Ebook Color atlas & synopsis of clinical ophthalmology pediatric ophthalmology (2/E): Part 2

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(BQ) Part 2 book “Color atlas & synopsis of clinical ophthalmology pediatric ophthalmology” has contents: Congenital abnormalities of the optic nerve, retinal anomalies, eyelid anomalies, lacrimal anomalies, strabismus disorders. CHAPTER Congenital Abnormalities of the Optic Nerve Aldo Vagge and Leonard B Nelson ■ OPTIC NERVE HYPOPLASIA Optic nerve hypoplasia (ONH) is a congenital, nonprogressive developmental abnormality in which the optic nerve is smaller than usual because of reduced numbers of retinal ganglion cells It is frequently associated with other central nervous system (CNS) abnormalities ONH may be unilateral or bilateral (80%) and may be asymmetric Most common congenital optic disc anomaly Optic nerve aplasia is rare No pupillary light reflex and absence of the optic disc, nerve fiber layer, and retinal blood vessels on examination Etiology Not completely understood Parental drug and alcohol abuse contributes to an increasing prevalence of ONH Drug associations include exposure to carbemazepine, isotretinoin, phenytoin, quinine, and valproic acid Young maternal age and maternal insulin-dependent diabetes have also been implicated in some cases (associated with subtype—superior segmental optic hypoplasia) Genetics Most cases are sporadic Bilateral ONH is inherited in an autosomal-dominant pattern based on the few families reported Mutation in the PAX6 (11q13) gene is responsible Mutation in the HESX1 gene has been identified in sporadic septo-opto dysplasia and pituitary disease Mutation in the TUBA8 gene is associated with polymicrogyria and ONH Symptoms Decreased vision in one or both eyes Strabismus may be associated with unilateral ONH Signs Range of visual acuity is 20/20 to no light perception since vision is determined primarily by the integrity of the papillomacular nerve fibers more than the overall size of the disc Amblyopia as a result of accompanying strabismus and anisometropia Nystagmus: often develops at to months of age in bilateral cases Strabismus may be associated with unilateral ONH Afferent pupil defect in asymmetric or unilateral cases Visual fields (VFs) often have localized defects as well as general constriction Abnormally small optic nerve head, often gray or pale in color with “double-ring sign” (scleral canal surrounds a small optic nerve) (Fig 7-1) Superior segmental hypoplasia of the optic nerve is a segmental form of ONH occurring in some children of insulin-dependent diabetic mother Retinal vascular tortuosity is common Associated Conditions Septa-optic dysplasia: combination of small anterior visual pathways, absence of the septum pellucid, and thinning or agenesis of the corpus callosum Endocrine dysfunction: pituitary gland abnormalities in approximately 15% of patients with ONH Patients are at risk for hypothalamic and pituitary dysfunction such as growth hormone deficiency (most common), hypothyroidism, hyperprolactinemia, panhypopituitarism, and diabetes insipidus Cerebral anomalies such as error in hemispheric migration (schizencephaly, cortical heterotopias) or hemispheric injury (periventricular leukomalacia [PVL], encephalomalacia) PVL can be associated with another form of ONH characterized by large optic cups and a thin neuroretinal rim contained within normal-sized optic discs This occurs secondary to trans-synaptic degeneration of optic axons caused by bilateral lesions in the optic radiations Developmental delay more common in patients with bilateral ONH, highly correlated with corpus callosum hypoplasia and hypothyroidism Diagnostic Evaluation Magnetic resonance imaging (MRI) to rule out CNS malformations Refer to a pediatric endocrinologist if patients show clinical signs of