Ace Your Pediatrics Classes and Exams with Picmonic: #1 Visual Mnemonic Study Tool for Medical (MD/DO) Students

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Pediatrics | Medical (MD/DO) School Study Aid


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Genetic & Metabolic Disorders
72 Picmonics to Learn | 2 hrs 35 mins

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Hyperlipoproteinemia (Type V Dyslipidemia)
Pathophysiology
Increased Cholesterol
Increased VLDL
Increased Chylomicrons
Increased Triglycerides
Increased Risk of Cardiovascular Disease
Clinical Features
Xanthomas
Acute Pancreatitis
Diagnosis
Lipid Panel
Management
Lifestyle Changes
Statins
Fibrates
2 mins
Adrenoleukodystrophy
Pathophysiology
X-linked Recessive
Peroxisome Dysfunction
ABCD1 Mutation
Presentation
Adrenal Insufficiency
Leukoencephalopathy
Testicular Insufficiency
Diagnosis
Increased Very Long-chain Fatty Acids (VLCFA)
Demyelination
Genetic Testing
Treatment
Lorenzo's Oil
Hematopoietic Stem Cell Transplantation
3 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
2 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
2 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Simian Crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
2 mins
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
2 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
3 mins
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
2 mins
Angelman's Syndrome
Mechanism
Paternal Imprinting
Deletion of Chromosome 15q (Maternal Deletion)
Signs And Symptoms
Happy Puppet Syndrome
Inappropriate Laughter
Ataxia
Severe Intellectual Disability (Mental Retardation)
Seizure
Abnormal EEG
2 mins
Prader-Willi Syndrome
Mechanism
Maternal Imprinting
Deletion of Chromosome 15q (Paternal Deletion)
Signs And Symptoms
Hyperphagia
Truncal Obesity
Hypogonadism
Undescended Testicles (Cryptorchidism)
Intellectual Disability (Mental Retardation)
Neonatal Hypotonia (Floppy Baby)
Almond Shaped Eyes
Narrow Bifrontal Diameter
Thin Upper Lip
3 mins
Thymic Aplasia (DiGeorge Syndrome)
Pathophysiology
DiGeorge Syndrome
22q11 Deletion
Failure to Develop Third and Fourth Pharyngeal Pouches
Signs and Symptoms
Undeveloped Thymus
T Cell Deficiency
Recurrent Viral and Fungal Infections
Undeveloped Parathyroids
Hypocalcemia
Tetany
Aortic Defects
Congenital Heart Defects
Diagnosis
Absent Thymic Shadow on CXR
2 mins
Cri Du Chat
Pathophysiology
Congenital Deletion of Short Arm of Chromosome 5p
Signs and Symptoms
High Pitched Cry/Mewing
Microcephaly
Hypotonia
Difficulty Sucking and Swallowing
Epicanthal Folds
Widely Spaced Eyes
Wide & Flat Nasal Bridge
High Arched Palate
Intellectual Disability (Mental Retardation)
Cardiac Abnormalities
2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
2 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability (Mental Retardation)
Extreme Friendliness With Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Beighton Criteria
2 mins
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
53 secs
Fructose Intolerance
Pathophysiology
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Clinical Features
Hypoglycemia
Vomiting
Jaundice
Cirrhosis
Autosomal Recessive
2 mins
Classic Galactosemia
Pathophysiology
Autosomal Recessive
Galactose-1-phosphate uridyltransferase is Absent (GALT)
Impaired Galactose-1-P to UDP-Galactose
Galactitol Accumulation in Lens
Signs and Symptoms
Infantile Cataracts
Failure to Thrive
Hepatomegaly
Jaundice
Intellectual Disability (Mental retardation)
