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HEREDITARY RETINAL DYSTROPHIES. 1. Photoreceptor dystrophies. Retinitis pigmentosa. Retinitis punctata albescens. Fundus albipunctatus. Cone dystrophy. Leber congenital amaurosis. 2. Retinal pigment epithelial dystrophies. Best vitelliform macular dystrophy.

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slide1

HEREDITARY RETINAL DYSTROPHIES

1. Photoreceptor dystrophies

  • Retinitis pigmentosa
  • Retinitis punctata albescens
  • Fundus albipunctatus
  • Cone dystrophy
  • Leber congenital amaurosis

2. Retinal pigment epithelial dystrophies

  • Best vitelliform macular dystrophy
  • Adult best vitelliform macular dystrophy
  • Stargardt macular dystrophy
  • Fundus flavimaculatus
  • Familial dominant drusen
  • Sorsby pseudo-inflammatory macular dystrophy
  • North Carolina macular dystrophy
  • Butterfly macular dystrophy
slide2

Retinitis Pigmentosa

1. Inheritance

  • Sporadic (23%)
  • Dominant (43%)
  • Recessive (20%)
  • X-linked recessive (8%)
  • Uncertain (6%)

2. Presents- usually prior to 30 years

3. Prognosis- dominant worst, x-linked best

4. ERG- reduced

slide3

Progression of retinitis pigmentosa

  • Perivascular ‘bone-spicule’
  • pigmentation
  • Fine dust-like pigmentation
  • Arteriolar attenuation
  • Initially mid-peripheral
  • Anterior and peripheral
  • spread
  • Optic disc pallor
  • Maculopathy
  • Unmasking of large
  • choroidal vessels
slide4

Ocular associations of retinitis pigmentosa

Keratoconus

(uncommon)

Cataract

(very common)

Vitreous degeneration

(common)

Optic disc drusen

(uncommon)

Myopia

(common)

Open-angle glaucoma

(uncommon

slide5

Atypical retinitis pigmentosa

Quadrantic

Sectorial

Pericentric

Paravenous

slide6

Retinitis punctata albescens

Probably variant of retinitis

pigmentosa

Presents - usually under age 30years

Prognosis - poor

ERG - reduced

  • Scattered white dots extending
  • from posterior pole
  • to periphery
  • Subsequent development of
  • ‘bone-spicule’ pigmentation
slide7

Fundus albipunctatus

Inheritance - recessive

Congenital stationary night blindness

Prognosis - excellent

ERG - reduced

  • Multitude of tiny yellow-white spots
  • Extend from posterior pole to mid-periphery
  • Fovea spared
slide8

Cone dystrophy

Inheritance

  • Usually sporadic
  • Occasionally autosomal dominant or x-linked recessive

Presents - first to third decade

Prognosis - guarded

ERG - reduced photopic, normal scotopic

  • ‘Bull’s eye’ macular lesion
  • May be associated with golden tapetal reflex
  • Later mild ‘bone-spicule’ pigmentation
  • Very late geographic macular atrophy
slide9

Leber congenital amaurosis

Inheritance - usually autosomal recessive

Presentation - frequently perinatal

Prognosis - very poor

ERG - non-recordable

  • Initially fundus may be normal
  • Oculodigital syndrome
  • Peripheral chorioretinal atrophy
  • and granularity
  • Afferent pupillary defect
slide10

Best vitelliform macular dystrophy

Inheritance - autosomal dominant

Presents - first decade

Signs - very variable

  • Unilateral or bilateral
  • Single or multiple
  • Macular or eccentric

Prognosis - guarded

EOG - severely subnormal

Mulifocal Best disease

slide11

Stage 2 Best vitelliform macular dystrophy

  • During first to second decade
  • ‘Egg-yolk’ or ‘sunny-side-up’ macular lesion
  • VA - normal or slight decrease
slide12

FA of stage 2 Best vitelliform macular dystrophy

Blockage of background choroidal fluorescence corresponding to lesion

slide13

Stage 3 Best vitelliform macular dystrophy

  • Partial absorption and pseudohypopyon
  • VA - slight decrease
slide14

Stage 4 Best vitelliform macular dystrophy

  • ‘Scrambled egg’ appearance
  • VA - moderate decrease

FA shows hyperfluorescence due to staining

slide15

Stage 5 Best vitelliform macular dystrophy

  • Macular scar or atrophy
  • VA - moderate to severe decrease
slide16

Adult Best vitelliform macular dystrophy

Inheritance - dominant

Presents - fourth to fifth decades, but may be asymptomatic

Prognosis - usually good

EOG - normal or slightly abnormal

  • Round or oval, slightly elevated, yellow, subfoveal lesion
  • 1/3 to 1/2 disc diameter in size
slide17

Stargardt macular dystrophy

Inheritance - usually recessive

Presents - first to second decade

Prognosis - poor

ERG - reduced in advanced cases

  • Oval macular ‘snail-slime’ or ‘ beaten-bronze’
  • Occasionally surrounded by yellow-white flecks
  • Eventual atrophic maculopathy
  • VA severe decrease
slide18

Fundus flavimaculatus

Inheritance - usually recessive

Presents - fourth to fifth decades

Prognosis - good in most cases

ERG - reduced in advanced cases

  • Ill-defined, yellow-white flecks
  • Extending from posterior pole to mid-periphery
  • Vermilion colour fundus in about 50%
  • Eventual atrophic maculopathy in some cases
slide19

FA of fundus flavimaculatus

  • Flecks are hyperfluorescent due to RPE atrophy
  • Absence of normal background fluorescence (dark choroid)
slide20

Familial dominant drusen

Presents - second to third decade, no symptoms

Prognosis - usually good

ERG - normal

  • Large, discrete, round, slightly raised, yellow lesions
  • Usually symmetrical distribution
  • Mainly at macula and peripapillary
slide21

Sorsby pseudo-inflammatory macular dystrophy

Inheritance - dominant

Presents - second to fourth decade

Prognosis - very poor

ERG - normal

Progression

  • Yellow-white confluent spots
  • Along arcades and nasal to disc
  • Eventual CNV and exudative
  • maculopathy
slide22

North Carolina macular dystrophy

Inheritance - dominant

Presents - second decade

Prognosis - variable

ERG - normal

Early stage

Progression

Yellow-white spots at

periphery and macula

Exudative or atrophic

maculopathy

Confluence of

macular lesions

slide23

Butterfly macular dystrophy

Inheritance - usually dominant

Presents - fourth to fifth decades

Prognosis - usually good

ERG - normal

Yellow pigment at fovea arranged in

triradiate pattern