endocrine dysfunction or pituitary abnormalities on MRI Pediatrician should follow growth chart for endocrine changes Undiagnosed endocrine deficiencies are at risk for impaired growth, hypoglycemia, seizures, and death Automated VF testing may be useful but children are often too young to cooperate Differential Diagnosis Optic atrophy Optic nerve coloboma Ocular albinism Treatment No treatment available to improve the vision in ONH Correction of refractive errors Treatment for superimposed amblyopia Surgery for concurrent strabismus or nystagmus may be considered Consider polycarbonate eye glasses for protection of the better-seeing eye Prognosis Visual acuity is generally nonprogressive Complications are in general related to endocrinopathies and CNS malformations FIGURE 7-1 Optic nerve hypoplasia Note the double-ring sign MORNING GLORY DISC ANOMALY Morning glory disc anomaly (MGDA) is a rare, congenital, usually unilateral funnellike excavation of the posterior fundus that incorporates the optic disc The name derives from the similarity to the morning glory flower More common in female and rare in African Americans Etiology The embryologic basic of MGDA is unclear A defect in fetal fissure closure or a primary mesenchymal abnormality has been hypothesized as embryonic origins of morning glory anomaly Symptoms Decreased vision most common in the involved eye Color vision defect Signs Visual acuity can range from normal vision to no light perception but in general is approximately 20/100 to 20/200 Strabismus Leucokoria Amblyopia Myopia Afferent pupil defect VF defects, commonly enlarged blind spots The optic disc is markedly enlarged, orange or pink in color, with a surrounding annular ring of pigmented uveal tissues Retinal vessels increased in number emanate radially from the disc, a central white tuft of glial tissue Macula may be incorporated into the excavation (macular capture) (Fig 7-2) Serous retinal detachment (RD) in one-third of patients Associated Conditions Trans-sphenoidal basal encephalocele associated with midfacial anomalies (hypertelorism, flat nasal bridge, midline notch in the upper lip, and sometimes a midline cleft in the soft palate) Midline or other brain abnormalities (e.g., agenesis of the corpus callosum, pituitary abnormalities) Ipsilateral abnormalities of the carotid circulation such as stenosis or aplasia of the carotid arteries with or without Moyamoya syndrome (progressive stenosis of the terminal portion of the internal carotid artery and its main branches) Associated with ipsilateral orofacial hemangioma—this association may fall within the spectrum of the PHACE syndrome (posterior fossa malformation, large facial hemangioma, arterial anomalies, cardiac anomalies and aortic coarctation, and eye anomalies) Associated with neurofibromatosis type MGDA has been described as part of the spectrum of renal coloboma syndrome Diagnostic Evaluation MRI and magnetic resonance angiography should be obtained to rule out brain and vascular abnormalities Rule out endocrine dysfunction (thyroid-stimulating hormone and growth hormone levels) and kidney involvement (basic metabolic panel and urinalysis) Differential Diagnosis Optic nerve coloboma Peripapillary staphyloma Treatment No treatment available to improve the vision in MGDA Correction of refractive errors Treatment for amblyopia if associated RD is usually addressed with pars plana vitrectomy and long-standing gas tamponade Prognosis Vision is usually stable unless RD occurs Optic neuritis and progressive optic atrophy have been documented FIGURE 7-2 Morning glory disc Morning glory disc anomaly showing an enlarged excavation, abnormal retinal vascular pattern, annular pigmentation surrounding the nerve head, and central glial tuft and peripapillary changes (Courtesy of Alex Levin, MD.) OPTIC DISC COLOBOMA