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Grand Rounds Conference Juan P. Fernandez de Castro, MD University of Louisville Department of Ophthalmology and Visual Sciences February 20, 2015.

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Presentation on theme: "Grand Rounds Conference Juan P. Fernandez de Castro, MD University of Louisville Department of Ophthalmology and Visual Sciences February 20, 2015."— Presentation transcript:

1 Grand Rounds Conference Juan P. Fernandez de Castro, MD University of Louisville Department of Ophthalmology and Visual Sciences February 20, 2015

2 Subjective CC: Consulted by pediatrics to evaluate corneal opacities HPI: 2 day old white male with multiple fetal anomalies including macrocephaly, polyhydramnios and renal anomalies; underwent c-section for these issues. Physical exam on birth was abnormal for bilateral corneal opacities; also cleft lip and palate, anterior placement of anus, 2 vessel umbilical cord (single umbilical artery), shortened forearms and absence of palpable testes. Patient had normal pre-natal chromosomal analysis.

3 POH: Cloudy corneas OU since birth PMH: No known in-utero insults. Patient following with MFM (maternal fetal medicine) prior to delivery Family Hx: No family history of ocular malformations Allergies: NKDA Past History

4 IOP (Squinting) :26 mmHg 25 mmHg EOM:FullFull Objective OD OS OD OS VA (n sc): Winces to lightWinces to light Pupils: No view OU

5 Objective PLE: External/LidsWNL Conj/ScleraWhite, clear Cornea OD: Diffuse stromal opacification corneal edema, inferior neovascularization of cornea. No epithelial defect on staining OS: Very dense diffuse stromal opacification with diffuse corneal edema. Very pronounced corneal neovascularization of central cornea. No epithelial defect on staining

6 External Appearance

7

8 Mnemonic for Corneal Opacities S clerocornea S clerocornea T ears in Descemets T ears in Descemets U lcers U lcers M etabolic M etabolic P eters P eters E ndothelial dystrophy E ndothelial dystrophy D ermoid D ermoid

9 Assessment 2 day old white male with multiple congenital anomalies including macrocephaly, ventriculomegaly, undescended testes, single umbilical artery on birth, shortened arms, cleft lip and palate. 2 day old white male with multiple congenital anomalies including macrocephaly, ventriculomegaly, undescended testes, single umbilical artery on birth, shortened arms, cleft lip and palate. Ocular exam reveals extensive corneal opacification in both eyes with vascularization of left eye consistent with Peter's anomaly. Ocular exam reveals extensive corneal opacification in both eyes with vascularization of left eye consistent with Peter's anomaly. In view of the systemic findings the patient's findings are consistent with Peters Plus Syndrome. In view of the systemic findings the patient's findings are consistent with Peters Plus Syndrome.

10 Genetic Testing – B3GALTL

11 Diagnosis Peters Plus Syndrome B3GALTL mutation (Beta-1,3-glucosyltransferase like)

12 Follow up 1 month Pediatric Ophthalmology Pediatric Ophthalmology Nystagmus Nystagmus IOP WNL IOP WNL Bilateral corneal opacities stable Bilateral corneal opacities stable Has had surgical procedures (G-tube x 2 )and respiratory complications (aspiration pneumonia) in the past weeks Has had surgical procedures (G-tube x 2 )and respiratory complications (aspiration pneumonia) in the past weeks

13 Peters’ Anomaly Albert Peters (Germany, ) Albert Peters (Germany, ) Central corneal leukoma Central corneal leukoma Variable synechiae between the iris and cornea Variable synechiae between the iris and cornea Defect in Descemets membrane and the corneal endothelium Defect in Descemets membrane and the corneal endothelium A. Peters, “Uber angeborene defektbildung der descemetschen membran,” Klinische Monatsblätter für Augenheilkunde, vol. 44, pp. 27–40, 1906.

