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Hereditary fundus dystrophy

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Presentation on theme: "Hereditary fundus dystrophy"— Presentation transcript:

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?

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