FLECKED RETINA

SYNDROMEDR SYED ZEESHAN AHMED

DIFFERENTIAL DIAGNOSIS???

• introduced by Krill and Klien • Characterized by multiple

yellowish-white lesions of various size and configuration, without vascular or optic nerve abnormalities

• Fundus flavimaculatus• Familial dominant drusen • Fundus albipunctatus• Fleck retina of Kandori• Fundus punctata albescens

OTHER CONDITIONS• Hyperoxaluria type 1• Alport syndrome • Bietti-crystalline-corneoretinal-

dystrophy• Sjogren-Larsson syndrome • pantothenate kinase-associated

neurodegeneration • Leber congenital amaurosis• Bardet-Biedl syndrome

FUNDUS FLAVIMACULATUS

• Variant of Stargardt disease • most common macular dystrophy• progressive form of juvenile macular

degeneration• characterized by the accumulation of

lipofuscin within the RPE

• 3 types:oSTGD1 (AR) most common, caused

by mutation in the gene ABCA4oSTGD3 (AD) oSTGD4 (AD)

• prognosis for the maculopathy is poor

• Seen typically in childhood or adolescence, but sometimes later

• Patients with flecks only in the early stages have a relatively good prognosis and may remain asymptomatic for many years until the development of macular disease

DIAGNOSIS• Gradual impairment of central vision that

may be out of proportion to examination findings

• complaints of reduced colour vision and impairment of dark adaptation

• posterior pole characteristically has yellowish pisciform, round, and linear subretinal lipofuscin deposits which often extend to the equator

MACU

MACULAR MOTTLING

SNAIL SLIME MACULOPATHY

QUASI BULL’S EYE MACULOPATHY BEATEN BRONZE APPEARANCE PARAMACULAR REGION

GEOGRAPHIC ATROPHY

POSTERIOR POLE FLECKS

INVESTIGATION• OCT showing flecks and atrophy

FAF showing hyperautoflourescent flecks and

hypoautofloursecent macula

FLOURESCEIN ANGIOGRAPHY

• classic feature is a ‘dark choroid’ due to masking of background choroidal fluorescence by diffuse RPE abnormality

• macula shows mixed hyper- and hypofluorescence

• Fresh flecks show early hypofluorescence due to blockage, and late hyperfluorescence due to staining

• old flecks show RPE window defects

Central visual field loss

• ERG: Photopic is normal to subnormal, scotopic may be normal.

• EOG is commonly subnormal, especially in advanced cases.

TREATMENT• General measures should be considered as

for retinitis pigmentosa; protection from excessive high energy light exposure may be particularly important.

• Vitamin A supplementation is avoided as it may accelerate lipofuscin accumulation.

• Gene therapy and stem cell trials have been initiated and show promising results.

FUNDUS ALBIPUNCTATUS

• AR or AD condition • caused by mutation in the RLBP1 gene.• Stationary disease • multitude of subtle, tiny yellow– white

spots at the posterior pole, sparing the fovea – sometimes the macula – and extending to the periphery.

• In contrast to retinitis punctata albescens, the retinal blood vessels, optic disc, peripheral fields and visual acuity are believed to remain normal

• Fluorescein angiography shows mottled hyperfluorescence, indicating depigmentation of the RPE .

• The ERG is variably abnormal; both cones and rods may be affected.

FAMILIAL DOMINANT DRUSEN

• Doyne honeycomb choroiditis• Malattia leventinese• early-onset variant of age-related macular

degeneration.• Onset is around 2nd to 4th decade of life• Inheritance is AD • mutations in the gene EFEMP1

• Asymptomatic yellow–white, elongated, radially orientated drusen develop in the second decade; they may involve the disc margin and extend nasal to the disc

• Visual symptoms may occur in the fourth to fifth decades due to RPE degeneration, geographic atrophy or occasionally CNV.

• The ERG is normal, but the EOG is subnormal in patients with advanced disease

BENIGN FAMILIAL FLECK RETINA

• rare AR disorder• Asymptomatic• Numerous diffusely distributed yellow–

white polymorphous lesions spare the fovea and extend to the far periphery

• flecks autofluoresce, and are probably composed of lipofuscin.

