & rods)
Photoreceptors
• Convert light into electrical
signals

• Rods:
• For night vision
• Do not signal wavelength
information (color)

• Cones:
• For daylight and color vision
• High threshold to light
• Concentrated at the fovea
 SYMPTOMS OF
RETINAL DISEASES
Macular Dysfunction

Disorder of the central part of the macula (fovea) causes

significant visual impairment, pt. may complain of:
• Blurred central vision

• Distorted vision (metamorphopsia): micropsia or macropsia,

occur if the photoreceptors become stretched apart or close
together.

• Areas of loss of central visual field (scotomata), if part of the

photoreceptor layer becomes covered, e.g. by blood, or if the
photoreceptors are destroyed.
Blurred central vision Scotomata

Metamorphopsia
Peripheral Retinal Dysfunction

The pt. complains of:

• Loss of visual field, detected clinically.

• Some diseases may predominantly affect one type of

photoreceptors, ex. Retinitis pigmentosa and night vision.
ACQUIRED MACULAR
DISEASES
Age-related macular degeneration
(AMD)
• The commonest cause of irreversible visual loss in the
developed world.
• Associated with increasing age and is typically bilateral
• Pathogenesis:
– Overtime undigested lipid products deposits in Burch’s membrane, seen as
yellow lesions called drusen.
– Collection of drusen in the macula is termed age related maculopathy
(ARM)
– Dry form: the neighboring RPE and photoreceptors show degenerative
changes
– Wet/Exudative form: angiogenic factors (ex. VEGF) stimulate new vessel
formation from the choroid through Bruch’s membrane and RPE into the
sub retinal space forming sub-retinal neovascular membrane.
AMD cont.
AMD cont.

Symptoms
• Symptoms of macular dysfunction
• Progressive, gradual loss of central vision leading to difficulty in
reading and recognizing distant objects
• In the wet form, visual disturbance is sudden

Signs
• Yellow, well-circumscribed drusen
• Areas of hypo/hyperpigmentation
• Loss of foveal reflex
• In wet, pre-retinal (more occasionally) or subretinal hemorrhage
AMD cont.

Investigations
•Diagnosis is based on the appearance of the retina.
•In suspected exudative AMD and vision not severely affected a
fluorescein angiogram may be performed to delineate the position
of the sub-retinal neovascular membrane.

Prognosis
•Dry AMD: progress very slowly , increasing difficulty in reading
•Wet AMD: 75% of pt.s experience marked deterioration in vision
over 3 years.
AMD cont.

Treatment
• Active medical intervention remains of limited benefit
• Dry AMD:
– No treatment
– Vision is magnified with low-vision aids (ex. Magnifiers, telescopes)
– Reassure that peripheral vision will not get affected (navigational vision is
retained)
• Wet AMD:
– Small proportion of pts can benefit
– Anti VEGF injection
– If the sub-retinal Vascular membrane is eccentric to the fovea it may be
possible to obliterate it with argon-laser treatment
– Subfoveal vascular membranes can be obliterated by photodynamic
therapy (PDT)
– The condition can recur
Toxic maculopathies

• The accumulation of some

drugs in the RPE can cause
macular damage.
• These drugs include
chloroquine (more toxic)
and hydroxyxhloroquine
• Patients on chloroquine
require regular visual
assessment for maculopathy
• Phenothiazines and
tamoxifen may also cause
maculopathy
Toxic maculopathies

Bull’s-eye appearance in chloroquine

maculopathy.
 RETINAL
DETACHMENT
RETINAL DETACHMENT

• Loss of position btw. the

sensory retina and the
retinal pigment epithelium

• Pathogenesis:
– Rhegmatogenous retinal
detachment: most cases, tear
in retina vitreous in sub-
retinal space Retinal detachment
– Traction retinal detachment: 1 Cornea
contracting fibrous tissue, ex. 2 Iris
DM 3 Lens
4 Detached retina
– Exudative retinal detachment:
5 Eyebal
fluids in sub-retinal space, ex.
tumors
RETINAL DETACHMENT
Rhegmatogenous retinal
detachment
• Retinal separation associated with a break, hole or tear in the
sensory retina.

• 1/1000, increased in:

– High myopes pt.s
– Cataract surgery complicated by vitreous loss
– Detached retina in the other eye
– Recent sever eye trauma

• Retinal Tears:
– Most commonly associated with post. vitreous detachment (vitreous
traction)
– Lattice degeneration
Rhegmatogenous retinal
detachment
Symptoms:
• may be preceded by symptoms of a posterior vitreous
detachment
• At onset, progressive development of a field defect, often
described as a ‘shadow’ or ‘curtain’.
• Peripheral field loss (early)
• Loss of central vision and marked decrease in visual acuity if
macula is detached
• Loss of red reflex, degree depends on area of detachment
Rhegmatogenous retinal
detachment

Retinal detachment Normal vision

Rhegmatogenous retinal
detachment
Signs
• The detached retina is visible on ophthalmoscopy as a floating,
diaphanous membrane.
• Bullous retinal detachment: marked accumulation of fluid in the
sub-retinal space
• A tear in the retina appears reddish pink because of the
underlying choroidal vessels.
• Vitreous hemorrhage
Rhegmatogenous retinal
detachment
Management
• Only by surgery, aim is to close causative break and increase
retinal attachment by inducing inflammation either by cryoprobe
or laser.

