Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease

A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red reflex, hypotonia, cerebral hypoplasia, and iris bombe on ultrasound biomicroscopy, a feature not previously reported in this syndrome. She responded favorably t...

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Published inJournal of pediatric ophthalmology and strabismus Vol. 60; no. 4; pp. e35 - e37
Main Authors Gholap, Radhika S, Bharucha-Goebel, Diana X, Shats, Daniel A, Panchal, Bhakti K, Chong, Jessica, Levin, Moran R, Alexander, Janet L
Format Journal Article
LanguageEnglish
Published United States Slack, Inc 01.07.2023
SLACK INCORPORATED
Subjects
Biopsy
Brain diseases
Brain research
Cataracts
Child, Preschool
Congenital diseases
Cornea
Female
Genetic aspects
Genetic disorders
Glaucoma
Glaucoma - diagnosis
Glaucoma - etiology
Glaucoma - surgery
Humans
Iris
Iris - abnormalities
Iris - surgery
Iris Diseases - diagnosis
Iris Diseases - surgery
Kinases
Light
Magnetic resonance imaging
Microscopy, Acoustic
Muscular dystrophy
Ostomy
Ultrasonic imaging
Visual acuity
Walker-Warburg Syndrome - complications
Maryland
United States > US
Baltimore Maryland
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Summary:A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red reflex, hypotonia, cerebral hypoplasia, and iris bombe on ultrasound biomicroscopy, a feature not previously reported in this syndrome. She responded favorably to surgical management. Iris bombe can be a cause of glaucoma in muscle-eye-brain disease. This highlights the importance of incorporating ultrasound biomicroscopy into the diagnostic algorithm of muscle-eye-brain disease and other types of congenital syndromic glaucoma. .
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ISSN:0191-3913
1938-2405
DOI:10.3928/01913913-20230518-01