• The ERG is normal, and the prognosis excellent

Fundus punctata albescens

• Scattered whitish-yellow spots • most numerous at the equator• Usually sparing the macula• associated with arteriolar attenuation• similar to the spots in fundus

albipunctatus but Nyctalopia and progressive field loss occur

FLECKED RETINA OF KANDORI

•  Irregular flecks of variable size are distributed in the equator and posteriorly up to but excluding the macula. 

• Some disturbances of the RPE are seen and some degree of night blindness is usually present

HYPEROXALURIA TYPE 1

• Oxalate crystal deposition can cause a 'fleck retina' picture sometimes described as a crystalline retinopathy.

• Retinal toxicity leads to early and progressive vision loss.

•  The RPE may respond with hyperpigmentation in the form of 'ringlets' in the posterior pole

ALPORT SYNDROME• characterized by chronic renal failure,

often associated with sensorineural deafness

• scattered yellowish punctate flecks in the perimacular area, which are often subtle and larger peripheral flecks, some of which may become confluent

• ERG is normal, and the prognosis for vision is excellent

Pantothenate Kinase-Associated Neurodegeneration• symptoms of extrapyramidal disease

beginning in the first decade of life and rapid progression to loss of ambulation in about 15 years

• Some patients have a fleck-like retinopathy. Optic atrophy may be present in advanced cases

Sjogren-Larsson Syndrome

• glistening white intraretinal dots which may be concentrated in the macula

• macula may have ‘punched out’ lesions• fluorescein angiography reveals a mottled

hyperfluorescence.• cornea often has grayish stromal ,

punctate keratitis • Visual acuities can range from about 20/40

to finger counting. • The retinal changes may be progressive

but EOG and ERG studies are normal

LEBERS CONGENITAL AMAUROSIS

• Early-onset retinal dystrophy causing infantile or early childhood blindness

• Severe reduction in vision accompanied by nystagmus, abnormal pupillary responses, and photophobia

• The ERG is reduced or absent early and permanently. 

• Final visual acuity is seldom better than 20/400 and perhaps one-third of affected individuals have no light perception

Bietti Crystalline Corneoretinal Dystrophy• Refractile glistening intraretinal crystals

at all levels• The yellow-white crystals are also seen in

the peripheral cornea and in the limbus.  • Symptoms of night blindness and early

vision loss begin about the third decade.  •  Central acuity can be normal until late in

the disease• Night blindness is progressive as is the

narrowing of the visual fields

• ERG may show lack of rod and cone responses late in the disease and color vision may be lost

• EOG becomes abnormal in late stages.

Bardet-Biedl syndrome• Progressive rod-cone dystrophy• Vision loss has an early onset and usually

progresses rapidly with severe loss of central and peripheral vision by the second or third decade of life. 

• Night blindness may be evident by 7 or 8 years of age.

• Clinically it appears as atrophy with a paucity of pigment but later the bone spicule pattern of hyperpigmentation appears.

• The macula can appear atrophic and sometimes has a bull's eye pattern.

• Optic atrophy and retinal arteriole narrowing may be seen

MANAGEMENT• Low vision aids may be useful when

macular disease is present• Recent report describes

improvement in peripheral fields and rod function following administration of high-dose oral 9-cis-beta-carotene

FUNDUS FLAVIMUCALUTUS

FUNDUS ALBIPUNCTATUS

FUNDUS PUNCTATA ALBESCENS

FAMILIAL DOMINANT DRUSEN

ONSET Late onset childhood 1ST decade of life

2ND to 4TH decade

INHERITANCE

AR or AD AR or AD AR AD

CLINICAL PICTURE

Macula involved extending to the equator

Widespread flecks sparing foveal region

Macula spared, arteriolar attenuation

Flecks extending to the disc

PROGRESSION

Progressive visual acuity and visual field loss

Stationary Visual field loss

Visual loss due to RPE degeneration

FFA Dark choroid effect Mottled hyperflourescence

Flecks hyperflouresce

More extensive drusens on FFA

ERG Scotopic normal, photopic normal to subnormal

Abnormal scotopic and photopic

Scotopic abnormal

Normal

Q & A’S

What is the characteristic

fluorescein finding of

fundus flavimaculatus?

Dark choroid effect

Most probable diagnosis for Retinal flecks with non progressive

visual field loss and Abnormal ERG???

Fundus albipunctatus

What is the age of onset of familial dominant drusen?

2nd to 4th decade of life

Partially functional ABCA4 Gene is a feature of ??

Stargardt disease

THANK YOU