We report the case of an 11-month-old male patient who attended our clinic for a study of convergent strabismus with absence of fixation by right eye.
Examination showed a neutral point of +5.50 -1.00 to 10o in right eye and +8.00 -1.00 to 10o in left eye.
An endotropy of +10o, dominance of OI.
The anterior pole showed no alterations in both eyes.
No significant alterations were observed in the right eye fundus, except for a lower temporal peripheral vitreous veil.
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The eye fundus in the left eye was normal.
Treatment was initiated with occlusion of 4 h/day in left eye.
In periodic reviews, vitreous condensation was observed at the lower temporal level, without retinal detachment in the right eye.
Lack of response to treatment with occlusions was performed and PEV was normal.
During the evolution, a peripheral schizosis was observed under the right eye vitreous condensation.
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Genetic study was performed using a peripheral blood sample.
A mutation was observed in exon 5 of the RS1 gene located on chromosome Xp22.2-p22.1.
The patient was diagnosed with X-linked osteonecrosis of the jaw and his mother as carrier.
At the age of 5 years, she had a visual acuity of 20/125 in the right eye and 20/40 in the left eye, despite treatment with occlusions.
At the bottom of the eye, the patient presented a temporal sclerosis inferior in the right eye, posterior pole, without macular involvement and a temporal peripheral schissis in the left eye.
No macular changes were observed in OCT in both eyes.
