3 - Genes, Blood, Lymph Flashcards
Down’s syndrome
- genetics
- characteristics
Trisomy 21
Most common xsomal disorder
Epicanthal folds Congenital cataracts Glaucoma Strabismus Keratoconus
Klinefelter’s syndrome
- genetics
- characteristics
Male with XXY (Calvin Kline = man)
-male primary hypogonadism
Testicular atrophy, long extremities, gynecomastia, female hair distributino, hypogonadism
Turner’s syndrome
- genetics
- characteristics
Female with X0 (Tina Turner = female)
-absent X
Ocular: problems TURNing eyes = BV issues
-strabismus, amblyopia, decr accommodation, convergence insufficiency
Systemic: short stature, dysgenesis, webbing of neck, coarctation (narrowing) of aorta
Von Hippel Lindau dz
- genetics
- characteristics
AD
Host of benign and malignant tumors
Retinal angiomas
Neurofibromatosis 1 (Von Recklinghausen’s)
- genetics
- characteristics
AD
Tumor-forming nerve cells
Triad: cafe au laits, neurofibromas, Lisch nodules (melanocytes)
Optic nerve gliomas can squeeze nerve
Assoc with congenital glaucoma
Marfan’s syndrome
- genetics
- characteristics
AD
CT disorder
Dissecting aortic aneurysm
Ocular: lens subluxation up and out RDs
Huntington’s chorea
- genetics
- characteristics
AD
Xsome 4
Problems with pursuits and saccades
Familial adenomatous polyposis (FAP)
- genetics
- characteristics
AD
Gardners = 4+ CHRPEs
Uni or bilateral
When signs/symp appear
- auto dominant
- auto recessive
Puberty
Earlier/childhood
Sickle cell anemia
- genetics
- characteristics
- testing
AR
Valine substituted for glucamic acid (DNA issue)
Painful crises due to ischemia
Proliferative retinopathy (“sea fan”, DRVOS)
CBC: decr hemoglobin, incr reticulocytes (baby RBCs)
Broken down in liver = incr bilirubin
Tay-Sach’s dz
- genetics
- characteristics
AR Eastern European (Ashkenazi) Jews
Build-up of gangliosides in RGCs = white retina
Cherry red spot
ON atrophy
Fabry’s dz
- genetics
- characteristics
XLR
15yo M
Lipid disorder -> clots, ichemia, pain
Telangiectasia
Whorl K
Duchenne muscular dystrophy
- genetics
- characteristics
XLR
Deletion w/in gene encoding dystrophin
Weakness - tired when walking
Moves up to lungs/progresses superiorly
Osteogenesis imperfecta/Brittle bone dz
- genetics
- characteristics
Multifactorial disorder
Abnormal collagen synthesis
Ocular: blue sclera, keratoconus, megalocornea
Leber’s hereditary optic neuropathy
- genetics
- characteristics
Mitochondrial
25yo M
Bilateral asymmetric primary optic atrophy
Early: disc hyperemia, telangiectatic vessels
Late: progressive disc pallor, loss of central vision (BCVA 20/200 - CF)
-“my mother lever lost my eyes”
TDOME vowels
T1 collagen issues = blue sclera
Iron-deficiency anemia
-characteristics
Most common (50%)
Impaired cellular function -> brittle hair, nail spooning, pica
Aplastic anemia
- characteristics
- causes
Pancytopenia
Infectious agents
Radiation
Drugs: chloramphenicol, acetazolamide, methazolamide, TMP, methotrexate, pyrimethamine
(Dinosaur, 2 oral CAIs, 3 DHF reductase inhibitors)
MCV
- meaning
- condns with low (2), normal (3), high (2)
Size of RBC
Low HgB +
Low MCV = iron-deficiency, thalassemias
Normal MCV = aplastic anemia, sickle cell, chronic kidney dz
High MCV = vit B12 deficiency, folic acid deficiency
Vitamin B12 deficiency
-characteristics
Parietal cell problem (release intrinsic factor, stim HCl prod)
-e.g. pernicous anemia
Multiple myeloma
-characteristics
Neoplastic disorder (cancer)
Results in bone destruction leading to aplastic anemia
Hodgkin’s lymphoma
-characteristics
40% lymphomas
REED-STERNBERG CELLS (“owl eye” nucleus)
50% assoc with Epstein-Barr virus
Good prognosis if caught early
Non-Hodgkin’s lymphoma
-characteristics
60% of lymphomas
Bone marrow biopsy to determine T-cell or B-cell type
Variable prognoses
Leukemias
- acute vs chronic
- ocular finding
- types with named cells and worse prognosis
Acute = immature/blast cells Chronic = mature cells
ROTH SPOTS
- found in leukemia and endocarditis
- retinal hemorrhage with a CWS inside
M’s = AML, CML
Acute myeloblastic leukemia (AML)
- who
- blood work
Infants, mid-age
Normal WBC, excessive myeloblasts
AUER RODS
Acute lymphoblastic leukemia (ALL)
- who
- blood work
- prognosis
2-10yo
Normal WBC, excessive lymphoblasts
With tx: good prognosis
Chronic myelocytic leukemia (CML)
- who
- blood work
- prognosis
Older (60yo)
Extremely high WBC (50k-300k)
90% have PHILADELPHIA CHROMOSOME (“C Me Later in Philly”)
Poor prognosis - 3yr survival
Chronic lymphocytic leukemia (CLL)
- who
- blood work
- prognosis
Younger than CML, >50yo
High WBC (20k-200k)
Decent prognosis - survival 5-10 yr
Terminology
- penia
- philia
- cytosis
Penia = low
Philia+ Cytosis = high
