8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
Pathogenesis and clinical ... causes fluffy white ischemic ... #Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... (parkinsonian signs ... hyperorality, - 25% genetic ... Unique or multiple ischemic ... Workup #Diagnosis #Geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
Pathogenesis and clinical ... edema caused by ischemia ... Occlusion #CRAO #pathophysiology ... #ophthalmology ... #diagnosis #signs
Age Related Macular Degeneration: Pathogenesis and clinical findings

Photoreceptor atrophy 
-> Extracellular debris (drusen) from RPE atrophy/metabolism
Pathogenesis and clinical ... choroidal bed -> Ischemia ... RPE -> Loss of photo ... MacularDegeneration #pathophysiology ... #ophthalmology
Primary Open-Angle Glaucoma: Pathogenesis and Clinical Findings
 • Risk factors -> Incr IOP, Incr age, African-American
Pathogenesis and Clinical ... vascular disease • Genetic ... nerve head - Ischemic ... OpenAngle #Glaucoma #pathophysiology ... #ophthalmology