FAST FACTS FOR BOARD REVIEW
Series Editor: William W. Huang, MD, MPH
Eye Findings in Dr. O’Neill is from Buffalo Medical Group, New York. The author reports no conflict of interest. Dermatologic Conditions
Jenna O’Neill, MD
Eye Finding Definition/Pathogenesis Dermatologic Condition(s) Miscellaneous
Angioid streaks Rupture of Bruch membrane PXE, EDS (kyphoscoliosis and Associated with sickle cell (innermost layer of choroid); vascular types most commonly anemia, β thalassemia, broad red-brown lines associated), Cowden disease Paget disease of bone, radiating from optic nerve and phosphatemia; often idiopathic Ankyloblepharon Fusion of all or part of Hay-Wells syndrome (also AD mutation in p63 filiforme adnatum eyelid margins known as AEC syndrome, a form of ectodermal dysplasia) Blue sclerae Blue hue is due to Alkaptonuria, EDS, Fanconi EDS type 6 underlying choroidal veins, anemia, Marfan syndrome, (kyphoscoliosis; AR which show through thin nevus of Ota, osteogenesis mutation in PLOD, collagen fibers of sclera imperfecta types I–III, PXE which encodes lysyl hydroxylase): blue sclerae, retinal detachment, globe rupture, keratoconus; also found in alkaptonuria and nevus of Ota due to pigment deposition in sclera Brushfield spot White to gray spots at Down syndrome Normal in children periphery of iris due to (Kunkmann-Wolffian stromal hyperplasia bodies) Cherry red spot Bright red-orange color of Hurler disease, Also seen in central retinal fovea is contrasted against Niemann-Pick disease, artery occlusion (fovea pale color of retina due to Tay-Sachs disease, receives circulation from accumulation of lipid in sialidosis, Sandhoff disease choroid rather than retinal ganglion cells retinal artery); dapsone toxicity and carbon monoxide poisoning Coloboma Defect in one of the Epidermal nevus syndrome, Most commonly affects structures of the eye, such as Goltz syndrome (focal dermal the iris; may be unilateral the iris, retina, choroid, hypoplasia), incontinentia or bilateral or optic disc pigmenti, Gorlin syndrome Comma-shaped X-linked ichthyosis Do not affect visual corneal opacities (occur in up to 50%) acuity but may cause corneal erosions
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Eye Finding Definition/Pathogenesis Dermatologic Condition(s) Miscellaneous
Congenital Flat pigmented spots on Gardner syndrome (familial No impact on vision hypertrophy of outermost layer of retina adenomatous polyposis) unless located over retinal pigment macula epithelium Dendritic keratitis Linear branching pattern Herpes infection, Herpes simplex keratitis of corneal ulcers Richner-Hanhart syndrome is most common cause (tyrosinemia type II) of infectious blindness in Western world; pseudoherpetic keratitis caused by accumulation of tyrosine Ectopia lentis Displacement of lens Upward: Marfan from its normal position syndrome; downward: homocystinuria Juvenile posterior Also known as juvenile NF type II 90% of NF type II patients subcapsular cortical cataract have ocular symptoms lenticular opacity Kayser-Fleischer Dark rings encircling Wilson disease Caused by copper rings outermost portion of iris deposition in portion of cornea (Descemet membrane); early lesions best viewed via slit-lamp examination Lester iris Hyperpigmentation of Nail-patella syndrome AD mutation in papillary margin of iris LMX1B gene Lisch nodules Pigmented hamartomas of NF type I Present in >94% of NF melanocytes, which appear patients >6 years of as yellow-brown papules age; detected by on the surface of the iris slit-lamp examination; also optic gliomas Phakomas Astrocytic hamartomas of Tuberous sclerosis complex May calcify optic nerve, appear as grey-white lesions on retina
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Eye Finding Definition/Pathogenesis Dermatologic Condition(s) Miscellaneous
Pinguecula Yellow-white nodule Gaucher disease Generally asymptomatic; on conjunctiva adjacent differentiated from to limbus pterygium, which grows into cornea and may affect vision; most common cause is UV exposure Retinitis Salt-and-pepper appearance Refsum syndrome, Cockayne Progressive loss of vision pigmentosa of retina with clumps of syndrome, Sjögren-Larsson due to degeneration of black pigment syndrome (atypical retinitis retinal pigment epithelial pigmentosa: intraretinal cells; first symptom is glistening white dots) night blindness followed by loss of peripheral vision
Abbreviations: PXE, pseudoxanthoma elasticum; EDS, Ehlers-Danlos syndrome; AEC, ankyloblepharon-ectodermal defects-cleft lip/palate; AD, autosomal dominant; AR, autosomal recessive; NF, neurofibromatosis.
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Practice Questions
1. Which type of EDS is most characteristically associated with blue sclerae and globe rupture? a. arthrochalasia b. classical c. dermatosparaxis d. hypermobility e. kyphoscoliosis
2. Ankyloblepharon may be associated with mutation of which gene? a. fibrillin 1 b. LMX1B c. NF1 d. p53 e. p63
3. Which is a characteristic ocular tumor in patients with tuberous sclerosis complex? a. congenital hypertrophy of retinal pigment epithelium b. phakoma c. pigmented iris hamartoma d. pinguecula e. pterygium
4. Which syndrome is not associated with blue sclerae? a. EDS type 6 b. lipoid proteinosis c. Marfan syndrome d. osteogenesis imperfecta type II e. pseudoxanthoma elasticum
5. Which term describes white spots at the periphery of the iris? a. Brushfield spots b. coloboma c. Kayser-Fleischer rings d. Lester iris e. Lisch nodules
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Copyright Cutis 2016. This page may be reproduced by dermatologists for noncommercial use.