• There are two major surgical techniques for repairing a retinal

detachment:
– external (conventional approach); relieves vitreous traction, sclerostomy
may be needed first
– internal (vitreoretinal surgery); through pars plana, maintain head
posture for several days, avoid air traveling

• Check other eye for tears or asymptomatic retinal detachment.

• In case of tears without detachment, surgery is done
prophylactically.
Traction retinal detachment

• The retina is pulled away

from the pigment epithelium
by contracting fibrous tissue
which has grown on the
retinal surface.

• Seen in:
– Proliferative diabetic
retinopathy
– Proliferative vitreoretinopathy
– Vitroretinal surgery

• May be in association with

rhegmatogenous retinal
detachment
Exudative retinal detachment

• Detachment of the retina without retinal break, arising from

inflammatory disease of choroid, retinal tumors, and retinal
angiomatosis.
• Seen in:
– Posterior uveitis
– Intraocular tumors
– Toxemia of pregnancy
– Central serous retinopathy affecting the macula
• Only macular involvement is symptomatic
• May not be detected on direct ophthalmoscope
• Foveal detachment results in permanent impairment of visual
acuity
Hypertensive Retinopathy
 Hypertensive Retinopathy

*The retina is one of the "target organs" that are damaged by

sustained hypertension.
*Subjected to excessively high blood pressure over prolonged
time, the small blood vessel that involve the eye are damaged,
thickening, bulging and leaking.

*Symptoms:
Most patients with hypertensive retinopathy present without
visual symptoms but some of them may complain of headache
and decreased vision
Hypertensive Retinopathy

*Sign:

1- arteriosclerotic changes: arteriolar narrowing, a/v nicking,

Arteriolar color changes Copper /silver wire arterioles..
2-ischemia changes (cotton wool spot)
3-hemorrhage
4-edema: ring of exudate around the retina
5-papilledema or optic disc edema
 Hypertensive retinopathy
Arteriolar constriction

Focal Generalized Arteriolosclerosis (A-V changes

Extravascular signs

Flame-shaped retinal Cotton-wool spots and Disc oedema

haemorrhages macular star
Hypertensive Retinopathy

• Grades of hypertensive retinopathy

• Grade o: No changes
• Grade 1: Barely detectable arterial narrowing
• Grade 2: Obviously detectable arterial
narrowing with focal irregularities
• Grade 3: Grade 2 plus retinal hemorrhages
and or exudates
• Grade 4:Grade 3 plus disc swelling
Hypertensive Retinopathy

- Management :
- The aim of treatment is to prevent and limit
target organ damage.
- Control blood pressure by antihypertensive
medication.
- regular eye examination is important
DIABETIC RETINOPATHY
DIABETIC RETINOPATHY
1. Adverse risk factors

2. Pathogenesis

3. Non proliferative diabetic retinopathy (Background diabetic retinopathy)

4. Diabetic maculopathies
• Focal
• Diffuse
• Ischaemic

5. Clinically significant macular edema

6. Preproliferative diabetic retinopathy

7. Proliferative diabetic retinopathy

Adverse Risk Factors

1. Long duration of diabetes

2. Poor metabolic control

3. Pregnancy

4. Hypertension

5. Renal disease

6. Other
• Obesity
• Hyperlipidaemia
• Smoking
• Anaemia
Pathogenesis of diabetic retinopathy
Consequences of retinal ischaemia
Consequences of chronic leakage
Location of lesions in background
diabetic retinopathy
Signs of background diabetic retinopathy

Microaneurysms usually Intraretinal dot and

temporal to fovea blot haemorrhages

Hard exudates Retinal oedema seen as

frequently thickening on biomicroscopy
arranged in clumps or
rings
 Clinically significant macular oedema

Hard exudates
Retinal oedema within 500 m
within 500 m of centre of
of centre of fovea fovea with adjacent
oedema which may
be outside 500 m
limit

Retinal oedema one disc area or larger any

part of which is within one disc diameter
(1500 m) of centre of fovea
 Preproliferative diabetic retinopathy

Signs

• Cotton-wool spots • Dark blot haemorrhages

• Venous irregularities • Intraretinal microvascular
abnormalities (IRMA)

Treatment - not required but watch for proliferative disease

 Proliferative diabetic retinopathy
• Affects 5-10% of diabetics
• Type I at increased risk (60% after 30 years)
Neovascularization
• Flat or elevated
• Severity determined by comparing with area of disc

