Case Report
Mild Ocular Findings and Skeletal Anomalies Producing a Marfanoid Appearance, Along with Autoimmune/Inflammatory Findings Due to SNV of Unknown Significance in Genes ABCC6 and OPA1 Inherited from the Mother
Nicolas Chanes1, Jessica Tumolo2, James L Weber2, Srirangan Sampath2, Ricardo Gómez3, Alfonso Vargas3, Abraham Gedalia4, Alejandro León5, María D. Bernal6, Steffan Sernich7, Todd M Sanderson8, Daniel R Bronfin8, Regina M Zambrano9, Chandana B Keshavamurthy10, Katelyn A. Woolridge11, Sandra Urrea12 and Yves Lacassie9*
1Louisiana State University Health School of Medicine in New Orleans, Louisiana
2Prevention Genetics, Marshfield, Wisconsin
3Department of Pediatrics, Division of Endocrinology, LSU Health New Orleans and Children’s Hospital, New Orleans, Louisiana
4Department of Pediatrics, Division of Rheumatology, LSU Health New Orleans and Children’s Hospital, New Orleans, Louisiana
5Department of Ophthalmology, Children’s Hospital, New Orleans, Louisiana
6Department of Ophthalmology, LSU Health New Orleans
7Department of Cardiology, LSU Health New Orleans, and Children’s Hospital, New Orleans, Louisiana
8Department of Pediatrics, Ochsner Health Center for Children, New Orleans, Louisiana
9Department of Pediatrics, Division of Genetics, LSU Health New Orleans
10Rheumatology, Ochsner Health Center, New Orleans, Louisiana
11Dermatology, Ochsner Health Center, New Orleans, Louisiana
12New Orleans, Louisiana
Yves Lacassie MD, Professor Emeritus Department of Pediatrics, Louisiana State University Health, School of Medicine, 200 Henry Clay Ave., New Orleans, LA 70118, USA
Received Date: March 04, 2022; Published Date: March 22, 2022
Abstract
When faced with patients presenting with dolichostenomelia, ocular features, and Marfanoid appearance, most physicians often suspect the possibility of Marfan syndrome or one of its differential diagnoses. We report a 14-year-old Hispanic female with nanophthalmos with high hyperopia, dolichostenomelic appearance, mild musculoskeletal findings, xerosis, and positivity for some inflammatory/autoimmune markers. Although a detailed evaluation at age eight showed a Marfan systemic score of 0 and growth only between the 10th and 25th centile, the diagnosis of Marfan syndrome has been frequently raised until now. Without a specific diagnosis that could explain her syndromic findings, whole genome sequencing (WGS) was requested. This study did not detect a known reported variant but rather heterozygote single nucleotide variants in genes ABCC6 and OPA1 were found. These variants were inherited from her mother who also presents with some medical issues and positive antinuclear antibodies. Although these variants might explain these clinical findings, further confirmation will be necessary. We hope this report may encourage subsequent publications.
Keywords: Marfanoid appearance; Nanophthalmos; High hyperopia; Mild iritis; Minor musculoskeletal; Dermatological; and Rheumatological findings; Inherited ABCC6 and OPA1; Single Nucleotide Variants (SNV)
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Nicolas Chanes, Jessica Tumolo, James L Weber, Srirangan Sampath, Yves Lacassie. Mild Ocular Findings and Skeletal Anomalies Producing a Marfanoid Appearance, Along with Autoimmune/Inflammatory Findings Due to SNV of Unknown Significance in Genes ABCC6 and OPA1 Inherited from the Mother. W J Opthalmol & Vision Res. 4(1): 2022. WJOVR.MS.ID.000578. DOI: 10.33552/WJOVR.2022.04.000578.
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Marfanoid appearance, Nanophthalmos, High hyperopia, Mild iritis, Minor musculoskeletal, Dermatological, and Rheumatological findings, Inherited ABCC6 and OPA1, Single Nucleotide Variants (SNV)
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