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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