Male patient, 6 months old (affected) and in heterozygosis in his mother, who attended our clinic due to divergent strabismus and absence of left eye fixation.
Both pregnancy and childbirth had passed without complications.
The personal history was that the infant had suffered a traffic accident the previous month.
On examination, the anterior pole was normal in both eyes.
A lower retinal detachment was observed in the left eye fundus, associated with a vitreous veil traction to the papilla.
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No alterations were observed in the right eye fundus.
The endoscopy showed a neutral point from +3.00 -2.00 to 10o in the right eye and +3.50 +0.50 to 7o in the left eye.
Given the history of traffic accidents, traumatic detachment in the left eye was attributed.
Periodic controls were performed.
Retinal detachment appeared towards complete resorption, appearing as a temporary retinal detachment line.
The macula was adapted, presenting an alteration at the level of the retinal pigment epithelium.
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At months vitreous flanges were observed in the lower temporal arch in the right eye.
This situation leads us to think of a possible peripheral dyskinesia as the origin of the retinal detachment of the left eye.
Macular OCT and CE OCT were performed, but the results were not significant in both tests due to the poor patient cooperation due to their young age.
Therefore, DNA study was performed from a peripheral blood sample.
A mutation (Q154R) was observed in exon 5 responsible for the syncytosis of the X-linked mummylase gene in exon 5. The mutation was present in heterozygous (affected) patient.
At the age of 6 years, visual acuity was 20/20 in right eye and 20/400 in left eye, despite prolonged treatment with hourly occlusions of the right eye.
Examination revealed inferior temporal vitreous condensation in the right eye and inferior temporal peripheral chysis in the left eye associated with residual fibrosis of the lower temporal arch.
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The absence of foveal schism by OCT in both eyes was highlighted.
