1. Hereditary fundus dystrophy
By: Marwan Abouammoh

2. Describe the fundus photo in 2 words
Flecked retina

3. DDx of flecked retina:-
Fundus flavimaculatus
Fundus punctata albescens
Fundus albipunctatus
Familial dominant drusen
Benign fleck retina syndrome
Cone-rod dystrophy

4. What is the prognostic significance of a diagnosis of fundus albipunctatus vs. retinitis punctata albescens?
Fundus albipunctatus is a form of congenital stationary night blindness, not progressive
Retinitis punctata albescens acts like retinitis pigmentosa and results in progressive visual field loss, night-blindness, and retinal vascular attenuation.

5. What is characteristic about the ERG in fundus albipunctatus which distinguishes it FROM retinitis punctata albescens?
Patients with fundus albipunctatus may have regeneration of the scotopic ERG waveforms with prolonged dark adaptation. Regeneration of the ERG does not occur with retinitis punctata albescens.

6. What is the form of transmission of fundus flavimaculatus. AR……
What is the form of transmission of fundus flavimaculatus? AR……..EOG: subnormal What is the pathology behind the disease? What other disease resembles it in pathology, & mode of transmission, describe its foveal appearance. ERG? EOG? Prognosis?

8. CSNB Normal fundus: Abnormal fundus: AD alone AR XL Oguchi dis
Fundus albipunctatus

10. R.P. DDx of R.P. like picture: Phenothiazine toxicity
Chloroquine toxiciy
Congenital rubella
Syphlitic retinopathy
After resolution or repair of R.D.
Most common cause of central drop of vision?

11. R.P. Bone specule pigmentation Arteriolar attenuation Waxy disc pallor
C/Fx:
Low V.A.
Nyctalopia
Progressive constriction visual field

12. Ocluar associations:
PSCC
CME
Myopia KC
OAG
Optic nerve drusen

13. Few causes for RP are: Fahr disease Bardet-Biedl syndrome
Lowe syndrome
Usher's syndrome
Subacute necrotising encephalomyelopathy
Pyruvate carboxylase deficiency
MELAS Hereditary sensory-motor neuropathy type 7
Rud's syndrome
Refsum's disease
Kearns-Sayre syndrome
Carbohydrate deficient glycoprotein syndrome type 1a
Loken Senior syndrome
Hallervorden-Spatz disease
Abetalipoproteinaemia
Homocarnosinase deficiency
Mirhosseini-Holmes-Walton syndrome
Shwachman-Diamond syndrome
HARP syndrome Alström syndrome
Medullary cystic renal disease
Stargardt's disease
Sjogren-Larsson syndrome
Tapetochoroidal dystrophy

14. Describe the fundus photo in 3 words
Bull’s eye maculopathy

15. DDx of Bull’s eye: Stargardt disease Cone dystrophy
Chloroquine toxicity……….???????
ARMD
Chronic macular hole

16. Diagnosis?
Stage? Inheritance? Electrophysiology? Prognosis?

17. Pre-vitelliform
EOG findings only
Vitelliform
Egg-yolk macular lesion
Pseudohypopyon
Partial abs.
Vitelliruptive
Scrambled appearance
End-stage
Scarring or atrophy

18. DDx of Vitelliform lesion -Adult foveomacular dystrophy -Central serous retinopathy with fibrinous exudate -Pigment epithelial detachment -Coalescence of basal laminar drusen -Solar retinopathy
DDx of Atrophic stage -Age-related macular degeneration (ARMD) -Stargardt disease -Adult foveomacular dystrophy -Chronic central serous retinopathy (CSR)

19. Diagnosis? Bilaterality? Inheritance? Presentation? ERG? EOG? Prognosis? Females?

21. Diagnosis? Inheritance? Presentation? ERG? EOG? Prognosis? ttt?

22. Diagnosis? Inheritance? ERG? EOG? Presentation? Prognosis?

25. describe. ddx.

26. Leading edge of flourescien? Washout phenomenon?
Uveitic entities that can be complicated be CNVM:
VKH
Serpiginous
S.O.
MFC with pan uveitis

27. Optic nerve involvement in leukemia:
Papilledema: v.a. loss v. mild (high ICP)
Leukemic infiltrates:
Prepapillary
Retrolaminar (mild swelling)…profound drop of v.a. ttt?