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Congenital Retinal Anomalies
Congenital Retinal Anomalies
Congenital Retinal Anomalies
Embryology
• Neural ectodermal cells – first month of development
• Ganglion cell layer – first – sixth week of gestation
• Cones – 5 months
• Rods – 7 months
• Growth after birth too – RB
• Vitreous develops in 3 stages
– First – 2-3 month
– Second and Tertiary – 3-4 month
– Supply from – Hyaloid artery
Epidemiology
• Rare anomalies
• Diseases With Specific Retinal Findings That
Suggest a Diagnosis
■ Egg yolk—Best disease
■ Lacunae—Aicardi syndrome
■ Cherry-red spot—metabolic diseases
■ Retinal necrosis and hemorrhage—
Cytomegalovirus
■ Astrocytic hamartoma—Tuberous sclerosis
Pathogenesis
• Congenital defects (e.g., coloboma),
• Vascular abnormalities (e.g., retinopathy of
prematurity [ROP]),
• Infections
• Tumors,
• Trauma, and
• Metabolic diseases
Clinical Presentation
• Unilateral abnormalities may be difficult to detect, because
the children function well if the vision is good in the other
eye.
• The vision loss may not be noticed until the child has a
vision test or if the child occludes the normal eye
• Strabismus may develop in eyes with unilateral vision loss
• In some lesions, such as retinoblastoma or large
colobomas, an abnormality of the red reflex may be noted.
• If the vision loss is bilateral, decreased vision will usually be
evident.
• In infants, significant bilateral vision loss initially manifests
as nystagmus that develops within the first 2 to 3 months
of life.
CONGENITAL
• Coloboma
– incomplete closure of the embryonic fissure
– inferonasal quadrant
– white defects, because the sclera is directly visible due to
the absence of normal retina and retinal pigment
epithelium
– Prognosis – Foveal involovement
– Isolated or may withsystemic disorders, such as CHARGE
(Coloboma, Heart defects, Atresia choanae, Retardation of
growth, Genitourinary anomalies, and Ear anomalies)
syndrome.
– Not progressive.
– Difficult to treat.
Congenital Retinal Fold
• Rare anomalies
• A fold of retinal tissue extends from the optic
nerve to the retinal periphery, usually in the
inferotemporal portion of the eye
• May be inherited in an autosomal dominant
• associated with marked vision loss, and are
not amenable to treatment.
Persistent Fetal Vasculature
• incomplete regression of the hyaloid blood
vessel during embryological development
Aicardi Syndrome
• X-linked – Distinctive retinal changes.
• Females
• maternal spontaneous abortions
• Systemic findings
– absence of the corpus callosum,
– developmental delay, and
– seizures.
• Retinal findings
– multiple round depigmented areas (lacunae),
primarily in the posterior portion of the retina
Albinism
• Decreased pigment (oculocutaneous albinism
[OCA])
• Isolated to the eye (ocular albinism).
• Neonatal period with decreased vision and
nystagmus.
• Decreased skin and hair pigment.
– Transillumination defects of the iris
– Decreased peripheral retinal pigmentation,
– Hypoplasia of the fovea
– VA Range : 20/100 - 20/200
Foveal Hypoplasia
• The normal foveal reflex is missing and the retinal
blood vessels are not organized around the
fovea.
• The abnormal foveal anatomy causes decreased
vision in patients with foveal hypoplasia.
• Albinism
• Aniridia
• May be suspected of having amblyopia or
factitious visual loss unless the retina is carefully
examined.
ABNORMALITIES OF
VASCULAR DEVELOPMENT
• Retinopathy of Prematurity
• Abnormal neovascular tissue develops. This
tissue may proliferate and cause bleeding and
traction, which can progress to retinal
detachment.
• Major cause of morbidity in premature infants.
• The risk increases with decreasing birth weight
and gestational age, occurring almost exclusively
in infants born at 30 weeks gestation or less.
• The presence of plus disease is a key indicator
of risk. Plus disease describes increased
tortuosity and dilation of the posterior blood
vessels which reflects the abnormal retinal
vascular development.
Stages
• 1 - Demarcation line
• 2 – Elevated ridge at border of demarcation
• 3 – Elevated Ridge with abnormal blood
vessels
• 4 – Partial Tractional Retinal Detachment
• 5 – Total Retinal Detachment ( closed funnel)
Treatment of ROP
Ash-leaf spot
Tuberous sclerosis.
Retinal astrocytic hamartomas
(arrows), with appearance similar to
retinoblastoma
• Retinal astrocytic
hamartoma with
lobulated
appearance, more
commonly seen in
older affected
children.
• Neurofi bromatosis Type 2
– Less common than neurofi bromatosis type 1
– An autosomal dominant fashion.
– Patients uniformly develop acoustic neuromas.
– They do not have iris Lisch nodules.
– Posterior subcapsular cataracts may occur.
– A specific retinal abnormality associated with NF2 is an epiretinal
membrane.
– These arise on the inner retinal surface and may cause a wrinkled
appearance of the retina when they contract.
– Epiretinal membranes occur relatively commonly in adults,
particularly the elderly.
• Chronic Granulomatous Disease
– A disorder of phagocytosis - An X-linked fashion.
– Patients develop severe recurrent infections in
multiple organ systems.
– Patients may develop idiopathic retinal pigment
epithelial scarring along the course of the retinal
blood vessels
Pigment
ed
perivasc
ular
lesions
• Familial Adenomatous Polyposis (Gardner Syndrome)
– An autosomal dominant disorder in which affected individuals
develop polyps in the colon with a high potential for malignant
conversion.
– Congenital hypertrophy of the retinal pigmented epithelium is a
fairly common retinal finding in normal individuals,
characterized by circular areas of dark retinal pigmentation.
– Patients with Gardner syndrome develop similar lesions, but
they are increased in number and have an ovoid appearance
– This retinal finding may be useful in identifying patients in
families with Gardner syndrome who are at risk for the
development of colon cancer.
areas of congenital hypertrophy
of the retinal pigment epithelium
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