1. 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

2. 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

3. Progression of retinitis pigmentosa
Fine dust-like pigmentation
Perivascular ‘bone-spicule’
pigmentation
Arteriolar attenuation
Initially mid-peripheral
Anterior and peripheral
spread
Optic disc pallor
Maculopathy
Unmasking of large
choroidal vessels

4. Vitreous degeneration
Ocular associations of retinitis pigmentosa
Keratoconus
(uncommon)
Cataract
(very common)
Vitreous degeneration
(common)
Optic disc drusen
(uncommon)
Open-angle glaucoma
(uncommon
Myopia
(common)

5. Atypical retinitis pigmentosa
Quadrantic
Sectorial
Pericentric
Paravenous

6. 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

7. 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

8. Cone dystrophy Inheritance Presents - first to third decade
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

9. 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

10. 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

11. Stage 2 Best vitelliform macular dystrophy
During first to second decade
‘Egg-yolk’ or ‘sunny-side-up’ macular lesion
VA - normal or slight decrease

12. FA of stage 2 Best vitelliform macular dystrophy
Blockage of background choroidal fluorescence corresponding to lesion

13. Stage 3 Best vitelliform macular dystrophy
Partial absorption and pseudohypopyon
VA - slight decrease

14. Stage 4 Best vitelliform macular dystrophy
FA shows hyperfluorescence due to staining
‘Scrambled egg’ appearance
VA - moderate decrease

15. Stage 5 Best vitelliform macular dystrophy
Macular scar or atrophy
VA - moderate to severe decrease

16. 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

17. 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

18. 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

19. FA of fundus flavimaculatus
Flecks are hyperfluorescent due to RPE atrophy
Absence of normal background fluorescence (dark choroid)
FA of fundus flavimaculatus

20. 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

21. 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

22. North Carolina macular dystrophy
Inheritance - dominant
Presents - second decade
Prognosis - variable
ERG - normal
Early stage
Progression
Yellow-white spots at
periphery and macula
Confluence of
macular lesions
Exudative or atrophic
maculopathy

23. Butterfly macular dystrophy
Inheritance - usually dominant
Presents - fourth to fifth decades
Prognosis - usually good
ERG - normal
Yellow pigment at fovea arranged in
triradiate pattern