Ординатура / Офтальмология / Английские материалы / Oxford American Handbook of Ophthalmology_Tsai, Denniston, Murray_2011
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716 CHAPTER 23 Miscellaneous
Rubinstein–Taybi syndrome (otopalatodigital syndrome) Developmental abnormality; hypertelorism, colobomas; broad thumbs/big toes, maxillary/ mandibular hypoplasia, hypertrichosis, dIQ.
Sandhoff’s disease Autosomal recessive (Ch 5q, HEXB); GM2 gangliosidosis with deficiency of hexosominadase A and B; cherry-red spot, optic atrophy; splenomegaly, neurodegeneration.
Stargardt’s disease (and fundus flavimaculatus) Autosomal recessive (usually Ch1p, ABCA4); most common of the macular dystrophies, with two clinical presentations: Stargardt’s (“beaten-bronze” atrophy, yellowish flecks of the posterior pole, significant dVA) and fundus flavimaculatus (widespread pisciform flecks with relative preservation of vision), p. 459.
Steele–Richardson–Olszewski (progressive supranuclear palsy) Neurodegenerative disease of the elderly; supranuclear vertical gaze; postural instability, Parkinsonism, pseudobulbar palsy, and dementia.
Stickler’s syndrome (hereditary arthro-ophthalmopathy) Autosomal dominant (Ch12q, COL2A1); abnormality of type II collagen; high myopia, optically empty vitreous, retinal detachments, cataract, ectopia lentis, glaucoma; arthropathy, Pierre Robin sequence (micrognathia, high arched/cleft palate), sensorineural deafness, mitral valve prolapse, p. 389.
Sturge–Weber syndrome Phakomatosis with port-wine stain of the face with ocular and CNS hemangiomas, p. 645.
Tay–Sachs disease Autosomal recessive (Ch15q, HEXA); GM2 gangliosidosis with deficiency of hexosominadase A; cherry-red spot, optic atrophy; neurodegeneration.
Treacher–Collins syndrome (mandibulofacial dysostosis) Autosomal dominant (Ch5q); clefting syndrome; antimongoloid palpebral fissures, lower lid colobomas, dermoids; mandibular hypoplasia, zygoma hypoplasia, choanal atresia.
Turcot syndrome Variant of familial adenomatous polyposis (autosomal dominant) with CNS neuroepithelial tumors, especially medulloblastoma and glioma; atypical CHRPE, p. 510.
Turner syndrome XO; 1 in 2000 live female births; antimongoloid palpebral fissures, cataracts, convergence insufficiency; short stature, wide carrying angle, low hair line, webbed neck, primary gonadal failure, congenital heart defects, p. 638.
Vogt-Koyanagi–Harada syndrome Multisystem inflammatory disease; bilateral granulomatous panuveitis; vitiligo, alopecia, deafness, tinnitus, sterile meningoencephalitis and cranial neuropathies, p. 342.
Von-Hippel Lindau Autosomal dominant (Ch3p, VHL gene); phakomatosis with retinal capillary hemangiomas, CNS hemangioblastomas, renal cell carcinomas, and other tumors, p. 645.
Waardenburg syndrome Autosomal dominant (PAX3); heterochromia, hypertelorism; white forelock, deafness.
EPONYMOUS SYNDROMES 717
Walker–Warburg syndromeAutosomal recessive; retinal dysplasia; muscular dystrophy, Dandy–Walker malformation.
Wallenberg syndrome (lateral medullary syndrome) Lesion of the lateral medulla (typically posterior inferior cerebellar artery occlusion) resulting in ipsilateral Horner’s syndrome, ipsilateral cerebellar signs, ipsilateral palatal paralysis, ipsilateral decreased facial sensation (pain and temperature), contralateral decreased somatic sensation (pain and temperature).
Weill–Marchesani syndrome Autosomal recessive; ectopia lentis, microspherophakia, retinal detachment, anomalous angles; short stature, brachydactyly, dIQ, p. 258.
Wildervanck syndrome Klippel–Feil malformation (short neck due to cervical vertebrae anomalies) with deafness and Duane’s syndrome.
Wyburn–Mason syndrome Phakomatosis with arteriovenous malformations of retina, orbit, and CNS, p. 645.
Zellweger syndrome (cerebrohepatorenal syndrome) Autosomal recessive; severe end of a spectrum of peroxisomal disorders that includes neonatal adrenoleukodystrophy and infantile Refsum’s disease; cataract, optic nerve hypoplasia, pigmentary retinopathy, corneal clouding; high forehead, flat brows; life expectancy <1 year.