Clearly demarcated bowl-shaped excavation of the optic disc, which is typically decentered and deeper inferiorly Unilateral and bilateral optic disc coloboma occur with similar frequencies Occasionally involvement of the entire disc occurs Other types of uveal coloboma can coexist They may be isolated or part of a systemic syndrome Etiology Thought to result from incomplete or abnormal fusion of the two sides of the proximal end of the embryonic fissure Most cases are sporadic but may be autosomal dominant, autosomal recessive, or Xlinked recessive A wide variety of mutations have been documented in patients with coloboma —CHD7 mutation is associated with 60% of cases of CHARGE syndrome Symptoms Visual acuity may be mildly or severely decreased in one or both eyes—the degree of foveal involvement by the coloboma is the only feature that relates to visual outcome Signs White, bowl-shaped excavation that occurs in an enlarged optic disc The excavation is decentered inferiorly and the superior neuroretinal rim is relatively spared In case of complete excavation of the entire disc, the excavation is deeper inferiorly Chorioretinal coloboma can be associated—if so, microphthalmia is frequently present Iris and ciliary body colobomas often coexist Rhegmatogenous or serous RD may develop in some patients—rhegmatogenous are often associated when chorioretinal coloboma, whereas serous detachment is more common in case of isolated optic nerve coloboma Associated Conditions CHARGE association: coloboma, choanal atresia, congenital heart disease, and multiple other abnormalities Walker-Warburg syndrome Goltz focal dermal hypoplasia Aicardi syndrome Goldenhar sequence Linear sebaceous nevus syndrome Dandy-Walker malformation Renal coloboma syndrome—with a mutation of PAX2 transcription Microphthalmia—in case of chorioretinal involvement Diagnostic Evaluation Optical coherence tomography (OCT) has been useful in observing the intercalary membrane that covers the chorioretinal defect and is continuous with the neural retina A complete systemic evaluation is important to rule out other associated anomalies Differential Diagnosis MGDA Peripapillary staphyloma Treatment No specific treatment is available for optic disc coloboma Treatment for amblyopia, if associated Optimal refractive correction may be indicated RD surgery as indicated Prognosis Vision is usually stable unless RD occurs OPTIC DISC PITS Optic disc pit (ODP) is an oval or round excavation of variable color, depth, and location in the optic disc The temporal optic disc side is the most commonly involved Often unilateral, although bilateral cases have been reported in 15% of the cases They are rare, with an estimated incidence of in 11,000 people Etiology It is not entirely clear—they are thought to result from an imperfect closure of the superior edge of the embryonic fissure Histologically, an ODP is a herniation of dysplastic retina into a collagen-rich excavation that extends into the subarachnoid space through a defect in the lamina cribrosa The pathogenesis of the macular changes is still controversial—the fluid may be vitreous fluid, cerebrospinal fluid, leakage from blood vessels at the base of the pit, or leakage from the choroid Also, serous macular detachment is caused by direct communication between the optic pit and the subretinal space or from the optic pit and retina In the latter case, fluid may move into the retina, causing a schisis-like separation of the inner and outer layers, with the neurosensory serous RD occurring secondary to this schisis In addition, vitreous traction appears to be an important factor in the pathogenesis of optic pit–related macular detachment ODPs are generally sporadic, although familial occurrence has been reported as a dominant trait Symptoms Optic pits are asymptomatic unless there