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CONGENITAL AND PEDIATRIC RETINAL DISEASES

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Familial Exudative Vitreoretinopathy  
 

Familial exudative vitreoretinopathy (FEV) is a vitreoretinal dystrophy of autosomal dominant inheritance. It is more common in the first decade...

Familial exudative vitreoretinopathy (FEV) is a vitreoretinal dystrophy of autosomal dominant inheritance. It is more common in the first decade of life. Although it is bilateral, development is asymmetrical.

It is characterized by alterations in the vitreoretinal interface and peripheral ischaemia usually in the temporal area.

FEV is differentiated into three clinical stages: in Stage I, patients are asymptomatic and there is modification of the vitreoretinal interface and retinal peripheral avascular areas; Stage II is a proliferative and exudative stage, in which neovascularization and fibrovascular proliferation and sub and intraretinal exudation can be observed; in Stage III, the injury scar causes scarring, tractional and rhegmatogenous retinal detachment, and sickle folds.

Coats Disease  
 

Coats disease is an idiopathic entity, characterized by unilateral abnormal telangiectatic or aneurismal retinal vessels associated with intraretinal and subretinal...

Coats disease is an idiopathic entity, characterized by unilateral abnormal telangiectatic or aneurismal retinal vessels associated with intraretinal and subretinal lipid deposits.

Coats is predominantly a disease of childhood. Males are affected up to four times as frequently as females.

The disease is classified into three groups. Group I has massive subretinal exudates, no vascular abnormalities, and a choroidal mononuclear infiltrate. Group II also has massive subretinal exudates, retinal vascular abnormalities and no choroidal mononuclear infiltrate. Group III again has massive exudates with arteriovenous malformations.

Differential Diagnosis of Childhood Disease (Leukocoria or Exudative Retinal Detachment):

  • Acquired peripheral capillary angioma
  • Familial exudative vitreoretinopathy
  • Incontinentia pigmenti
  • Norrie´s disease
  • Pars planitis
  • Persistent hyperplastic primary vitreous
  • Retinitis pigmentosa with Coats-like response
  • Retinoblastoma
  • Retinopathy of prematurity
  • Toxocariasis
  • Von Hippel-Lindau (angiomatosis retinae)
Juvenile X-Linked Retinosquisis  
 

X-Linked retinosquisis, a bilateral disorder in 98% of cases, occurs in males, and classically demonstrates a stellate maculopathy and peripheral...

X-Linked retinosquisis, a bilateral disorder in 98% of cases, occurs in males, and classically demonstrates a stellate maculopathy and peripheral retinal dehiscences in the nerve fiber layer. Onset is in first decade or may be present at birth.

This disorder is mapped to the XRLS1/retinoschisin, which that codes for proteins necessary for cell-cell adhesion.

The OCT shows a microcystic-like change of the macula.

The major vision-threatening complications at later ages of X-linked retinoschisis are rhegmatogenous retinal detachment and vitreous hemorrhage.

Differential Diagnosis

  • Familial exudative vitreoretinopathy
  • Goldmann-Favré disease
  • Norrie´s disease
  • Retinitis pigmentosa
  • Retinopathy of prematurity
  • Stickler’s syndrome
Ocular Toxocariasis  
 

Toxocariasis is an infectious parasitic disease caused by the larvae of the nematodes Toxocara canis and Toxocara cati which are...

Toxocariasis is an infectious parasitic disease caused by the larvae of the nematodes Toxocara canis and Toxocara cati which are intestinal worms of these hosts. Toxocariasis is a worldwide infection and humans are incidental hosts in which aberrant infection occurs because the parasites cannot completely mature.

The usual mode of infection is eating contaminated soil (geophagia, via hands) or uncooked food. Children who have close contact with dogs (puppies) are at great risk of infection.
The disease is typically unilateral and most often seen in children, though many cases in adults have been reported. Symptoms include decreased visual acuity, but the initial clinical manifestation may be strabismus or leukocoria.

There are three main forms of ocular toxocariasis:

  • Peripheral granuloma
  • Posterior pole granuloma
  • Chronic endophthalmitis

The granuloma is usually yellowish white, 1-2 disc diameter in size, where the larva is encysted. A common finding is a radial fold of the retina extending from the peripheral granuloma to the optic disc. Vitritis may be mild to severe and patients may present with hypopyon.

