What's new AAPOS 2008 - The Private Eye Clinic

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ocular findings include optic nerve head abnormalities (elevated discs), tortuous or abnormal branching of vessels, and retinal pigmentary changes (diffuse hypopigmentation of the fundus, peripapillary hypopigmentation or speckling of the RPE peripherally). Patients with Alagille syndrome generally retain good vision. ERGs reports have been variable, though the authors state that ERGs and perimetry should be considered given the presence of retinopathy. Genetics of hereditary vitreoretinal degenerations Pachydaki SI, Young LH. Semin Ophthalmol 2007 Oct-Dec; 22(4):219-227. This is a review article targeting specific diseases. Of note is the discussion of the 5q vitreoretinopathies: Wagner syndrome, Jansen syndrome and erosive vitreoretinopathy. None have associated systemic features. The incidence of tractional RD in Wagner’s is 25%, but age dependent: over 50% of patients>45 develop TRD and over 90% develop cataracts. Also on 5q14 is Erosive vitreoretinopathy characterized by presenile cataracts, vitreous veils with traction, no optically empty vitreous. In the chondrodysplasias associated with vitreoretinopathy there are vitreous and skeletal abnormalities associated with collagen abnormalities (COL II, IX, XI). Kniest Dysplasia has more severe systemic manifestations than those in Stickler syndrome: high myopia, optically empty vitreous, lattice degeneration and RD. Knobloch syndrome includes high myopia, RD, and midfacial hyploplasia, but also midline scalp defects and encephalocele. Goldman Favre degeneration and enhanced S-cone syndrome present with overlapping clinical findings and genetic studies that these two syndromes represent the same disease entity at a molecular level and have the same geneti c basis. Neurofibromatosis Type 1: Genetics and clinical manifestations. Neurofibromatosis type 1: genetics and clinical manifestations Savar A, Cestari DM. Semin Ophthalmol 2008; 23(1):45-51. This is a general review article of this autosomal dominant multisystem disorder. Clinical Manifestations by System: Diagnostic Findings in Italics Ophthalmic • Lisch nodules • Glaucoma • Ptosis • Retinal astrocytic hamartomas • Retinal capillary hemangiomas • Combined hamartomas of the retina and retinal pigment epithelium Nervous System • Optic Pathway Gliomas • Neurofibromas – plexiform, spinal • Malignant peripheral nerve sheath tumors • Cerebrovascular disease • Cognitive deficits • Epilepsy Dematologic 64
• Cafe-au-lait macules • Freckling • Dermal Neurofibromas Musculoskeletal • Skeletal dysplasia Cardiovascular • Hypertension • Renal artery stenosis • Congenital heart disease Endocrine • Pheocromocytoma • Gastrointestinal endocrine tumors • Precocious puberty Beauchamp reported the prevalence of each of the findings in children: café-au-lait spots (98%), intertriginous freckling (81%), neurofibromas (15%), osseous lesions (>60%), Lisch nodules (50-90%) and optic gliomas (15%). These authors state the OPGs occur in 15% of patients with NF1. Most of the tumors are present by age6 years, though some report 36% were >6years old. Location of the tumor might be expected to affect prognosis, no statistically significant relationship has been demonstrated. The presence of symptoms at time of diagnosis has been shown to be the best predictor for need for treatment, with asymptomatic children unlikely to require treatment. They recommend a comprehensive annual eye exam, including visual field and color testing. Prompt neuro-imaging should be performed if concerning signs or symptoms develop. Children with NF1 have higher rates of cognitive deficits. Patients with NF1 are predisposed to malignancies: melanoma, leukemia, rhabdomyosarcoma, pheochromocytoma, duodenal somatostatinomas, and pancreatic endrocrine tumors. TheNF1 product is the cyotplasmic protein neurofibromin. InNF1 there is loss of normal neurofibromin function, allowing Ras signaling to proceed unchecked, leading to abnormal cellular