is subretinal fluid—approximately 45% of the eyes develop serous macular detachment usually in the second or third decades of life When subretinal fluid is present, visual acuity decreases to 20/40–20/60 Signs ODPs are usually seen as single, oval-shaped depressions at the optic disc They are most commonly found at the inferotemporal aspect of the optic disc, but may also be found elsewhere, including centrally Usually they are gray, white, or yellowish in color (Fig 7-3) The signs associated with ODP maculopathy include intraretinal and subretinal fluid accumulation, and retinal pigment changes Amblyopia in children especially in eye with serous macular detachment Associated Conditions Rarely associated with basal encephalocele Diagnostic Evaluation OCT to evaluate the subretinal fluid—typically OCT may show a schisis-like separation between the inner and outer retina VF—arcuate scotoma is most common Intravenous fluorescein angiography (IVFA) is helpful in the differential diagnosis of serous detachment Amsler grid can be used to monitor the macular involvement Differential Diagnosis Extraretinal fibrovascular proliferation (ERFP), 188 Eyelid anomalies ankyloblepharon filiforme adnatum, 200–201, 201f blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), 202–203, 203f capillary hemangiomas, 216, 217f childhood ectropion, 204, 205f colobomas, 210, 211f congenital entropion, 206, 207f congenital ptosis, 208, 209f epiblepharon, 212, 213f epicanthus, 214, 215f F Fabry disease, 100 Facial hemihypertrophy, 66 Faciao-auricular vertebral syndrome, 30 Familial adenomatous polyposis (FAP), 180 Familial exudative vitreoretinopathy (FEVR), 164, 182–183, 183f Fanconi syndrome, 192 FAP See Familial adenomatous polyposis (FAP) FEVR See Familial exudative vitreoretinopathy (FEVR) Fibrinous anterior uveitis, 92 Flocculi, iris, 98, 99f Fourth nerve palsy, 250–251, 251f Foveal hypoplasia, 68 Frizzled gene (FZD4), 168 Fundus albipunctata, 196 Fundus flavimaculata, 196–197, 198–199f G Galactosemia, 100 Ganciclovir ophthalmic gel, 38 Genetic counseling, 193, 197 Ghost cell glaucoma, 59 Gillespie syndrome, 68 Glaucoma, 18, 20, 74 aniridia, 68–69, 69f aphakic glaucoma, 56, 57f following cataract surgery, 56–57, 57f congenital ectropion uveae, 66, 67f drainage devices, 60 juvenile open-angle, 52–53, 54f posterior embryotoxon, 70–71, 71f primary congenital, 48–50, 50–51f Sturge-Weber syndrome, 62–63, 64–65f traumatic, 59 uveitic, 58–60 glaucoma, 61f Glaucomatous optic neuropathy, 145 Goldenhar sequence, 144 Goldenhar syndrome, 2, 8, 254 Goldman-Favre disease, 160, 186 Goltz, Goltz focal dermal hypoplasia, 144 Gyrate atrophy, 156, 158, 159f H Haab striae, 49, 51f Hallerman-Streiff syndrome, Hemangioma, 224 Hemispheric migration, 139 Hepatolenticular degeneration See Wilson disease Herpes simplex blepharitis, 37f Herpes simplex corneal dendrite, 39f Herpes simplex infection, 36, 37f Herpes simplex virus, 100 epithelial dendrite, 38, 39f Herpes zoster ophthalmicus, 36, 42, 43f Herpesviridae, 125, 126f HESX1 gene, 138 Heterochromia iridis, 14, 62, 80, 81f Homocystinuria, 104 Horner syndrome, 208 HSV corneal stromal disease, 40, 40–41f Hurler syndrome, 24, 25f Hydroxychloroquine toxicity, 196 Hyperlysinemia, 104 Hyperopia, 9, 12 Hyperpigmented irides, 80 Hypertropia, 236 Hypopigmented elevated spots, 77f Hypoplastic disc, 145 Hypotropia, 256 I Iatrogenic iris defect, 68 ICROP See International Classification of ROP (ICROP) Idiopathic intracranial hypertension, 152 Idiopathic uveitis, 136 Incontinentia pigmenti, 164–165, 165t, 166–167f, 182, 184, 189 Infantile glaucoma, child with, 50, 50f Infantile retinal nonattachment, 164 Inferior oblique muscle overaction (IOOA), 232 Inferior oblique overaction, 234, 235f Inferior oblique palsy, 256 Injectable calcium hydroxylapatite, Intermittent exotropia, 242, 243f