We report an unusual case of acquired oculomotor synkinesis as a sequela of cavernous sinus thrombosis in a child. A 4-year-old male child presented to our emergency services with sudden onset periorbital swelling with complete ptosis of the left upper eyelid. This was preceded by a febrile episode and a furuncle at the tip of the nose. Computerised axial tomography of the orbit revealed orbital cellulitis in the left eye. The child was started on systemic antibiotics followed by a short course of systemic steroids. MRI of the brain with contrast revealed left cavernous sinus and superior ophthalmic vein thrombosis. Following administration of systemic anticoagulants and antibiotics, the ocular motility and ptosis improved remarkably. However, 6 months post-treatment, the child developed signs of aberrant regeneration of the third cranial nerve (oculomotor synkinesis).
Contributors RK and SL wrote the paper and edited the images. RK managed the patient and acquired the images. SL conceptualised the case report images. RK is the overall guarantor of the paper.
Purpose:
To assess the clinical profiles, presenting ocular features, and variations in the phenotypic features in siblings with oculocutaneous albinism (OCA).
Methods:
Electronic medical records of consecutive siblings diagnosed with albinism from January 2016 to December 2020 were reviewed to identify the affected siblings. The variations in their phenotypic characteristics were studied.
Results:
Significant variations were observed in the clinical features between the siblings (
n
= 42). A difference of >2 lines in visual acuity was observed in 50% (
n
= 21) of the sibling pairs. Compound hyperopic astigmatism was the commonest refractive error. The refractive status was different in 80.95% (
n
= 34) pairs. Although individually strabismus and abnormal head posture were observed in one-third and one-fourth of individual children, respectively, both siblings with similar strabismus were seen in only 16.67% (
n
= 7) and with a similar abnormal head posture in 13.33% (
n
= 5). Nystagmus was the most consistent finding across these siblings with a similar nature of horizontal jerk or pendular in 65% of sibling pairs.
Conclusion:
This study observed significant variations in phenotypic presentations among siblings with OCA. Such differences in clinical manifestations and severity would be helpful in appropriate counseling of these families as the need for rehabilitation services is likely to vary across siblings.
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