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Peter’s Anomaly with Microphthalmia and Linear Skin Defects

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Title: Peter’s Anomaly with Microphthalmia and Linear Skin Defects
Authors: Austin S. Nakatsuka, MD1,2; Mohamed Soliman, MD2;Mark D. Mifflin, MD1
1) University of Utah Moran Eye Center, Salt Lake City, UT;
2) University of Texas Medical Branch, Galveston, TX

Date: 04/20/2020
Keywords/Main Subjects: Cornea, corneal dystrophy, Peter’s anomaly, congenital corneal dystrophy
Secondary CORE Category:
Diagnosis: Peter’s Anomaly with Microphthalmia and Linear Skin Defects Syndrome
Brief Description:

Report of Case

A 1 week old full term African-American female was evaluated for bilateral corneal clouding. She had an unremarkable birth history but her mother was noted to have positive syphilis serologies. On examination the patient was noted to have bilateral corneal opacification with mild clearing (Images A and B).

A) External photograph of the right eye revealing 70-80% corneal opacification with relative central clearing

B) External photograph of the left eye revealing approximately 90% corneal opacification with relative superotemporal corneal clearing

Notably, the patient also had multiple erythematous linear streaks on her face (Image C).

C) External photograph revealing multiple linear reddish skin lesions overlying the face

Corneal measurements performed at bedside with calipers measured decreased horizontal and vertical corneal diameters (8 and 7 millimeters (mm), respectively; normal diameter is approximately 9.5-10.5 mm).1 A B-scan ultrasound was done and her axial lengths were also decreased, measuring 13 mm in both eyes (normal is approximately 16-18 mm).2 The patient was referred for further evaluation but unfortunately was lost to follow-up at our institution.

Discussion

The dermatologic skin findings in our patient, along with the clinical manifestation of her corneas were not characteristic of congenital syphilis. The corneal findings in congenital syphilis most often manifest as a nonulcerative interstitial keratitis with deep stromal blood vessel invasion, which usually presents later in life (around the age of  2 years or older).3 The dermatologic findings of congenital syphilis are most commonly a desquamative vesicular or maculopapular rash,4 much different from the linear erythematous streaks seen in our patient. Although we do not have confirmation by histopathological examination of the patient’s corneas, the constellation of clinical findings most likely represent a variant of the microphthalmia with linear skin defects (MLS) syndrome.

Corneal opacification with multiple linear skin defects has been described as part of the microphthalmia with linear skin defects (MLS) syndrome, which is also known as the microphthalmia, dermal aplasia, sclerocornea (MIDAS) syndrome.5-6 Affected patients may have cardiac, structural, developmental, and central nervous system abnormalities and genetically carry a characteristic deletion of the X chromosome resulting in X-linked dominant inheritance.7 Histologically, the corneal findings in this syndrome appear to most closely resemble that of Peters anomaly or sclerocornea.5 These patients must be evaluated for spontaneous retinal detachments and severe glaucoma due to anterior segment dysgenesis before any decisions for surgical intervention such as corneal transplantation can be made.5,8

References:

  1. Kiskis AA, Markowitz SN, Morin JD. Corneal diameter and axial length in congenital glaucoma. Can J Opththalmol. 1985;20:93.
  2. Bhardwaj V, Rajeshbhai GP. Axial length, anterior chamber depth-a study in different age groups and refractive errors. Journal of clinical and diagnostic research: JCDR. 2013;7(10), 2211–2212.
  3. Dahl, A. Interstitial keratitis. Medscape. 2019 Jun. https://emedicine.medscape.com/article/1194376-overview.
  4. Kim HY, Kim BJ, Kim JH, Yoo BH. Early congenital syphilis presenting with skin eruption alone: a case report. Korean journal of pediatrics. 2011;54(12), 512–514.
  5. Kapur R, Tu EY, Toyran S, Shah P, Vangveeravong S, Lloyd WC 3rd, Edward DP. Corneal pathology in microphthalmia with linear skin defects syndrome. Cornea. 2008 Jul;27(6):734-8.
  6. Cape CJ, Zaidman GW, Beck AD, et al. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). Arch Ophthalmol. 2004;122:1070-1074.
  7. Morleo M, Franco B. Microphthalmia with linear skin defects syndrome. In GeneReviews ®[Internet]. 2009 Jun.
  8. Thompson AC, Thompson MO, Lim ME, Freedman SF, Enyedi LB. Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. J Glaucoma. 2018 Jan;27(1):e7-e10.

Identifier: Moran_CORE_27766
Copyright statement: Copyright 2020. Please see terms of use page for more information.

Disclosures: The authors have no individual disclosures to report.

Supported in part by an Unrestricted Grant from Research to Prevent Blindness, New York, NY, to the Department of Ophthalmology & Visual Sciences, University of Utah.