Intermittent strabismus, 230 International Classification of ROP (ICROP), 188 Interstitial keratitis, 40, 41f, 125, 126f Intrahepatic cholestasis of childhood, 34 Intraocular pressure (IOP), 30 IOOA See Inferior oblique muscle overaction (IOOA) IOP See Intraocular pressure (IOP) Ipsilateral orofacial hemangioma, 142 Iridocorneal endothelial syndrome, 66 Iridodonesis, 104 Iris aniridia, 74, 75f Axenfeld-Rieger anomaly, 96, 97f brushfield spots, 76, 77f central pupillary cysts, 72, 73f coloboma, 15–16f, 68, 78, 82, 83f, 104 ectopia lentis et pupillae, 78, 79f flocculi, 98, 99f heterochromia iridis, 80, 81f juvenile xanthogranuloma, 86, 87f lisch nodules, 88, 89f mamillations, 76, 86, 88 melanoma, 72 melanosis oculi, 90, 91f nevi, 76, 88 persistent pupillary membrane, 92, 93f pigment epithelium, 67f posterior synechiae, 94, 95f stromal cysts, 72, 84, 85f traumatic injury, 82 Ischemic optic neuropathy, 152 J Jeune syndrome, 192 JIA See Juvenile idiopathic arthritis (JIA) JOAG See Juvenile open-angle glaucoma (JOAG) Juvenile idiopathic arthritis (JIA), 58, 61f, 100, 112–115, 116–117f Juvenile open-angle glaucoma (JOAG), 52–53, 54f Juvenile retinal dystrophy, 160 Juvenile retinoschisis, 186, 187f Juvenile X-linked retinoschisis, 187f Juvenile xanthogranuloma (JXG), 76, 86, 87f, 88, 137 JXG See Juvenile xanthogranuloma (JXG) K Kayser-Fleischer ring, 34, 35f Keratitis, 49 Keratoprecipitates, 40 Klippel-Feil syndrome, 254 Klippel-Trenaunay-Weber syndrome, 62 L Lacrimal anomalies congenital nasolacrimal duct obstruction, 218–219, 220–223f dacryocele, 224, 225–227f lacrimal fistula, 228, 229f Lacrimal fistula, 228, 229f Leber congenital amaurosis, 160, 161f Leber hereditary optic neuropathy, 152 Lens anomalies anterior lenticonus, 106, 107f congenital and developmental cataracts, 100–101, 102–103f ectopia lentis, 104–105, 105f posterior lenticonus, 108, 109f spherophakia, 110, 111f Lenticular myopia, 110 Leucokoria, 142 Leukemic infiltrates, 86 Leukocoria, 14, 175f, 194 from retinoblastoma, 173 Limbal vernal keratoconjunctivitis, 46, 47f Linear sebaceous nevus syndrome, 144 Lisch nodules, 86, 88, 89f Liver transplantation, 34 Lymphangioma, 216 M Malattia leventinese, 196 Malignancies, 100 Marcus-Gunn jaw wink, 208 Marfan syndrome, 104 Masquerades, 137 Mast cell stabilizers, 46 Meckel-Gruber syndrome, MED See Monocular elevation deficiency (MED) Megalocornea, 49 Melanosis oculi, 81f, 90, 91f See also Ocular melanocytosis Mesodermal dysgenesis, 70 See also Axenfeld-Rieger anomaly MGDA See Morning glory disc anomaly (MGDA) Microcornea, Microphthalmia, 8–9, 10–11f, 144 CHARGE, 8, 14 complex, with cyst, 11f pure, severe, single-gene disorders, unilateral, 10f Microphthalmos, Microspherophakia, 104, 111f Möbius syndrome, 231, 258, 259f Monocular elevation deficiency (MED), 256, 260, 261f Morning glory disc anomaly (MGDA), 142–143, 143f Morning glory syndrome, 14 MPS See Mucopolysaccharidosis (MPS) Mucopolysaccharidosis (MPS), 18, 20, 24, 25f, 49, 192 Multifocal best, 196 Myasthenia gravis, 208 Mydriatic drops, 59 Myelinated nerve fibers, 162, 194, 195f Myopia, 142 Myopic astigmatism, 148 Myotonic dystrophy, 100, 104 N Nanophthalmia, 12, 13f Nasal glioma, 224 Nasolacrimal duct obstruction (NLDO), 49 congenital, 218–219, 220–223f NDP See Norrie disease protein (NDP) gene Neuroblastoma, 80 Neurofibromatosis, 66 Neuronal ceroid lipofuscinosis, 192 Nicotinic acid maculopathy, 186 NLDO See Congenital nasolacrimal duct obstruction (NLDO) NLDO See Nasolacrimal duct obstruction (NLDO) Nonaccommodative or partially accommodative esotropia, 240–241 Nonrefractive accommodative esotropia, 240 Norrie disease, 8, 184, 186 Norrie disease protein (NDP) gene, 168 Nyctalopia, 158 Nystagmus, 74, 82, 101 O Ocular disorders, systemic and genetic basis of, 184t Ocular melanocytosis, 80 Ocular prosthesis, 3, Oculodermal