Increased Risk E. Coli Sepsis
2 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to galactose 1P
Galactose appears in blood and urine
Benign
Infantile Cataracts
Failure to develop a social smile
2 mins
Alkaptonuria
Autosomal Recessive
Deficiency of homogentisic acid oxidase
In degradative pathway of tyrosine to fumarate
Homogentisic acid harmful to cartilage
Arthritis
Dark Connective Tissue
Urine turns black on standing
1 min
Hartnup Disease
Pathophysiology
Autosomal Recessive
Neutral amino acids
Defective Transporter
Renal and Intestinal cells
Signs and Symptoms
Causes tryptophan excretion in urine
Leads to Pellagra
Diarrhea
Dermatitis
Dementia
2 mins
Phenylketonuria (PKU)
Pathophysiology
Decreased phenylalanine hydroxylase
Decreased tetrahydrobiopterin cofactor
Autosomal Recessive
Tyrosine Becomes Essential
Phenylalanine found in Nutrasweet
Symptoms
Musty or mousy body odor
Growth retardation
Seizures
Intellectual Disability (Mental Retardation)
Hypopigmentation
2 mins
Maternal Phenylketonuria
Pathophysiology
Lack of Proper Diet During Pregnancy; Like NutraSweet
Signs and Symptoms
Congenital Heart Defects
Growth Retardation
Intellectual Disability (Mental Retardation)
Microcephaly
1 min
Maple Syrup Urine Disease
Pathophysiology
Defect in alpha ketoacid dehydrogenase
Blocked degradation of branched chain amino acids
Leucine
Isoleucine
Valine
Signs and Symptoms
Seizures
Intellectual Disability (Mental Retardation)
1 min
Pyruvate Dehydrogenase Deficiency
Characteristics
Acquired from Thiamine Deficiency
Backup of Alanine and Pyruvate
Symptoms and Complications
Neurologic Defects
Lactic Acidosis
Interventions
Ketogenic Nutrients
Lysine and Leucine (Ketogenic Nutrients)
56 secs
Ornithine Transcarbamylase Deficiency
Pathophysiology
Most Common Urea Cycle Disorder
X-Linked Recessive
Signs and Symptoms
Hyperammonemia
Decreased BUN
Carbamoyl Phosphate is Converted to Orotic Acid
Pyrimidine Synthesis Pathway
Evident in Babies
3 mins
Cystinuria
Pathophysiology
Defect of Renal Tubular Amino Acid Transporter
C-O-L-A Acronym
Cystine
Ornithine
Lysine
Arginine
Signs and Symptoms
Excess Cystine in Urine
Hexagonal Crystals
Staghorn Kidney Stones
Diagnosis
Cyanide Nitroprusside Test
Treatment
Acetazolamide to Alkalinize the Urine
3 mins
Orotic Aciduria
Pathophysiology
Autosomal Recessive
Defect in UMP Synthase
De Novo Pyrimidine Synthesis Pathway
Symptoms
Increased Orotic Acid in Urine
Megaloblastic Anemia
No Response to B12 or Folate
Non-Hyperammonemic
Failure to Thrive
Treatment
Oral Uridine Monophosphate
2 mins
Hyperammonemia
Pathophysiology
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Somnolence
Slurring of Speech
Tremor
Cerebral Edema
Vomiting
Blurring of Vision
Treatment
Limit Protein in Diet
Lactulose
Benzoate Binds Amino Acid for Excretion
Phenylbutyrate
4 mins
Homocystinuria
Pathophysiology
Autosomal Recessive
4 Forms
Cystathionine Synthase Deficiency
Decreased Affinity of Cystathionine Synthase For Vitamin B6
Methionine Synthase Deficiency
Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
Signs and Symptoms
Marfanoid Body Habitus
Kyphosis
Lens Subluxation (Inferior)
Intellectual Disability (Mental Retardation)
Atherosclerosis
Consideration
Dietary Deficiencies Can Elevate Homocysteine Levels
3 mins
G6PD Mechanism
Turns NADP+ to NADPH
NADPH Used by Glutathione Reductase
Detoxifies Free Radicals and Peroxides
X-linked Recessive
2 mins
G6PD Deficiency
X-linked Recessive
Hemolytic Anemia
Inflammatory Response