718 CHAPTER 23 Miscellaneous
Web resources for ophthalmologists (1)
Box 23.1 Ophthalmic and related associations
American Academy of Ophthalmology www.aao.org
Association for Research in Vision and Ophthalmology www.arvo.org American Society of Cataract and Refractive Surgery www.ascrs.org American Society of Retina Specialists www.asrs.org
International Council of Ophthalmology (ICO) www.icoph.org International Society for Clinical Electrophysiology of Vision www.iscev.org
International Society for Refractive Surgery www.isrs.org
Box 23.2 American Medical Colleges (US)
American Society of Anesthesiologists www.asahq.org American Academy of Family Physicians www.aafp.org
American College of Obstetricians and Gynecologists www.acog.org American Academy of Ophthalmology www.aao.org
American College of Pediatricians www.acpeds.org College of American Pathologists www.cap.org American College of Physicians www.acponline.org American College of Surgeons www.facs.org American College of Radiology www.acr.org American College of Psychiatrists www.acpsych.org
Box 23.3 Other professional bodies
American Medical Association www.ama-assn.org
United States Department of Health and Human Services www.hhs.gov National Institute of Health www.nih.gov
WEB RESOURCES FOR OPHTHALMOLOGISTS (2) 719
Web resources for ophthalmologists (2)
Box 23.4 Ophthalmic and medical resources
PubMED and MEDLINE www.pubmed.com
Cochrane Eye and Vision Site www.cochraneeyes.org
Clinical Evidence www.clinicalevidence.com
Emedicine www.emedicine.com
Internet Ophthalmology www.ophthal.org
Centers for Disease Control and Prevention www.cdc.gov
World Health Organization www.who.int
Box 23.5 Journals
Ophthalmic
American Journal of Ophthalmology www.ajo.com
Archives of Ophthalmology www.archopht.ama-assn.org
British Journal of Ophthalmology www.bjo.bmjjournals.com
Cornea www.cornealjrnl.com
Current Opinion in Ophthalmology www.co-ophthalmology.com Digital Journal of Ophthalmology www.djo.harvard.edu
Eye www.nature.com/eye
International Ophthalmology Clinics www.internat-ophthalmology.com Investigative Ophthalmology & Visual Science www.iovs.org
Journal of Cataract and Refractive Surgery www.ascrs.org/publicats/jcrs
Journal of Glaucoma www.glaucomajournal.com Ophthalmology www.ophsource.org/periodicals/ophtha
General
British Medical Journal www.bmj.bmjournals.com
New England Journal of Medicine www.nejm.org
The Lancet www.thelancet.com
720 CHAPTER 23 Miscellaneous
Reference intervals
Hematology
CBC
Hb |
13.0–18.0 g/dL |
|
11.5–16.5 g/dL |
Hct |
0.40–0.52 |
|
0.36–0.47 |
RCC |
4.5–6.5 x 1012/L |
|
3.8–5.8 x 1012/L |
MCV |
77–95 fL |
MCH |
27.0–32.0 pg |
Reticulocytes |
50–100 x 109/L (0.5–2.5%) |
WCC |
4.0–11.0 x 109/L |
Neutrophils |
2.0–7.5 x 109/L |
Lymphocytes |
1.5–4.5 x 109/L |
Eosinophils |
0.04–0.4 x 109/L |
Basophils |
0.0–0.2 x 109/L |
Monocytes |
0.2–0.8 x 109/L |
Platelets |
150–400 x 109/L |
ESR |
age/2 (Male) |
Hematinics |
(age +10)/2 (Female) |
|
|
Serum B12 |
150–700 ng/L |
Serum folate |
2.0–11.0 μg/L |
Red cell folate |
160–640 μg/L |
Serum ferritin |
15–300 μg/L |
Clotting |
|
INR |
0.8–1.2 |
PT |
12–14 s |
APTT ratio |
0.8–1.2 |
APTT |
26.0–33.5 s |
Protein C |
80–135 u/dL |
Protein S |
80–135 u/dL |
Antithrombin III |
80–120 u/dL |
APCR |
2.12–4.0 |
REFERENCE INTERVALS 721
Biochemistry
Urinalysis and glucose
Sodium (Na) |
135–145 mmol/L |
|
|
||
Potassium (K) |
3.5–5.0 mmol/L |
|
Urea |
3.0–6.5 mmol/L |
|
Creatinine |
60–125 μmol/L |
|
Glucose (fasting) |
3.5–5.5 mmol/L |
|
Glucose (random) |
3.5–11.0 mmol/L (normal/IGT) |
|
LFTs and protein
Total protein |
63–80 g/L |
Albumin |
32–50 g/L |
Bilirubin |
<17 μmol/L |
Alkaline phosphatase |
100–300 iu/L |
ALT |
5–60 iu/L |
AST |
5–42 iu/L |
γGT |
10–46 iu/L |
Bone
Calcium (total) |
2.15–2.55 mmol/L |
Phosphate |
0.7–1.5 mmol/L |
Lipids |
|
Cholesterol |
3.9–6.0 mmol/L |
Triglycerides |
0.55–1.90 mmol/L |
ACE |
12–71 (age 20); 5–87 (age <20) |
Iron studies
Iron |
14–33 μmol/L |
|
11–28 μmol/L |
TIBC |
45–75 μmol/L |
Hormones
TSH |
0.35–5.5 mU/L |
Free T4 |
9–24 pmol/L |
Cortisol (morning) |
450–700 nmol/L |
FSH |
2–8 u/L (luteal); >25 u/L (menopausal) |
LH |
3–16 u/L (luteal) |
Prolactin |
<450 u/L |
|
<650 u/L |
722 CHAPTER 23 Miscellaneous
Arterial blood gases
|
PH |
7.35–7.45 |
|
PaO2 |
>10.6 kPa |
|
||
|
PaCO2 |
4.7–6.0 kPa |
|
||
|
BE |
± 2.0 mmol/L |
Immunology
IgG |
5.3–16.5 g/L |
IgA |
0.8–4.0 g/L |
IgM |
0.5–2.0 g/L |
C3 |
0.9–2.1 g/L |
C4 |
0.12–0.53 g/L |
C1 esterase |
0.11–0.36 g/L |
CH50 |
80–120% |
CSF analysis
Lymphocytes |
<4/mL |
Neutrophils |
0/mL |
Glucose |
2/3 plasma level |
Protein |
<0.4 g/L |
Opening pressure |
<20 cmH2O, or <25 cmH2O in the obese |