melanocytosis, 80 ODP See Optic disc pits (ODP) Oligoarthritis, 112–113 ONH See Optic nerve hypoplasia (ONH) Optic disc coloboma, 144 Optic disc drusen, 151–152 Optic disc pits (ODP), 145–146, 147f Optic nerve coloboma, 143 granuloma, 162 hypoplasia, 14 nerve infiltrates, 152 pits, 14 tumors, 152 Optic nerve hypoplasia (ONH), 138–139, 140f Optic neuritis, 152 Oral antihistamines, 46 Oral antiviral prophylaxis, 36 Orbital conformers, Orbital dermoid, 216 Orbital floor fracture, 260 Orbito-cranial advancement surgery, Ornithine aminotransferase gene (10q26), 158 Ovarian dysfunction, 202 P Papilledema, 152 Pars planitis, 128, 129f, 130, 134 Pathologic myopia, 156 Pattern dystrophy, 154 PAX6 gene, 74 Pediatric uveitis Blau syndrome/early-onset sarcoidosis, 120, 122–123f herpesviridae, 125, 126f idiopathic, 136 juvenile idiopathic arthritis, 112–115, 116–117f masquerades, 137 pars planitis, 128, 129f post infectious autoimmune, 124 toxocariasis, 134, 135f toxoplasmosis, 130, 131–133f traumatic, 124–125 tuberculosis, 136 and tubulointerstitial nephritis, 118, 119f Peripapillary staphyloma, 143, 150 Peripheral anterior synechiae, 58, 70 Periventricular leukomalacia [PVL], 139 Persistent fetal vasculature (PFV), 168, 184–185, 185f Persistent hyperplastic primary vitreous (PHPV), 100 Persistent pupillary membrane, 92, 93f Peters anomaly, 18, 20, 26, 27f, 49, 70, 96 PFV See Persistent fetal vasculature (PFV) PHACE syndrome, 142, 150 Phakomatosis pigmentovascularis, 62 Phakomatous choristoma, 224 Pharmacologic mydriasis, 68 Phenothiazines, 192 Photophobia, 74, 101 PHPV See Persistent hyperplastic primary vitreous (PHPV) Physiologic cupping, 52, 54f Pigment epithelial detachment, 155 Pigmented cysts, 72, 73f Plasma ornithine levels, 158 Polyarticular rheumatoid factor, 113 Port wine mark, 63f Post infectious autoimmune uveitis, 124 Posterior embryotoxon, 70–71, 71f, 96 Posterior lenticonus, 108, 109f Posterior scleritis, 152 Posterior synechiae, 74, 94, 95f Prader-Willi syndrome, 66 Primary congenital glaucoma, 48–50, 50–51f Primary infantile glaucoma, 57 Pseudoesotropia, 230, 231, 233f Pseudopapilledema See Optic disc drusen Pseudoxanthoma elasticum, 151 Psoriatic arthritis, 113 Pupillary block glaucoma, 104, 110 Pupillary margin epithelial cysts See Central pupillary cysts R Rab escort protein (REP-1), 156 RD See Serous retinal detachment (RD) Reactive hyperplasia, 180 Recurrent horizontal strabismus, 232 Refractive accommodative esotropia, 238, 239f Refsum disease, 192 Refsum phytanic acid storage disease, 160 Renal coloboma syndrome, 144 Retinal anomalies astrocytic hamartoma, 162–163, 163f Best disease, 154–155, 155f choroideremia, 156, 157f CHRPE, 180–181, 181f Coats disease, 168–169, 170–171f detachment from retinoblastoma, 172–173 dysplasia, 184 familial exudative vitreoretinopathy, 182–183, 183f fundus flavimaculata, 196–197, 198–199f gyrate atrophy, 158, 159f incontinentia pigmenti, 164–165, 165t, 166–167f juvenile retinoschisis, 186, 187f leber congenital amaurosis, 160, 161f myelinated nerve fibers, 194, 195f persistent fetal vasculature, 184–185, 185f retinitis pigmentosa, 192–193, 193f retinoblastoma, 172–174, 175–179f retinopathy of prematurity, 188–190, 191f Retinal pigment epithelial (RPE), 154 transplant, 193 Retinal toxoplasmosis, 14 Retinal vascular occlusion, 192 Retinitis pigmentosa, 104, 151, 158, 192–193, 193f Retinitis punctata albescens, 196 Retinoblastoma, 134, 172–174, 175–179f, 189 enucleation, 173 intra-arterial chemotherapy, 173 intravenous chemoreduction, 173 Retinocytoma, 162 Retinopathy of prematurity (ROP), 188–190, 191f International Classification of, 189t Retinopathy, solar, 154 Rhabdomyosarcoma, 216 Rhegmatogenous retinal detachment, 186 ROP See Retinopathy of prematurity (ROP) RPE See Retinal pigment epithelial (RPE) Rubella, 100, 192 Rubeosis, 66 S