Fava Beans
Sulfonamides
Primaquine
Anti TB Drugs
Heinz Bodies
Bite Cells
Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Adenosine Deaminase Deficiency
Adenosine to inosine
Excess ATP
Inhibition of Ribonucleotide Reductase
Prevents DNA synthesis
Decreases B Cells and T Cells
Major cause of SCID
1 min
Lesch-Nyhan Syndrome
X-linked Recessive
Absence of HGPRT
Hypoxanthine to IMP
Guanine to GMP
Excess uric acid
Gout
Retardation
Self-mutilation
Choreoathetosis
PRPP is increased
2 mins
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
2 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
2 mins
Cori Disease
Pathophysiology
Type III Glycogen Storage Disease
Deficiency of Alpha 1, 6 Glucosidase
Debranching Enzyme
Limit-Dextrin Accumulation (In Cytosol Structures)
Signs and Symptoms
Hypoglycemia
Muscle Weakness
Hypotonia
Stunted Growth
Hepatomegaly
Diagnosis
Normal Blood Lactic Acid Levels
Gluconeogenesis Intact
Increased LFT's
Increased Creatinine Kinase (CK/CPK)
Treatment
Continuous Feeding
High Protein Diet
Cornstarch (Uncooked)
3 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
2 mins
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
1 min
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
1 min
Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
1 min
Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
2 mins
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
1 min
I-cell Disease (Inclusion Cell Disease)
Pathophysiology
Mucolipidosis II
Autosomal Recessive
Defective N-acetylglucosaminyl-1-phosphotransferase
Absent Mannose-6-Phosphate on Glycoproteins
Accumulation of Lysosomal Debris
Signs & Symptoms
Coarse Facies
Corneal Clouding
Skeletal Abnormalities
Diagnosis
Increased Plasma Lysosomal Enzymes
Inclusion Bodies
Considerations
Poor Prognosis
3 mins
Cystic Fibrosis Mechanisms
Autosomal Recessive
CFTR chromosome 7
Cl- channel defect
Decreased chloride secretion
Increased Na and water reabsorption
Increased Na and Cl in sweat
Dehydration of mucous layers
2 mins
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Chronic Bronchitis
Nasal Polyps
Pancreatic Insufficiency
Intestinal Obstruction
Malabsorption and Diarrhea
Vitamin Deficiencies
Chronic Hepatic Disease
Infertility in Males
1 min
Cystic Fibrosis Diagnosis and Treatment
Diagnosis
Sweat chloride test > 60 mmol/L
Meconium Ileus
Treatment
N-acetylcysteine
Antibiotic Prophylaxis
Pulmonary Maintenance
Lung transplant
Vitamin Replacement
1 min
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
1 min
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
2 mins
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
2 mins
Bruton's Agammaglobulinemia
Pathophysiology
X-linked Recessive
Defective Bruton Tyrosine Kinase
Blocks B Cell Maturation
Signs & Symptoms
Decreased Immunoglobulins of All Classes
Bacterial Infections After Six Months
Maternal IgG Protects Before Six Months
2 mins
Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
6 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
4 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
2 mins
Leber Hereditary Optic Neuropathy
Characteristics
Mitochondrial Disease
Optic Atrophy
Adolescent Males
Symptoms/Findings
Painless Vision Loss
1 min
MELAS
Characteristics
Mitochondrial Disease
Mnemonic
Mitochondrial Encephalomyopathy
Lactic Acidosis
Stroke-like Episodes
Considerations
Muscle Weakness
Seizures
1 min
Kartagener Syndrome (Primary Ciliary Dyskinesia)
inheritance pattern
Autosomal Recessive
