The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... pathophysiology #peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics
Diabetic Retinopathy: Pathogenesis and clinical findings

Mild Non-proliferative DR
 • Outpouchings of the weakened capillary walls or
Diabetic Retinopathy ... #Diabetic #Retinopathy ... #Diabetes #ophthalmology ... #diagnosis #complications
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
Chronic Hypertensive Retinopathy ... #Hypertensive #Retinopathy ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Retinopathy of Prematurity: Pathogenesis and clinical findings
Increased metabolic demand of growing eye
-> Excessive VEGF production ->
Retinopathy of Prematurity ... -> Neovascular complications ... detachment #Retinopathy ... #Prematurity #peds ... pathophysiology #ophthalmology
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
focal melting) -> Retinopathy ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... pathophysiology #diagnosis ... #symptoms #signs ... #peds #pediatrics