14 All have central corneal opacities Peters anomaly type I: irido-corneal adhesion Peters anomaly type II: cataracts or corneo- lenticular adhesions Peters-plus syndrome: Peters anomaly and short stature, developmental delay, dysmorphic facial features including cleft lip-palate and abnormal ears Townsend W, Font RL, Zimmerman L. Congenital corneal leukoma. Histopathological findings in 19 eyes with central corneal defects in Descemet’s membrane. Am J Ophthalmol. 1974;77:192. Classification

15 Multidisciplinary Workup Complete ophthalmologic assessment, including ocular ultrasonography for characterization of the eye anomaly and an assessment for associated ocular defects Complete ophthalmologic assessment, including ocular ultrasonography for characterization of the eye anomaly and an assessment for associated ocular defects Growth hormone stimulation testing to address the possibility of a treatable cause of growth delay Growth hormone stimulation testing to address the possibility of a treatable cause of growth delay For neonates or infants, referral to an infant development program for appropriate developmental assessment For neonates or infants, referral to an infant development program for appropriate developmental assessment Echocardiography for congenital heart malformations Echocardiography for congenital heart malformations Abdominal ultrasound examination for renal anomalies Abdominal ultrasound examination for renal anomalies Cranial imaging with head ultrasound examination or CT scan/MRI for hydrocephalus and/or structural brain abnormalities Cranial imaging with head ultrasound examination or CT scan/MRI for hydrocephalus and/or structural brain abnormalities Thyroid function testing in all infants who have not undergone newborn screening for congenital hypothyroidism Thyroid function testing in all infants who have not undergone newborn screening for congenital hypothyroidism Hearing assessment in a child with cleft palate or speech delay Hearing assessment in a child with cleft palate or speech delay Medical genetics consultation Medical genetics consultation

16 Modified from Discovery.lifemapsc.com

17 Causes Incomplete central migration of neural crest cells Incomplete central migration of neural crest cells Teratogenic exposures (in-utero infection, maternal alcoholism) Teratogenic exposures (in-utero infection, maternal alcoholism) Glaucoma is common due to incomplete development of the angle

18 Chang E, Vislisel J, Larson, SA. Peters Anomaly. EyeRounds.org. June 30, 2014 Available from

19 Pathological Gross Appearance

20 Posterior ulcer of von Hippel Iridocorneal processes Angle anomalies Central defect in Descemets membrane Posterior stromal layers with adherent cataractous lens Albert & Jakobiec's Principles & Practice of Ophthalmology

21 Accurate terminology Accurate terminology Genotype/Phenotype correlation Genotype/Phenotype correlation Assessment of prognosis Assessment of prognosis With and without intervention With and without intervention

22 PRIMARY CORNEAL DISEASE PRIMARY CORNEAL DISEASE Corneal dystrophies Corneal dystrophies Congenital hereditary endothelial dystrophy Congenital hereditary endothelial dystrophy Posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy Congenital hereditary stromal dystrophy Congenital hereditary stromal dystrophy X-linked endothelial corneal dystrophy X-linked endothelial corneal dystrophy Corneal dermoid Corneal dermoid Peripheral sclerocornea Peripheral sclerocornea CYP1B1 cytopathy CYP1B1 cytopathy SECONDARY CORNEAL DISEASE SECONDARY CORNEAL DISEASE Congenital Congenital Kerato-irido-lenticular dysgenesis Kerato-irido-lenticular dysgenesis Irido-trabecular dysgenesis Irido-trabecular dysgenesis ACQUIRED ACQUIRED Infection Infection Viral Viral Bacterial Bacterial Trauma Trauma Forceps injury Forceps injury Amniocentesis injury Amniocentesis injury Metabolic Metabolic Mucolipidosis IV Mucolipidosis IV Peters

23 Iridocorneal Adhesions Peters I Phenotype Phenotype Central, eccentric or (rarely) total corneal opacity Always avascular Genotype: Mutations in PITX2, FOXC1, CYP1B1, PAX6 30 eyes after PKP. Mean follow up 78.9 months 90% had clear grafts >3 years of age: 54% VA better than 20/100 Zaidman GW, Flanagan JK, Furey CC. Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol 2007