Sarcoidosis, 134, 136, 152 Scheie syndrome, 24 Sclera, discoloration, 90 Sclerocornea, 18, 19f, 20 Senior Loken syndrome, 192 Sensory esotropia, 231–232, 233f Septa-optic dysplasia, 139 Serous retinal detachment (RD), 142 Severe hypoplasia of iris, 74, 75f Sickle cell retinopathy, 182 Simple ectopia lentis, 104 Sixth nerve palsy, 252, 253f Slit-lamp biomicroscopy, 68 Small-angle strabismus, 230 Snowbanks and snowballs, 129f Sorsby dystrophy, 196 Sorsby macular dystrophy, 154 Spherophakia, 104, 110, 111f Sporadic aniridia, 74 Staphyloma enucleation specimen of, 33f unilateral and bilateral anterior, 33f Stargardt disease, 154, 196–197, 198–199f Stellate congenital cataract, 103f Steroid-induced glaucoma, 59 Strabismus disorders, 74, 101, 142 A and V pattern, 244–245, 246–247f Brown syndrome, 256–257, 257f congenital esotropia, 231–232, 233f congenital exotropia, 241–242 congenital fibrosis of extraocular muscles, 262, 263f dissociated vertical deviation, 236, 237f Duane syndrome, 254–255, 255f fourth nerve palsy, 250–251, 251f inferior oblique overaction, 236, 237f intermittent exotropia, 242, 243f Möbius syndrome, 258, 259f monocular elevation deficiency, 260, 261f nonaccommodative or partially accommodative esotropia, 240–241 nonrefractive accommodative esotropia, 240 pseudoesotropia, 230, 233f refractive accommodative esotropia, 238, 239f sixth nerve palsy, 252, 253f third nerve palsy, 248–249, 249f Stromal cysts, 84, 85f Sturge-Weber syndrome, 62–63, 64–65f Sulfite oxidase deficiency, 104 Superior oblique overaction, 256 Syphilis, 100, 136 Systemic arthritis, 113 Systemic lupus erythematosus, 100 T TAAD See Thoracic aortic aneurysm and dissection (TAAD) Tarsal kink, 210 TDS See Tilted disc syndrome (TDS) “Teardrop” pupil, 14 Tears in Descemet membrane, 18 Third cranial nerve palsy, 241 Third nerve palsy, 208, 248–249, 249f Thoracic aortic aneurysm and dissection (TAAD), 98, 99f Tilted disc syndrome (TDS), 148, 149f TINU See Tubulointerstitial nephritis uveitis (TINU) Topical antiglaucoma medications, 63 Toxocara canis, 134 Toxocara cati, 134 Toxocariasis, 134, 135f, 184, 189 Toxoplasma gondii, 130 Toxoplasmosis, 100, 130, 131–133f, 134, 152, 160 retinal, 14 Trans-sphenoidal basal encephalocele, 142 Transient nevus flammeus of infancy, 62 Trauma, 66 to iris sphincter, 78 Traumatic uveitis, 124–125 Trichiasis, 206 Trifluridine drops, 36, 38 Trisomy 13, 100 Trisomy 18, 100 Trisomy 21, 100 TUBA8 gene, 138 Tuberculosis, 134, 136 Tuberous sclerosis, 162 Tubulointerstitial nephritis uveitis (TINU), 118, 119f U Ulcer, 18, 20, 22 corneal, 23f Ulceration, 38, 39f Undifferentiated arthritis, 113 Unilateral and bilateral iris coloboma, 83f Unilateral vesicular lesions, 42 Uveitic glaucoma, 58–60, 59, 61f Uveitis, 42, 66 V Valacyclovir, 38 Varicella, 100 Vesicular lesions on eyelid, 36 Vesicular rash, 42 Visual acuity, 142 Vitelliform macular dystrophy, 154 Vogt-Koyanagi-Harada disease, 136 W Waardenburg syndromes, Wagner vitreoretinal dystrophy, 186 WAGR complex, 74 Walker-Warburg syndrome, 8, 144 Weill-Marchesani syndrome, 104 Wilson disease, 34, 35f Wolfflin nodules, 76 Y YAG See Yttrium aluminum garnet (YAG) puncture Yttrium aluminum garnet (YAG) puncture, 72 Z Zellweger syndrome, 192 ... Ophthalmol 20 07 ;24 5(11):1 723 –1 725 Meunier I, Manes G, Bocquet B, et al Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2... interphotoreceptor matrix IMPG1 and IMPG2 genes Ophthalmology 20 14; 121 :24 06 24 14 Spaide RF, Noble K, Morgan A, et al Vitelliform macular dystrophy Ophthalmology 20 06;113:13 92 1400 FIGURE 8-1 Best disease A... is often maintained into adulthood but is ultimately lost REFERENCES Kamron KN, Islam F, Moore AT, et al Clinical and genetic features of choroideremia in childhood Ophthalmology 20 16; 123 (10) :21 58 21 65
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