Complications include macular heterotopias, epiretinal membranes, tractional retinal detachment, ciliary body detachment with hypotony, cataract, secondary glaucoma and phthisis bulbi.

Differential diagnosis includes other causes of leukocoria: retinoblastoma, Coats’ disease, retinopathy of prematurity, persistent hyperplastic primary vitreous, familial exudative vitreoretinopathy, toxoplasmosis, pars planitis, and endogenous endophthalmitis.

The diagnosis is based on clinical picture and serologic confirmation of specific IgG and IgM antibodies using ELISA. Other methods are detection of specific anti-toxocara IgG by Western-blot, specific IgE, and intraocular fluids PCR analysis. Patients with visceral larva migrans have leukocytosis and hypereosinophilia, while in patients with ocular toxocariasis they are usually absent.

Persistent Fetal Vasculature  
 

Persistent fetal vasculature is a rare benign developmental disorder of the globe in which the embryonic vasculature fails to regress...

Persistent fetal vasculature is a rare benign developmental disorder of the globe in which the embryonic vasculature fails to regress normally, resulting in abnormal lenticular development and secondary changes of the retina and globe. This disorder is sporadic and 90% unilateral.

Signs and symptoms include nystagmus, cataracts, retinal detachment, glaucoma or microphthalmia. There are usually no associated systemic findings.

Differential Diagnosis

  • Leukokoria
Chorioretinal Coloboma  
 

A coloboma is a defect in the eye due to incomplete closure of the embryonic fissure, resulting in a gap...

A coloboma is a defect in the eye due to incomplete closure of the embryonic fissure, resulting in a gap or hole in the ocular structure. It is a congenital condition that may affect the eyelid, retina, choroid and optic nerve.

The symptoms depend on the location of the coloboma and ocular structures involved.

The chorioretinal coloboma is usually located inferonasally and may extend and involve the macula. It appears as a yellow-white lesion with pigmented margins, varying in size, and can be unilateral or bilateral. This coloboma increases the risk of retinal detachment, and choroidal neovascularization on its margins.

Retinopathy of Prematurity  
 

Retinopathy of prematurity (ROP) is an ischemic retinopathy of premature and low-birth-weight infants.

Vascularization of the retina starts by week...

Retinopathy of prematurity (ROP) is an ischemic retinopathy of premature and low-birth-weight infants.

Vascularization of the retina starts by week 16 of gestation. It develops centrifugally from the optic disc towards the ora serrata. The nasal retina is usually vascularized by the 8th month of gestation, and the vascularization of the temporal ora is usually completed 1-2 months later. When a child is born prematurely with an incomplete retinal vascularization, ROP can develop.

The risk factors associated with ROP include prematurity, low birth weight and supplemental oxygen in neonatal care.

Early treatment for retinopathy of prematurity study found a prevalence of ROP in children with birth weight 1000-1250g of 44%, 751-999g of 76% and < 750g of 93%. Supplemental oxygen was also related to increased incidence of ROP. The first attempts to reduce supplemental oxygen in premature infants, resulted in higher mortalities. With the widespread use of pulse oximetry and systems allowing better control of oxygen delivered, a decreased incidence of ROP, without increased mortality and morbidity was possible.

Several classifications have been developed to stratify the patients with ROP. The major on used in clinical practice is the International Classification of ROP. We consider the details of this classification beyond the scope of this Atlas.

Early diagnosis is paramount. Fundus examination should be performed on infants born with gestational age of 30 weeks or less, a birth weight of less than 1500 g or a birth weight of 1500-2000 g when oxygen supplementation was required. The first examination should be done at 4 weeks to less than 5 weeks after birth or at a corrected gestational age of 30 to less than 31 weeks, whichever is later.

Treatment of ROP started with cryotherapy applied to the peripheral non-vascularized retina, when the patient met certain clinical criteria. Today, laser photocoagulation has largely superseded cryotherapy in the treatment of ROP and has become the gold standard. Anti-VEGF agents hold promise for the treatment of ROP and have demonstrated efficacy although safety concerns are still an issue.