12 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... - Decreased visual ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
Manifestations Decr Visual ... #Xeropthalmia #pathophysiology ... #ophthalmology ... #diagnosis #signs
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 #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Orbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Chemosis: Edema of the bulbar conjunctiva
b. Panopthalmitis: inflammation of all
defect -> Decreased visual ... Orbital #Cellulitis #pathophysiology ... #ophthalmology ... #diagnosis #signs
Periorbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Dacryoadenitis: infection of the lacrimal glands
b. Conjunctivitis: inflammation of the
pupillary reflex and visual ... Periorbital #Cellulitis #pathophysiology ... #ophthalmology ... #diagnosis #signs
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
Disc -> Decreased Visual ... Occlusion #CRAO #pathophysiology ... #ophthalmology ... #diagnosis #signs
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
damage & blindness Signs ... & clouding • Visual ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... 2 cm below the costal ... #Examination #Peds