24 Peters I Central opacity Eccentric opacity, clinical photo and ultrasound biomicroscopy

25 Lens Fails to Separate from Cornea Peters II Developmental failure of separation of the invaginating lens vesicle from the overlying surface ectoderm Developmental failure of separation of the invaginating lens vesicle from the overlying surface ectoderm Vascularized central or total corneal opacity Vascularized central or total corneal opacity Early rejection of corneal transplants Early rejection of corneal transplants Lensectomy leads to vitreous exposure to the new donor graft Lensectomy leads to vitreous exposure to the new donor graft Treatment remains a challenge Treatment remains a challenge Bhandari R, Ferri S, Whittaker B, et al. Peters anomaly: review of the literature. Cornea 2011; 30:939–944.

26 Peters II Biomicroscopy is equivocal Intraoperative photos, no lens. Arrow pointing at vitreous Histology, lens embedded in cornea ? Keratoprosthesis

27 Lens separates but fails to form thereafter Total corneal opacification with vascularization Total corneal opacification with vascularization Diagnosed using high-frequency ultrasound or anterior segment OCT Diagnosed using high-frequency ultrasound or anterior segment OCT Unclear if vitreous is abnormal too Unclear if vitreous is abnormal too

28 Lens separates and forms, but there is late corneal apposition Central Avascular OpacityAnterior Capsule Reflectivity Hypoxia? Hypoxia? Persistent fetal vasculature Persistent fetal vasculature Aniridia Aniridia

29 Lens separates and forms, but there is late corneal apposition Removal of lens and peeling of anterior capsule allows recovery of endothelium. PKP is second line treatment Removal of lens and peeling of anterior capsule allows recovery of endothelium. PKP is second line treatment Persistent Fetal Vasculature (Pseudo Peters) Aniridia with keratolenticular touch Corneal opacities (white), Lens opacities (black)

30 Lens Fails to Form Primary Aphakia Silver/Gray Cornea Silver/Gray Cornea Frequent microphthalmia Frequent microphthalmia FOXE3 FOXE3 Poor PKP outcomes Poor PKP outcomes Pthisis within weeks Pthisis within weeks Glaucoma Glaucoma Natural history is spontaneous rupture Natural history is spontaneous rupture

31 Lens Fails to Form Primary Aphakia

32 Conclusions Appropriate anterior segment imaging Appropriate anterior segment imaging Understand the mechanism of the disease Understand the mechanism of the disease Prognosis with and without intervention Prognosis with and without intervention Genetic counseling Genetic counseling Complete workup if syndrome is suspected Complete workup if syndrome is suspected Pediatric ophthalmology, cornea, glaucoma Pediatric ophthalmology, cornea, glaucoma Not all Peters are the same!

33 References Bhandari R, Ferri S, Whittaker B, et al. Peters anomaly: review of the literature. Cornea 2011; 30:939–944. Bhandari R, Ferri S, Whittaker B, et al. Peters anomaly: review of the literature. Cornea 2011; 30:939–944. Nischal K. A new approach to the classification of neonatal corneal opacities. Current opinion in ophthalmology [ ]:2012 vol:23 iss:5 pg: Nischal K. A new approach to the classification of neonatal corneal opacities. Current opinion in ophthalmology [ ]:2012 vol:23 iss:5 pg: Lesnik Oberstein SAJ, van Belzen M, Hennekam R. Peters Plus Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; Lesnik Oberstein SAJ, van Belzen M, Hennekam R. Peters Plus Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; Townsend W, Font RL, Zimmerman L. Congenital corneal leukoma. Histopathological findings in 19 eyes with central corneal defects in Descemet’s membrane. Am J Ophthalmol. 1974;77:192 Townsend W, Font RL, Zimmerman L. Congenital corneal leukoma. Histopathological findings in 19 eyes with central corneal defects in Descemet’s membrane. Am J Ophthalmol. 1974;77:192


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