Oculofacial Manifestations of Chromosomal Aberrations
Fig. 6.1 Normal Male Karyotype : 46, XY (courtesy of Genomic Pathology Program at Thomas Jefferson University Hospital) Fig. 6.2 FISH panel for chronic lymphocytic leukemia (CLL) : Results from…
Fig. 6.1 Normal Male Karyotype : 46, XY (courtesy of Genomic Pathology Program at Thomas Jefferson University Hospital) Fig. 6.2 FISH panel for chronic lymphocytic leukemia (CLL) : Results from…
Gestational age (weeks) Central comeal thickness (μm) Horizonta corneal diameter (mm) 30–32 Mean 691 8.0 SD 87 0.2 34–35 Mean 648* 8.5* SD 72 0.3 37–38 Mean 605* 8.9* SD…
Fig. 12.1 Purulent conjunctivitis due to gonorrhea infection Diagnosis For ocular disease, culture from conjunctival exudates is the gold standard for diagnosis of gonoccal infections. Colonies grow within 24–48 h of…
Fig. 11.1 Angioid streaks. Note the “star like” hypopigmented areas surrounding the optic nerve, courtesy of Edward Chaum, M.D. Ph.D. The pathogenesis of angioid streaks is poorly understood, especially in…
Fig. 21.1 Adams-Oliver syndrome . Terminal transverse limb defect in AOS: The toes are reduced to stubs (Photo courtesy Dr. P. Vijayalakshmi, Aravind Eye Care System, Madurai) Neurological Manifestations Neurological…
Fig. 5.1 CT of brain. Note subdural hemorrhage extending into the interhemispheric fissure Although not obligatory, neck injury , including injury to the soft tissues as well as the cervical…
Malformation/hypoplasia Renal-coloboma syndrome Wilms tumor-aniridia (WAGR contiguous deletion syndrome) CHARGE syndrome Alagille syndrome Branchio-oto-renal syndrome (BOR) Fraser syndrome Ciliopathies Nephronophthisis (NPHP) syndromes (see Table 18.3) including: Senior-Løken syndrome Bardet-Biedl syndrome…
Fig. 9.1 Prolactinoma with invasion of sphenoid sinus (small white arrow) and midline shift (large white arrow) Definition Pituitary Adenoma Pituitary tumors are defined by size and whether they secrete…
Vitamin Ocular manifestations Systemic manifestations A Night blindness, xerosis, keratomalacia Keratinization of mucous membranes and skin, growth retardation, anemia B1 (thiamine) Nystagmus, diplopia, ophthalmoplegia, angular blepharoconjunctivitis; blepharoptosis in infantile beriberi;…
Medication Ophthalmic side effects Management Phenytoin Oculomotor dysfunction (nystagmus, opsoclonus, gaze palsy) Reduce dose Carbamazepine Oculomotor dysfunction Reduce dose Steroids: Adrenocorticotropic hormone (ACTH) and decadron A. Cataracts A. May require…