LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

Sezen Guntekin Ergun, Guvem Gumus Akay, Mehmet Ali Ergun, E Ferda Perçin

European journal of medical genetics 2017 Mar

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Microphthalmia is defined as the measurement of the total axial length of the eyeball to be below average of the two standard deviation according to the age. While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this disease. After exclusion of the genes that had been known to be the cause of microphthalmia, we performed homozygosity mapping and exome sequencing to clarify the genetic etiology of the bilateral microphthalmia in this family. When the results of the exome and microarray data were considered together as a splice-site mutation in LRP5 gene [c.2827 + 1G > A], which is known to be important for eye development and Wnt receptor signaling pathway, was found to be the cause of microphthalmia in our family. It was understood that after finding this mutation, when bone mineral density was measured with DXA in the family whose ages range between 19 and 28 and who have no bone problem before, osteoporosis was diagnosed. It was also understood that microphthalmia found in this family is a clinical finding of OPPG syndrome. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Citation

Sezen Guntekin Ergun, Guvem Gumus Akay, Mehmet Ali Ergun, E Ferda Perçin. LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. European journal of medical genetics. 2017 Mar;60(3):200-204