pathogenesis
Immotile Cilia Due to a Dynein Arm Defect
Symptoms
Decreased Male and Female Fertility
Immotile Sperm
Dysfunctional Fallopian Tube Cilia
Increased Risk of Ectopic Pregnancy
Bronchiectasis
Recurrent Sinusitis
Chronic Ear Infections
Conductive Hearing Loss
Situs Inversus (Dextrocardia on Chest X-Ray)
SCreening
Decreased Nasal Nitric Oxide Used as Screening Test
5 mins
Rett Syndrome
Pathogenesis
Sporadic Neurological Disorder
De Novo Mutation of MECP2 on X Chromosome
RISK FACTORS & SYMPTOMS
Seen Almost Exclusively In Girls
Affected Males Die in Utero or Shortly After Birth
Symptoms Usually Appear Between Ages 1-4
Developmental Regression
Motor Impairment
Intellectual Disability (Mental Retardation)
Loss of Verbal Abilities
Seizure
Stereotyped Hand Wringing
Decelerated Head Growth (Microcephaly)
Breathing Problems
Ataxia
5 mins
Dysbetalipoproteinemia (Type III Familial Dyslipidemia)
INHERITANCE
Autosomal Recessive
PATHOGENESIS
Defective Apolipoprotein E (Apo E)
Lab Findings
Increased Chylomicrons
Increased VLDL
Symptoms/Findings
Premature atherosclerosis
Tuberoeruptive xanthomas
Palmar xanthomas
3 mins
Hypertriglyceridemia (Type IV Familial Dyslipidemia)
INHERITANCE
Autosomal Dominant
pathogenesis
Hepatic Overproduction of VLDL
Related to Insulin Resistance
Lab Findings
Increased VLDL
Increased Triglycerides (> 1000 mg/dL)
Symptoms/Findings
Acute Pancreatitis
Eruptive Xanthomas
Increased Risk for Coronary Artery Disease (CAD)
Increased Risk of Peripheral Vascular Disease
3 mins
Hyperchylomicronemia (Type I Familial Dyslipidemia)
INHERITANCE
Autosomal Recessive
PATHOGENESIS
Lipoprotein Lipase Deficiency (LPL)
Altered Apolipoprotein C-II (Apo C-II)
Lab Findings
Increased Chylomicrons
Increased Cholesterol
Increased Triglycerides
Symptoms/Findings
Pancreatitis
Hepatosplenomegaly
No Increased Risk for Atherosclerosis
Eruptive/Pruritic Xanthomas
Milky White Appearance of Blood When Drawn
3 mins
Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)
INHERITANCE
Autosomal Dominant
PATHOGENESIS
Defective or Absent LDL Receptors
Defective Apolipoprotein B-100 (ApoB-100)
Lab Findings
Increased LDL
Decreased HDL
Type IIb also has Increased VLDL
Symptoms/Findings
Accelerated Atherosclerosis
Achilles Tendon Xanthomas
Xanthelasma
Corneal Arcus
4 mins
Abetalipoproteinemia
Pathogenesis
Autosomal Recessive
Deficiency of Apolipoproteins B-48 and B-100
MTTP Gene Mutation
Clinical Features
Malabsorption
Steatorrhea
Failure to Thrive
Ataxia
Retinitis Pigmentosa
Spinocerebellar Degeneration
Diagnostic Workup
Lipid-Laden Enterocytes On Intestinal Biopsy
Acanthocytes
Decreased Plasma Choleserol and LDL Levels
Treatment
VItamin E (Alpha-Tocopherol)
3 mins
Retinitis Pigmentosa
Characteristics
Hereditary Retinal Degeneration
Clinical Features
Night Blindness
Contrast and Color Defects
Tunnel Vision
Associations
Abetalipoproteinemia
Kearns-Sayre Syndrome
Refsum Disease
Diagnosis
Bone Spicule-shaped Retinal Deposits
Considerations
Permanent Blindness
2 mins
Kearns-Sayre Syndrome
Characteristics
Mitochondrial Disease
Clinical Findings
Ophthalmoplegia
Retinitis Pigmentosa
Heart Block
42 secs
Xeroderma Pigmentosum
Pathophysiology
Defective Nucleotide Excision Repair
Pyrimidine Dimer Accumulation
Autosomal Recessive
Susceptible to UVA and UVB Rays
Presentation
Actinic Keratosis
Neurodegeneration
Photosensitivity
Corneal Ulcers
Hyperpigmented Lentigines
Considerations
Increased Risk of Skin Cancer
3 mins

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