Retinal And Other Disorders

coloboma

•Failure of closure of fetal fissure in development

•

•Typically inferonasal in position

•May be associated with microphthalmia

•Autosomal dominant

Optic Nerve HypoplasiaSepto-optic dysplasia

Optic Disc Abnormalities

Retinal Pigment Epithelium

Congenital Infections-TORCHES

Maternal infection during pregnancy may have significant consequences to the developing fetus.

Toxoplasmosis

Other

Rubella

CytoMegaloVirus

HErpes virus

Syphilis

Photoreceptor Disorders

Congenital Stationary Night Blindness

Achromatopsia

Lebers Congenital Amaurosis

Retinitis Pigmentosa

Cone Dystrophy

These can be split into

•Stationary Conditions

•Affecting Rods primarily

•Affecting Cones primarily

•

•Progressive conditions

•Affecting Rods primarily

•Affecting Cones primarily

Congenital stationary night-blindness (rods)

None progressive

Variable vision

Normal looking retina

Moderate myopia

Nystagmus

Strabismus

Variable inheritance

Leber’s Congenital Amaurosis

Roving eye movements

Poor pupil response

Very poor vision

Initially normal looking retina

ERG is undetectable

Multiple gene’s

Gene therapy using viral vector – RPE 65 has had proof of concept and trials are underway.

Retinitis Pigmentosa

Predominantly rod dysfunction

Diverse range of inheritance

50% with no family history

Usually isolated but may have associations with other conditions

e.g. hearing loss – Ushers Sydrome

cardiac disease – Kearns Sayre

Often initially asymptomatic, but progressive

Peripheral visual field loss

Night blindness

Cataract

Macular oedema

Progressive Cone Dystrophy

Usually presents later that the stationary disorders

Photophobia

Nystagmus

Progressive loss of vision

Central scotoma (compare with optic neuropathies)

May have a ‘bulls eye’ macular appearance

Principally cone dysfunction as on ERG

Diverse range of inheritance

Retinal Pigment Epithelium Disorders

Stargardts - Autosomal recessive (ABCA4)

Initially presents with central visual loss in teen age years with an abnormal looking macular. Then develop white flecks at the level of the RPE and macular atrophy.

Flash ERG may be normal

mfERG is usually abnormal

Bests Disease - Autosomal Dominant (BEST1)

ERG is often normal

EOG is abnormal with an absent ‘light rise’

Vision is often good even with a typical vitelliform lesion (stage 2)

Vision declines beyond stage 2

Albinism - ocular - x linked = foveal hypoplasia

Choroidal Dystrophies

Choroideremia  - X Linked recessive (Xq21)

Progressive RPE atrophy

Early onset presenting in first decade

Night blindness

Progressive peripheral field loss

Very reduced ERG