Pediatric ocular diseases with A systemic approach

Presenter : Surendra Prasad SahM.Optom

(10/11/2014)

Alport’s syndrome Hereditary nephritis syndrome

Caused by a genetic defect in the type iv collagen

Worsen as renal function deteriorates

Males and females are equally affected

Hearing loss in patients sensorineural hearing loss

Tubular atrophy , interstitial inflammation and fibrosis and foam cell developed ,if the disease progress

Ocular Clinical features Bilateral anterior lenticonus and perimacular retinal flecks

Thinned basal lamina with basement membrane disruptions

Spontaneous and traumatic ruptures of the anterior lens capsule

Posterior lenticonus

Perimacular yellow flecks

Corneal finding include posterior polymorphous dystrophy , corneal arcus and recurrent nontraumatic corneal erosions

Cont…

Cont…

Systemic features

Thrombocytopenia

Macrothromocytopathia

Hypoparathyroidism

Polyneuropathy

Ichthyosis

Thyroid abnormalities

Treatment

There is no effective treatment

Renal plantation is usually very successful

Dual sensory loss in patients creates an urgent need for appropriate vision and care and rehabilitation

Alstrom syndrome

A syndrome of retinal degeneration combined with obesity ,diabetes mellitus and sensorineural hearing loss

Ocular clinical features

Posterior subcapsular cataracts

Iris and cilary body lacy vacuolization and asteriod hyalosis

Retinitis pigmentosa and large, superficial optic nerve drusen are found

Infantile cone and rod retinal dystrophy

Cont…

Treatment

There is no known treatment for vision loss secondary

Management of the endocrine ,cardiac and kidney disease is critical ,although a shortened lifespan is expected

Prognosis

There is a rapid and progressive loss of visual function to less then 20/200 by 10 years of age and no light perception

CHARGE association syndrome

Choanal atresia is present in about 58% of patients

Growth deficiency is usually postnatal and affects all the body in a symmetrical fashion

Mental development is affected

Genital hypoplasia is more prone to recognized

Ocular clinical features Iris colobomas , posterior colobomas of choroid or optic

nerve with no visual impairments

Microphthalmia

Optic nerve hypoplasia

Persistent hypoplastic primary vitreous

Congenital glaucoma

Bilateral Marcus-Gunn jaw winking phenomenon

Cont..

Individuals with CHARGE syndrome who survive the initial neonatal and infantile period merit vigorous rehabilitation of the sensory function to enable proper psychomotor development.

Nasogastric feeding is indicated in individuals with swallowing difficulty.

In the presence of facial palsy, avoid corneal scarring by using artificial tears.

In males with CHARGE syndrome, androgen therapy has been tried for penile growth.

Stevens –johnson syndrome

To severe form of erythema multiform with extensive skin and mucous membrane involvement along with fever and affection of the kidneys, gastrointestinal tract and central nervous system

ocular involvement is much less common in toxic epidermal necrolysis

Males are affected more than females

Ocular and clinical features

Crusty eyelids associated with a transient, self-limiting papillary conjunctivitis

Severe membranous or pseudo membranous conjunctivitis with patchy Conjunctival infarction is less common

Reticular scarring of the upper tarsal plate

Conjunctival keratinization and forniceal shortening

Cont…

Cont….

Dry eye resulting from loss of the goblet cells and destruction of lacrimal gland ductules

Corneal keratinization

Keratopathy secondary to cicatricial entropion, aberrant lashes and infection

Posterior lid margin disease with opening of meibomian orifices onto the ocular surface

Conjunctival scarring and symblepharon formation

Cont..

Treatment

Systemic disease is treated by maintaining hydration

debridement and replacement of sloughing skin.

Systemic steroids are occasionally prescribed

Lubrication and prevention of exposure

Topical steroids and antibiotics

Lysis of Conjunctival adhesions

Cont…..

A scleral ring, consisting of a large haptic lens with the central zone removed may prevent symblepharon formation

Lubrication and punctual occlusion for mild disease

Topical retinoic acid for keratinization

Lubrication and punctual occlusion for mild disease

Topical retinoic acid for keratinization

Cont..

Bandage contact lenses to maintain surface moisture and overcome irregular astigmatism. Gas permeable scleral contact lens for trichiasis and visual rehabilitation

Mucous membrane grafting and limbal cell transplantation

Lamellar corneal grafting is preferred to penetrating keratoplasty

Keratoprosthesis is end stage disease.

Sturge-weber syndrome

Sws is a neurocutaneous disorder characterized by cutaneous facial angiomas, liptomeningeal angiomas, and siezures and other neurological complications, including mental retardation and glaucoma.

Ocular Clinical features

1. Orbital

General:-

Exophthalmos

Lids

Ptosis

Port-wine stain of eyelid

2. Extraocular

Sclera

Nevoid marks or vascular dilation of the episclera

Telangiectasia of the episclera

Cont..

Contd..

Large, anomalous vessels in the conjunctiva

Oculocutaneous melanosis

3. Intraocular:-

Anterior segment

Increased corneal diameter

Reduced corneal reflex

Iris discoloration

Telangiectasia of the iris with heterochromia

Dilation and tortuosity of iris vessels

Contd..

