The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/
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21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... endocrinology #peds
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
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
Periorbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Dacryoadenitis: infection of the lacrimal glands
b. Conjunctivitis: inflammation of the
Periorbital Cellulitis ... #Periorbital #Cellulitis ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Orbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Chemosis: Edema of the bulbar conjunctiva
b. Panopthalmitis: inflammation of all
Orbital Cellulitis ... Blindness #Orbital #Cellulitis ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... pathophysiology #peds
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
focal melting) -> Retinopathy ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
> Keratoconus Signs ... / Symptoms / Complications ... Ring • Munson's sign ... • Rizutti's Sign ... 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