Neovascularization of disc = NVD Neovascularization elsewhere = NVE

 Laser panretinal photocoagulation

• Initial treatment is 2000-3000 burns• Area covered by complete PRP

• Spot size (200-500 m) • Follow-up 4 to 8 weeks
depends
on contact lens magnification
• Gentle intensity burn (0.10-0.05 sec)
Indications for vitreoretinal surgery

Severe persistent vitreous

Dense, persistent premacular
haemorrhage haemorrhage

Progressive proliferationRetinal detachment involving

despite laser therapy macula
Retinoblastoma
 Important facts

1. Most common primary, malignant,

intraocular tumor of childhood (1:20,000)
2. No sexual predilection

3. Presents before age of 3 years

(average 3 months)
4. Heritable (40%) or non-heritable (60%)

5. Predisposing gene (RPE 1) on 13q14

 Presentations of retinoblastoma

• Leukocoria - 60% • Strabismus - 20%

• Secondary glaucoma

• Anterior segment invasion

• Orbital inflammation • Orbital invasion
 Early endophylitic
retinoblastoma

White flat lesion Placoid lesion

More advanced endophytic
retinoblastoma

Friable white mass Cottage cheese appearance

Fine surface blood vessels Vitreous seedings

 Exophytic retinoblastoma

Multiglobulated white mass withMay be difficult to

overlying retinal detachment visualize
through deep
detachment
CT diagnosis of retinoblastoma
Calcification

• Optic nerve involvement

• Orbital and CNS extension
• Pinealoblastoma
Treatment Options of Retinoblastom
1. Small tumours
• Laser photocoagulation
• Transpupillary thermotherapy
• Cryotherapy

2. Medium tumours
• Brachytherapy
• Chemotherapy
• External beam radiotherapy

3. Large tumours
• Chemotherapy followed by local treatment
• Enucleation

4. Extraocular extension
• External beam radiotherapy

5. Metastatic disease
• Chemotherapy
Color Vision
Pigment Anatomy

• 3 types of cones:
short (S), middle (M),
and long (L)
wavelength sensitive.
• (S): 430 nm = blue
• (M): 530 nm = green
• (L): 560 nm = red
Pigment Anatomy

• Origin of pigments
– Red/green from opsin gene on X-chromosome or sex
chromosome.
– Show very similar amino acid seqs. (96%)
– Blue on chromosome 7 and rhodopsin on chromosome 3 are
very different.
The normal human retina contains two kinds of light sensitive
cells: the rod cells (active only in low light) and the cone cells
(active in normal daylight and responsible for color perception).

Normally, there are three kinds of

cones (each one sensitive to a
specific range of wavelengths):

"red" cones (64%)

"green" cones (32%)
"blue" cones (2%)

The different kinds of inherited color blindness result from

partial or complete loss of function of one or more of the
different cone systems.
Photoreceptor Anatomy

• Cones more concentrated

near fovea
– Adapts to a wide range of
illumination colors and
levels.
• Rods spread throughout
the retina
– Provide quick response to
changes in illumination.
Photoreceptor Anatomy

• Example: if you
stimulate all 3 types
of cones about
equally the result is
white or no color.
 Different Types of Color Blindness
• Monochromacy: occurs when two or all three of the cone
pigments are missing and color and lightness vision is reduced
to one dimension.

– Total color blindness

• Dichromacy: occurs when only one of the cone pigments is

missing and color is reduced to two dimensions.

– Partial color blindness

red-green
blue-yellow
• Protanopia is a severe type of color vision deficiency caused
by the complete absence of red retinal photoreceptors

• Deuteranopia is a color vision deficiency in which the green

retinal photoreceptors are absent

• Tritanopia is a very rare color vision disturbance in which there

are only two cone pigments present and a total absence of blue
retinal receptors
Anomalous trichromacy

• Protanomaly is a mild color vision defect in which an altered

spectral sensitivity of red retinal receptors 
• Deuteranomaly, caused by a similar shift in the green retinal
receptors, is by far the most common type of color vision
deficiency, mildly affecting red–green hue discrimination
• Tritanomaly is a rare, hereditary color vision deficiency affecting
blue–yellow hue discrimination. Unlike most other forms, it is
not sex-linked, it is related to Chromosome "7
 Total Color Blindness
Also known as rod monochromacy, complete achromatopsia, and
typical monochromacy.

A rare, non-progressive inability to distinguish any colors as a

result of absent or nonfunctioning retinal cones.

See everything as white, black, or some shade of gray

Typically caused by a missense mutation (a switched amino acid)

in the CNGB3 gene.
 Testing color vision

Color vision deficiency is

usually detected using
colored charts called the
Ishihara Test Plates. The
plates consist of gray and
colored dots. The patient is
Vision test examples.
asked to identify the number Normal people should see 74.
in the middle of the circle. Color deficient people may see
D=21.
After the patient has identified
what they see, more testing
may commence.