Sluggish pupils

Anisocoria or other disturbances in pupil reaction

Coloboma of the iris

Deep anterior chamber angle

Buphthalmos

Media

Ectopia lentis

Spontaneous dislocation of the lenses

Contd..

ChoroidChoroidal angiomataChoroidal hemangioma

RetinaDilation and tortuosity of retinal vesselsRetinal arteriovenous aneurysmVaricosity of retinal veinsRetinitis pigmentosaRetinal detachmentCentral retinal vein occlusion

Contd..

Optic nerve

Arteriovenous angiomas

Papilledema

Optic atrophy

Optic nerve cupping

Optic nerve coloboma

Optic nerve drusen

Cont…

Cont….

4. Other

Strabismus

Nystagmus

Loss of vision (any degree)

Cortical blindness

Cortical blindness

Abnormal visual field caused by lesion in optic tract

Hemianopia

Secondary glaucoma (late)

Anisometropia

Treatment

Surgical resection with split- thickness skin grafting

Laser therapy

Drug therapy

Laser photocoagulation

Marfan’s syndrome

Characterized by the presence of abnormalities of the eye, aorta and skeleton.

About 355 of patients, do not develop lens subluxation

Cause due to mutation of the fibrill in gene on chromosome.

Ocular clinical features

Subluxation of the crystalline lens

Myopia, microcornea, keratoconus and occasionally retinal detachment and glaucoma.

Stretched zonular fibers can be seen through the dilated pupil.

Coloboma of the lens

Microspherophakia

iridodonesis results from lens subluxation

strabismus

Cont…

Cont….

Down syndrome

Systemic features :- Mental handicap

Upward slanting palpebral fissures

Epicanthic folds

Broad short hands and a protruding tongue

Ocular features :- Cataract of varying morphology occurs in about 75% of

patients .The opacities are usually symmetrical and often develop in late childhood

Cont…

Cat scratch disease

Self-limited illness caused by the fastidious gram –negative bacillus

Transmitted via the scratch or bite of a cat or kitten

Characterized by lymphadenopathy of local lymph nodes drainining the site of infection

0cular clinical features

VA is impaired to a variable degree

Papillitis associated with peripapillary and macular oedema

A macular star composed of hard exudates

After several months VA improve

The fellow eye occasionally becomes involved but recurrences in the same eye are uncommon

Cont…

Cont…..

Parinaud oculoglandular syndrome

Focal choroiditis

Intermediate uveitis

Exudative maculopathy

Retinal vascular occlusion

panuveitis

Treatment

The most effective antbiotics are rifampin ,ciprofloxacin,intramuscular Gentamicin and Trimethoprim -sulfamethoxazole

Herpes simplex virus

A double –stranded DNA virus

HSV-1 is most commonly found in lesion of oral ,the eye and on skin

HSV-2 is found in lesion on the genitalia and the skin of the thighs

Transmitted during periods of asymptomatic shedding of virus by infected persons

Ocular clinical features

Conjunctivitis ,karatitis and chorioretinitis

Lateral blepharoconjunctivitis

Follicular conjunctivitis

Recurrent HSV karatitis such as stromal scar formation and induced astigmatism may lead to amblyopia

Cont…

Cont..

Cont..

Treatment

For systemic or posterior ocular disease ,the mainstay of therapy is intravenous acyclovir

Conjunctival or corneal involvement should be managed with the use of topical trifluridine 1%

Epithelial keratis is treated with topical antiviral therapy ,trifluridine solution every 2h or vidarabine

Rubella

Acute viral infection of children

Characterized by low-grade fever ,rash and lymphadenopathy

Infection during pregnancy can result in fetal infection with severe congenital defects

Transmission occurs by droplets from respiratory secretions

Ocular clinical features

Conjunctivitis ,karatitis and rarely retinitis

Retinitis occurs rarely and presents with atrophy ,hypoplasia of the ciliary body and hypoplasia of the iris dilator muscle

The characteristic “salt-and –pepper “retinopathy typically appears in the macula and periphery of both eye

Cataract ,microphthalmia ,glaucoma ,anterior uveitis and corneal haze

Cont…

Treatments

Cataract surgery can be performed

Varicella –Zoster

Resulting from primary infection with varicella-zoster virus(VHV)

Spread by airborne droplets and direct contact with infected lesions

Congenital varicella results from transplacental spread of the virus by an infected mother

Ocular clinical features

Papillary conjunctivitis and Conjunctival vesicle formation

Epithelial karatitis or mild nongranulomatous anterior uveitis

Internuclear ophthalmoplegia and oculomotor palsy

Cranial nerve palsies

Cont……

Dermatitis of eyelids leads to secondary bacterial infections

Follicular conjunctivitis ,episcleritis and scleritis

Elevated intraocular pressure

Optic neuritis and the retinal necrosis

Cont…

Treatment

Anterior uveitis 0r stromal karatitis with decreased VA may require therapy with topical corticosteroids

Systemic acyclovir

The cutaneous lesion can be treated with moist compress and antibiotic ointments

References

Clinical ophthalmology ,Jack J Kanski(sixth edition )

Handbook of pediatric eye and systemic disease ,Kenneth W. Wright , Peter H .Spiegel ,Lisa H. Thomp

Pediatric ophthalmology ,Dr. P.K. Mukherjee

Pediatric ophthalmology ,M. Edward Wilson ,Rupal H. Trivedi