proliferation. The prevalence of attention-deficit/hyperactivity disorder among persons with albinism Kutzbach B, Summers CG, Holleschau AM, King RA, Macdonald JT. J Child Neurol 2007 Dec; 22(12):1342-1347. Seventy-eight children (range4-18 years) and 44 adults (19-79 years) with ocular or oculo-cutaneous albinism were evaluated for ADHD. The estimated prevalence of ADHD among the general population is 4-12% among children and 4.4% among adults. There is a peak of diagnosis at age 10 years and is notably higher among boys than girls. In this cohort of the 78 children, 31.0% of boys and 11.1% of girls were diagnosed with ADHD, with prevalence for the group of 22.7%. In the adults with albinism, there was a prevalence of 6.8%, again higher than the general population. The authors note some limitations of their study: small sample size and selection bias. They believe additional studies should be undertaken. Oculocutaneous albinism Gronskov K, Ek J, Brondum-Nielsen K. 65
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What’s New and Important in Pedia
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ROP Retinopathy of Prematurity: the
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same diagnosis in 4 of 34 images (1
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PREMATURITY Perinatal care in the t
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STRABISMUS Causes and outcomes for
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METHODS: The medical records of all
Page 13 and 14: initial positive response to medica
Page 15 and 16: deviation as an intermittent exodev
Page 17 and 18: STRABISMUS SURGERY Unilateral reces
Page 19 and 20: The effect of topical tetracaine ey
Page 21 and 22: +/-0.08 and 0.34 +/-0.07 mm, for th
Page 23 and 24: THYROID Cigarette smoking and thyro
Page 25 and 26: excluding from the cataract group t
Page 27 and 28: Long-Term Results of Lensectomy in
Page 29 and 30: CATARACT SURGERY Pediatric anterior
Page 31 and 32: Suture-related complications after
Page 33 and 34: included vitrectomy, capsulotomy, c
Page 35 and 36: medication. At the last follow-up,
Page 37 and 38: REFRACTIVE ERROR / REFRACTIVE SURGE
Page 39 and 40: demonstrated a positive effect on t
Page 41 and 42: ANTERIOR SEGMENT Conjunctival Melan
Page 43 and 44: RESULTS: Directly after birth, corn
Page 45 and 46: and photophobia (80%). The children
Page 47 and 48: Validity and reliability of the Chi
Page 49 and 50: outcomes achieved at cessation of t
Page 51 and 52: METHODS: One hundred and thirteen c
Page 53 and 54: Verisyse intraocular lens implantat
Page 55 and 56: GENETICS Marfan syndrome: from mole
Page 57 and 58: Visual outcome of a cohort of child
Page 59 and 60: primarily affect the photoreceptors
Page 61 and 62: single morphogenetic anomaly in dev
Page 63: Three genome-wide association studi
Page 67 and 68: Laryngeal and tracheal anomalies Po
Page 69 and 70: Treatment of retinoblastoma: Curren
Page 71 and 72: Secondary acute myeloid leukemia af
Page 73 and 74: one. Patients treated with radiatio
Page 75 and 76: Neuro-ophthalmological management o
Page 77 and 78: CONCLUSION: Canalicular involvement
Page 79 and 80: peripheral retinal vasculitis. The
Page 81 and 82: This article describes a 7-month-ol
Page 83 and 84: eference eyes. Photopic flash ERGs
Page 85 and 86: RESULTS: In models that adjusted fo
Page 87 and 88: ORBIT Porous orbital implants, wrap
Page 89 and 90: PLASTICS Conjunctival epithelial ch
Page 91 and 92: The authors conclude that lash ptos
Page 93 and 94: .03). SBP and DBP were significantl
Page 95 and 96: CONGENITAL INFECTION Congenital lym
Page 97 and 98: PEDIATRICS Visual Manifestations of
Page 99 and 100: controversial, ranging from one to
Page 101 and 102: SYSTEMIC Visual function and ocular
Page 103 and 104: Toxocara infection. Toxocara GWC an
Page 105 and 106: congenital cataracts. The retina wa
Page 107 and 108: Childhood blindness: a UK epidemiol
Page 109: safe and efficient procedure to cor
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