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Hereditary fundus dystrophy

. Describe the fundus photo in 2 wordsFlecked retina. DDx of flecked retina:-. Fundus flavimaculatusFundus punctata albescensFundus albipunctatusFamilial dominant drusenBenign fleck retina syndromeCone-rod dystrophy. 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 progressiveRetinitis punctata albescens acts like retinitis pigmentosa and results 29874

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Hereditary fundus dystrophy

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    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……..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: AD alone AR XL Abnormal fundus: 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?

    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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